Category Archives: Promethease

Genetic Genealogy at 20 Years: Where Have We Been, Where Are We Going and What’s Important?

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Not only have we put 2020 in the rear-view mirror, thankfully, we’re at the 20-year, two-decade milestone. The point at which genetics was first added to the toolbox of genealogists.

It seems both like yesterday and forever ago. And yes, I’ve been here the whole time,  as a spectator, researcher, and active participant.

Let’s put this in perspective. On New Year’s Eve, right at midnight, in 2005, I was able to score kit number 50,000 at Family Tree DNA. I remember this because it seemed like such a bizarre thing to be doing at midnight on New Year’s Eve. But hey, we genealogists are what we are.

I knew that momentous kit number which seemed just HUGE at the time was on the threshold of being sold, because I had inadvertently purchased kit 49,997 a few minutes earlier.

Somehow kit 50,000 seemed like such a huge milestone, a landmark – so I quickly bought kits, 49,998, 49,999, and then…would I get it…YES…kit 50,000. Score!

That meant that in the 5 years FamilyTreeDNA had been in business, they had sold on an average of 10,000 kits per year, or 27 kits a day. Today, that’s a rounding error. Then it was momentous!

In reality, the sales were ramping up quickly, because very few kits were sold in 2000, and roughly 20,000 kits had been sold in 2005 alone. I know this because I purchased kit 28,429 during the holiday sale a year earlier.

Of course, I had no idea who I’d test with that momentous New Year’s Eve Y DNA kit, but I assuredly would find someone. A few months later, I embarked on a road trip to visit an elderly family member with that kit in tow. Thank goodness I did, and they agreed and swabbed on the spot, because they are gone today and with them, the story of the Y line and autosomal DNA of their branch.

In the past two decades, almost an entire generation has slipped away, and with them, an entire genealogical library held in their DNA.

Today, more than 40 million people have tested with the four major DNA testing companies, although we don’t know exactly how many.

Lots of people have had more time to focus on genealogy in 2020, so let’s take a look at what’s important? What’s going on and what matters beyond this month or year?

How has this industry changed in the last two decades, and where it is going?

Reflection

This seems like a good point to reflect a bit.

Professor Dan Bradley reflecting on early genetic research techniques in his lab at the Smurfit Institute of Genetics at Trinity College in Dublin. Photo by Roberta Estes

In the beginning – twenty years ago, there were two companies who stuck their toes in the consumer DNA testing water – Oxford Ancestors and Family Tree DNA. About the same time, Sorenson Genomics and GeneTree were also entering that space, although Sorenson was a nonprofit. Today, of those, only FamilyTreeDNA remains, having adapted with the changing times – adding more products, testing, and sophistication.

Bryan Sykes who founded Oxford Ancestors announced in 2018 that he was retiring to live abroad and subsequently passed away in 2020. The website still exists, but the company has announced that they have ceased sales and the database will remain open until Sept 30, 2021.

James Sorenson died in 2008 and the assets of Sorenson Molecular Genealogy Foundation, including the Sorenson database, were sold to Ancestry in 2012. Eventually, Ancestry removed the public database in 2015.

Ancestry dabbled in Y and mtDNA for a while, too, destroying that database in 2014.

Other companies, too many to remember or mention, have come and gone as well. Some of the various company names have been recycled or purchased, but aren’t the same companies today.

In the DNA space, it was keep up, change, die or be sold. Of course, there was the small matter of being able to sell enough DNA kits to make enough money to stay in business at all. DNA processing equipment and a lab are expensive. Not just the equipment, but also the expertise.

The Next Wave

As time moved forward, new players entered the landscape, comprising the “Big 4” testing companies that constitute the ponds where genealogists fish today.

23andMe was the first to introduce autosomal DNA testing and matching. Their goal and focus was always medical genetics, but they recognized the potential in genealogists before anyone else, and we flocked to purchase tests.

Ancestry settled on autosomal only and relies on the size of their database, a large body of genealogy subscribers, and a widespread “feel-good” marketing campaign to sell DNA kits as the gateway to “discover who you are.”

FamilyTreeDNA did and still does offer all 3 kinds of tests. Over the years, they have enhanced both the Y DNA and mitochondrial product offerings significantly and are still known as “the science company.” They are the only company to offer the full range of Y DNA tests, including their flagship Big Y-700, full sequence mitochondrial testing along with matching for both products. Their autosomal product is called Family Finder.

MyHeritage entered the DNA testing space a few years after the others as the dark horse that few expected to be successful – but they fooled everyone. They have acquired companies and partnered along the way which allowed them to add customers (Promethease) and tools (such as AutoCluster by Genetic Affairs), boosting their number of users. Of course, MyHeritage also offers users a records research subscription service that you can try for free.

In summary:

One of the wonderful things that happened was that some vendors began to accept compatible raw DNA autosomal data transfer files from other vendors. Today, FamilyTreeDNA, MyHeritage, and GEDmatch DO accept transfer files, while Ancestry and 23andMe do not.

The transfers and matching are free, but there are either minimal unlock or subscription plans for advanced features.

There are other testing companies, some with niche markets and others not so reputable. For this article, I’m focusing on the primary DNA testing companies that are useful for genealogy and mainstream companion third-party tools that complement and enhance those services.

The Single Biggest Change

As I look back, the single biggest change is that genetic genealogy evolved from the pariah of genealogy where DNA discussion was banned from the (now defunct) Rootsweb lists and summarily deleted for the first few years after introduction. I know, that’s hard to believe today.

Why, you ask?

Reasons varied from “just because” to “DNA is cheating” and then morphed into “because DNA might do terrible things like, maybe, suggest that a person really wasn’t related to an ancestor in a lineage society.”

Bottom line – fear and misunderstanding. Change is exceedingly difficult for humans, and DNA definitely moved the genealogy cheese.

From that awkward beginning, genetic genealogy organically became a “thing,” a specific application of genealogy. There was paper-trail traditional genealogy and then the genetic aspect. Today, for almost everyone, genealogy is “just another tool” in the genealogist’s toolbox, although it does require focused learning, just like any other tool.

DNA isn’t separate anymore, but is now an integral part of the genealogical whole. Having said that, DNA can’t solve all problems or answer all questions, but neither can traditional paper-trail genealogy. Together, each makes the other stronger and solves mysteries that neither can resolve alone.

Synergy.

I fully believe that we have still only scratched the surface of what’s possible.

Inheritance

As we talk about the various types of DNA testing and tools, here’s a quick graphic to remind you of how the different types of DNA are inherited.

  • Y DNA is inherited paternally for males only and informs us of the direct patrilineal (surname) line.
  • Mitochondrial DNA is inherited by everyone from their mothers and informs us of the mother’s matrilineal (mother’s mother’s mother’s) line.
  • Autosomal DNA can be inherited from potentially any ancestor in random but somewhat predictable amounts through both parents. The further back in time, the less identifiable DNA you’ll inherit from any specific ancestor. I wrote about that, here.

What’s Hot and What’s Not

Where should we be focused today and where is this industry going? What tools and articles popped up in 2020 to help further our genealogy addiction? I already published the most popular articles of 2020, here.

This industry started two decades ago with testing a few Y DNA and mitochondrial DNA markers, and we were utterly thrilled at the time. Both tests have advanced significantly and the prices have dropped like a stone. My first mitochondrial DNA test that tested only 400 locations cost more than $800 – back then.

Y DNA and mitochondrial DNA are still critically important to genetic genealogy. Both play unique roles and provide information that cannot be obtained through autosomal DNA testing. Today, relative to Y DNA and mitochondrial DNA, the biggest challenge, ironically, is educating newer genealogists about their potential who have never heard about anything other than autosomal, often ethnicity, testing.

We have to educate in order to overcome the cacophony of “don’t bother because you don’t get as many matches.”

That’s like saying “don’t use the right size wrench because the last one didn’t fit and it’s a bother to reach into the toolbox.” Not to mention that if everyone tested, there would be a lot more matches, but I digress.

If you don’t use the right tool, and all of the tools at your disposal, you’re not going to get the best result possible.

The genealogical proof standard, the gold standard for genealogy research, calls for “a reasonably exhaustive search,” and if you haven’t at least considered if or how Y
DNA and mitochondrial DNA along with autosomal testing can or might help, then your search is not yet exhaustive.

I attempt to obtain the Y and mitochondrial DNA of every ancestral line. In the article, Search Techniques for Y and Mitochondrial DNA Test Candidates, I described several methodologies to find appropriate testing candidates.

Y DNA – 20 Years and Still Critically Important

Y DNA tracks the Y chromosome for males via the patrilineal (surname) line, providing matching and historical migration information.

We started 20 years ago testing 10 STR markers. Today, we begin at 37 markers, can upgrade to 67 or 111, but the preferred test is the Big Y which provides results for 700+ STR markers plus results from the entire gold standard region of the Y chromosome in order to provide the most refined results. This allows genealogists to use STR markers and SNP results together for various aspects of genealogy.

I created a Y DNA resource page, here, in order to provide a repository for Y DNA information and updates in one place. I would encourage anyone who can to order or upgrade to the Big Y-700 test which provides critical lineage information in addition to and beyond traditional STR testing. Additionally, the Big Y-700 test helps build the Y DNA haplotree which is growing by leaps and bounds.

More new SNPs are found and named EVERY SINGLE DAY today at FamilyTreeDNA than were named in the first several years combined. The 2006 SNP tree listed a grand total of 459 SNPs that defined the Y DNA tree at that time, according to the ISOGG Y DNA SNP tree. Goran Rundfeldt, head of R&D at FamilyTreeDNA posted this today:

2020 was an awful year in so many ways, but it was an unprecedented year for human paternal phylogenetic tree reconstruction. The FTDNA Haplotree or Great Tree of Mankind now includes:

– 37,534 branches with 12,696 added since 2019 – 51% growth!
defined by
– 349,097 SNPs with 131,820 added since 2019 – 61% growth!

In just one year, 207,536 SNPs were discovered and assigned FT SNP names. These SNPs will help define new branches and refine existing ones in the future.

The tree is constructed based on high coverage chromosome Y sequences from:
– More than 52,500 Big Y results
– Almost 4,000 NGS results from present-day anonymous men that participated in academic studies

Plus an additional 3,000 ancient DNA results from archaeological remains, of mixed quality and Y chromosome coverage at FamilyTreeDNA.

Wow, just wow.

These three new articles in 2020 will get you started on your Y DNA journey!

Mitochondrial DNA – Matrilineal Line of Humankind is Being Rewritten

The original Oxford Ancestor’s mitochondrial DNA test tested 400 locations. The original Family Tree DNA test tested around 1000 locations. Today, the full sequence mitochondrial DNA test is standard, testing the entire 16,569 locations of the mitochondria.

Mitochondrial DNA tracks your mother’s direct maternal, or matrilineal line. I’ve created a mitochondrial DNA resource page, here that includes easy step-by-step instructions for after you receive your results.

New articles in 2020 included the introduction of The Million Mito Project. 2021 should see the first results – including a paper currently in the works.

The Million Mito Project is rewriting the haplotree of womankind. The current haplotree has expanded substantially since the first handful of haplogroups thanks to thousands upon thousands of testers, but there is so much more information that can be extracted today.

Y and Mitochondrial Resources

If you don’t know of someone in your family to test for Y DNA or mitochondrial DNA for a specific ancestral line, you can always turn to the Y DNA projects at Family Tree DNA by searching here.

The search provides you with a list of projects available for a specific surname along with how many customers with that surname have tested. Looking at the individual Y DNA projects will show the earliest known ancestor of the surname line.

Another resource, WikiTree lists people who have tested for the Y DNA, mitochondrial DNA and autosomal DNA lines of specific ancestors.

Click on images to enlarge

On the left side, my maternal great-grandmother’s profile card, and on the right, my paternal great-great-grandfather. You can see that someone has tested for the mitochondrial DNA of Nora (OK, so it’s me) and the Y DNA of John Estes (definitely not me.)

MitoYDNA, a nonprofit volunteer organization created a comparison tool to replace Ysearch and Mitosearch when they bit the dust thanks to GDPR.

MitoYDNA accepts uploads from different sources and allows uploaders to not only match to each other, but to view the STR values for Y DNA and the mutation locations for the HVR1 and HVR2 regions of mitochondrial DNA. Mags Gaulden, one of the founders, explains in her article, What sets mitoYDNA apart from other DNA Databases?.

If you’ve tested at nonstandard companies, not realizing that they didn’t provide matching, or if you’ve tested at a company like Sorenson, Ancestry, and now Oxford Ancestors that is going out of business, uploading your results to mitoYDNA is a way to preserve your investment. PS – I still recommend testing at FamilyTreeDNA in order to receive detailed results and compare in their large database.

CentiMorgans – The Word of Two Decades

The world of autosomal DNA turns on the centimorgan (cM) measure. What is a centimorgan, exactly? I wrote about that unit of measure in the article Concepts – CentiMorgans, SNPs and Pickin’ Crab.

Fortunately, new tools and techniques make using cMs much easier. The Shared cM Project was updated this year, and the results incorporated into a wonderfully easy tool used to determine potential relationships at DNAPainter based on the number of shared centiMorgans.

Match quality and potential relationships are determined by the number of shared cMs, and the chromosome browser is the best tool to use for those comparisons.

Chromosome Browser – Genetics Tool to View Chromosome Matches

Chromosome browsers allow testers to view their matching cMs of DNA with other testers positioned on their own chromosomes.

My two cousins’ DNA where they match me on chromosomes 1-4, is shown above in blue and red at Family Tree DNA. It’s important to know where you match cousins, because if you match multiple cousins on the same segment, from the same side of your family (maternal or paternal), that’s suggestive of a common ancestor, with a few caveats.

Some people feel that a chromosome browser is an advanced tool, but I think it’s simply standard fare – kind of like driving a car. You need to learn how to drive initially, but after that, you don’t even think about it – you just get in and go. Here’s help learning how to drive that chromosome browser.

Triangulation – Science Plus Group DNA Matching Confirms Genealogy

The next logical step after learning to use a chromosome browser is triangulation. If fact, you’re seeing triangulation above, but don’t even realize it.

The purpose of genetic genealogy is to gather evidence to “prove” ancestral connections to either people or specific ancestors. In autosomal DNA, triangulation occurs when:

  • You match at least two other people (not close relatives)
  • On the same reasonably sized segment of DNA (generally 7 cM or greater)
  • And you can assign that segment to a common ancestor

The same two cousins are shown above, with triangulated segments bracketed at MyHeritage. I’ve identified the common ancestor with those cousins that those matching DNA segments descend from.

MyHeritage’s triangulation tool confirms by bracketing that these cousins also match each other on the same segment, which is the definition of triangulation.

I’ve written a lot about triangulation recently.

If you’d prefer a video, I recorded a “Top Tips” Facebook LIVE with MyHeritage.

Why is Ancestry missing from this list of triangulation articles? Ancestry does not offer a chromosome browser or segment information. Therefore, you can’t triangulate at Ancestry. You can, however, transfer your Ancestry DNA raw data file to either FamilyTreeDNA, MyHeritage, or GEDmatch, all three of which offer triangulation.

Step by step download/upload transfer instructions are found in this article:

Clustering Matches and Correlating Trees

Based on what we’ve seen over the past few years, we can no longer depend on the major vendors to provide all of the tools that genealogists want and need.

Of course, I would encourage you to stay with mainstream products being used by a significant number of community power users. As with anything, there is always someone out there that’s less than honorable.

2020 saw a lot of innovation and new tools introduced. Maybe that’s one good thing resulting from people being cooped up at home.

Third-party tools are making a huge difference in the world of genetic genealogy. My favorites are Genetic Affairs, their AutoCluster tool shown above, DNAPainter and DNAGedcom.

These articles should get you started with clustering.

If you like video resources, here’s a MyHeritage Facebook LIVE that I recorded about how to use AutoClusters:

I created a compiled resource article for your convenience, here:

I have not tried a newer tool, YourDNAFamily, that focuses only on 23andMe results although the creator has been a member of the genetic genealogy community for a long time.

Painting DNA Makes Chromosome Browsers and Triangulation Easy

DNAPainter takes the next step, providing a repository for all of your painted segments. In other words, DNAPainter is both a solution and a methodology for mass triangulation across all of your chromosomes.

Here’s a small group of people who match me on the same maternal segment of chromosome 1, including those two cousins in the chromosome browser and triangulation sections, above. We know that this segment descends from Philip Jacob Miller and his wife because we’ve been able to identify that couple as the most distant ancestor intersection in all of our trees.

It’s very helpful that DNAPainter has added the functionality of painting all of the maternal and paternal bucketed matches from Family Tree DNA.

All you need to do is to link your known matches to your tree in the proper place at FamilyTreeDNA, then they do the rest by using those DNA matches to indicate which of the rest of your matches are maternal and paternal. Instructions, here. You can then export the file and use it at DNAPainter to paint all of those matches on the correct maternal or paternal chromosomes.

Here’s an article providing all of the DNAPainter Instructions and Resources.

DNA Matches Plus Trees Enhance Genealogy

Of course, utilizing DNA matching plus finding common ancestors in trees is one of the primary purposes of genetic genealogy – right?

Vendors have linked the steps of matching DNA with matching ancestors in trees.

Genetic Affairs take this a step further. If you don’t have an ancestor in your tree, but your matches have common ancestors with each other, Genetic Affairs assembles those trees to provide you with those hints. Of course, that common ancestor might not be relevant to your genealogy, but it just might be too!

click to enlarge

This tree does not include me, but two of my matches descend from a common ancestor and that common ancestor between them might be a clue as to why I match both of them.

Ethnicity Continues to be Popular – But Is No Shortcut to Genealogy

Ethnicity is always popular. People want to “do their DNA” and find out where they come from. I understand. I really do. Who doesn’t just want an answer?

Of course, it’s not that simple, but that doesn’t mean it’s not disappointing to people who test for that purpose with high expectations. Hopefully, ethnicity will pique their curiosity and encourage engagement.

All four major vendors rolled out updated ethnicity results or related tools in 2020.

The future for ethnicity, I believe, will be held in integrated tools that allow us to use ethnicity results for genealogy, including being able to paint our ethnicity on our chromosomes as well as perform segment matching by ethnicity.

For example, if I carry an African segment on chromosome 1 from my father, and I match one person from my mother’s side and one from my father’s side on that same segment – one or the other of those people should also have that segment identified as African. That information would inform me as to which match is paternal and which is maternal

Not only that, this feature would help immensely tracking ancestors back in time and identifying their origins.

Will we ever get there? I don’t know. I’m not sure ethnicity is or can be accurate enough. We’ll see.

Transition to Digital and Online

Sometimes the future drags us kicking and screaming from the present.

With the imposed isolation of 2020, conferences quickly moved to an online presence. The genealogy community has all pulled together to make this work. The joke is that 2020’s most used phrase is “can you hear me?” I can vouch for that.

Of course while the year 2020 is over, the problem isn’t and is extending at least through the first half of 2021 and possibly longer. Conferences are planned months, up to a year, in advance and they can’t turn on a dime, so don’t even begin to expect in-person conferences until either late in 2021 or more likely, 2022 if all goes well this year.

I expect the future will eventually return to in-person conferences, but not entirely.

Finding ways to be more inclusive allows people who don’t want to or can’t travel or join in-person to participate.

I’ve recorded several sessions this year, mostly for 2021. Trust me, these could be a comedy, mostly of errors😊

I participated in four MyHeritage Facebook LIVE sessions in 2020 along with some other amazing speakers. This is what “live” events look like today!

Screenshot courtesy MyHeritage

A few days ago, I asked MyHeritage for a list of their LIVE sessions in 2020 and was shocked to learn that there were more than 90 in English, all free, and you can watch them anytime. Here’s the MyHeritage list.

By the way, every single one of the speakers is a volunteer, so say a big thank you to the speakers who make this possible, and to MyHeritage for the resources to make this free for everyone. If you’ve ever tried to coordinate anything like this, it’s anything but easy.

Additonally, I’ve created two Webinars this year for Legacy Family Tree Webinars.

Geoff Rasmussen put together the list of their top webinars for 2020, and I was pleased to see that I made the top 10! I’m sure there are MANY MORE you’d be interested in watching. Personally, I’m going to watch #6 yet today! Also, #9 and #22. You can always watch new webinars for free for a few days, and you can subscribe to watch all webinars, here.

The 2021 list of webinar speakers has been announced here, and while I’m not allowed to talk about something really fun that’s upcoming, let’s just say you definitely have something to look forward to in the springtime!

Also, don’t forget to register for RootsTech Connect which is entirely online and completely free, February 25-27, here.

Thank you to Penny Walters for creating this lovely graphic.

There are literally hundreds of speakers providing sessions in many languages for viewers around the world. I’ve heard the stats, but we can’t share them yet. Let me just say that you will be SHOCKED at the magnitude and reach of this conference. I’m talking dumbstruck!

During one of our zoom calls, one of the organizers says it feels like we’re constructing the plane as we’re flying, and I can confirm his observation – but we are getting it done – together! All hands on deck.

I’ll be presenting an advanced session about triangulation as well as a mini-session in the FamilySearch DNA Resource Center about finding your mother’s ancestors. I’ll share more information as it’s released and I can.

Companies and Owners Come & Go

You probably didn’t even notice some of these 2020 changes. Aside from the death of Bryan Sykes (RIP Bryan,) the big news and the even bigger unknown is the acquisition of Ancestry by Blackstone. Recently the CEO, Margo Georgiadis announced that she was stepping down. The Ancestry Board of Directors has announced an external search for a new CEO. All I can say is that very high on the priority list should be someone who IS a genealogist and who understands how DNA applies to genealogy.

Other changes included:

In the future, as genealogy and DNA testing becomes ever more popular and even more of a commodity, company sales and acquisitions will become more commonplace.

Some Companies Reduced Services and Cut Staff

I understand this too, but it’s painful. The layoffs occurred before Covid, so they didn’t result from Covid-related sales reductions. Let’s hope we see renewed investment after the Covid mess is over.

In a move that may or may not be related to an attempt to cut costs, Ancestry removed 6 and 7 cM matches from their users, freeing up processing resources, hardware, and storage requirements and thereby reducing costs.

I’m not going to beat this dead horse, because Ancestry is clearly not going to move on this issue, nor on that of the much-requested chromosome browser.

Later in the year, 23andMe also removed matches and other features, although, to their credit, they have restored at least part of this functionality and have provided ethnicity updates to V3 and V4 kits which wasn’t initially planned.

It’s also worth noting that early in 2020, 23andMe laid off 100 people as sales declined. Since that time, 23andMe has increasingly pushed consumers to pay to retest on their V5 chip.

About the same time, Ancestry also cut their workforce by about 6%, or about 100 people, also citing a slowdown in the consumer testing market. Ancestry also added a health product.

I’m not sure if we’ve reached market saturation or are simply seeing a leveling off. I wrote about that in DNA Testing Sales Decline: Reason and Reasons.

Of course, the pandemic economy where many people are either unemployed or insecure about their future isn’t helping.

The various companies need some product diversity to survive downturns. 23andMe is focused on medical research with partners who pay 23andMe for the DNA data of customers who opt-in, as does Ancestry.

Both Ancestry and MyHeritage provide subscription services for genealogy records.

FamilyTreeDNA is part of a larger company, GenebyGene whose genetics labs do processing for other companies and medical facilities.

A huge thank you to both MyHeritage and FamilyTreeDNA for NOT reducing services to customers in 2020.

Scientific Research Still Critical & Pushes Frontiers

Now that DNA testing has become a commodity, it’s easy to lose track of the fact that DNA testing is still a scientific endeavor that requires research to continue to move forward.

I’m still passionate about research after 20 years – maybe even more so now because there’s so much promise.

Research bleeds over into the consumer marketplace where products are improved and new features created allowing us to better track and understand our ancestors through their DNA that we and our family members inherit.

Here are a few of the research articles I published in 2020. You might notice a theme here – ancient DNA. What we can learn now due to new processing techniques is absolutely amazing. Labs can share files and information, providing the ability to “reprocess” the data, not the DNA itself, as more information and expertise becomes available.

Of course, in addition to this research, the Million Mito Project team is hard at work rewriting the tree of womankind.

If you’d like to participate, all you need to do is to either purchase a full sequence mitochondrial DNA kit at FamilyTreeDNA, or upgrade to the full sequence if you tested at a lower level previously.

Predictions

Predictions are risky business, but let me give it a shot.

Looking back a year, Covid wasn’t on the radar.

Looking back 5 years, neither Genetic Affairs nor DNAPainter were yet on the scene. DNAAdoption had just been formed in 2014 and DNAGedcom which was born out of DNAAdoption didn’t yet exist.

In other words, the most popular tools today didn’t exist yet.

GEDmatch, founded in 2010 by genealogists for genealogists was 5 years old, but was sold in December 2019 to Verogen.

We were begging Ancestry for a chromosome browser, and while we’ve pretty much given up beating them, because the horse is dead and they can sell DNA kits through ads focused elsewhere, that doesn’t mean genealogists still don’t need/want chromosome and segment based tools. Why, you’d think that Ancestry really doesn’t want us to break through those brick walls. That would be very bizarre, because every brick wall that falls reveals two more ancestors that need to be researched and spurs a frantic flurry of midnight searching. If you’re laughing right now, you know exactly what I mean!

Of course, if Ancestry provided a chromosome browser, it would cost development money for no additional revenue and their customer service reps would have to be able to support it. So from Ancestry’s perspective, there’s no good reason to provide us with that tool when they can sell kits without it. (Sigh.)

I’m not surprised by the management shift at Ancestry, and I wouldn’t be surprised to see several big players go public in the next decade, if not the next five years.

As companies increase in value, the number of private individuals who could afford to purchase the company decreases quickly, leaving private corporations as the only potential buyers, or becoming publicly held. Sometimes, that’s a good thing because investment dollars are infused into new product development.

What we desperately need, and I predict will happen one way or another is a marriage of individual tools and functions that exist separately today, with a dash of innovation. We need tools that will move beyond confirming existing ancestors – and will be able to identify ancestors through our DNA – out beyond each and every brick wall.

If a tester’s DNA matches to multiple people in a group descended from a particular previously unknown couple, and the timing and geography fits as well, that provides genealogical researchers with the hint they need to begin excavating the traditional records, looking for a connection.

In fact, this is exactly what happened with mitochondrial DNA – twice now. A match and a great deal of digging by one extremely persistent cousin resulting in identifying potential parents for a brick-wall ancestor. Autosomal DNA then confirmed that my DNA matched with 59 other individuals who descend from that couple through multiple children.

BUT, we couldn’t confirm those ancestors using autosomal DNA UNTIL WE HAD THE NAMES of the couple. DNA has the potential to reveal those names!

I wrote about that in Mitochondrial DNA Bulldozes Brick Wall and will be discussing it further in my RootsTech presentation.

The Challenge

We have most of the individual technology pieces today to get this done. Of course, the combined technological solution would require significant computing resources and processing power – just at the same time that vendors are desperately trying to pare costs to a minimum.

Some vendors simply aren’t interested, as I’ve already noted.

However, the winner, other than us genealogists, of course, will be the vendor who can either devise solutions or partner with others to create the right mix of tools that will combine matching, triangulation, and trees of your matches to each other, even if you don’t’ share a common ancestor.

We need to follow the DNA past the current end of the branch of our tree.

Each triangulated segment has an individual history that will lead not just to known ancestors, but to their unknown ancestors as well. We have reached critical mass in terms of how many people have tested – and more success would encourage more and more people to test.

There is a genetic path over every single brick wall in our genealogy.

Yes, I know that’s a bold statement. It’s not future Jetson’s flying-cars stuff. It’s doable – but it’s a matter of commitment, investment money, and finding a way to recoup that investment.

I don’t think it’s possible for the one-time purchase of a $39-$99 DNA test, especially when it’s not a loss-leader for something else like a records or data subscription (MyHeritage and Ancestry) or a medical research partnership (Ancestry and 23andMe.)

We’re performing these analysis processes manually and piecemeal today. It’s extremely inefficient and labor-intensive – which is why it often fails. People give up. And the process is painful, even when it does succeed.

This process has also been made increasingly difficult when some vendors block tools that help genealogists by downloading match and ancestral tree information. Before Ancestry closed access, I was creating theories based on common ancestors in my matches trees that weren’t in mine – then testing those theories both genetically (clusters, AutoTrees and ThruLines) and also by digging into traditional records to search for the genetic connection.

For example, I’m desperate to identify the parents of my James Lee Clarkson/Claxton, so I sorted my spreadsheet by surname and began evaluating everyone who had a Clarkson/Claxton in their tree in the 1700s in Virginia or North Carolina. But I can’t do that anymore now, either with a third-party tool or directly at Ancestry. Twenty million DNA kits sold for a minimum of $79 equals more than 1.5 billion dollars. Obviously, the issue here is not a lack of funds.

Including Y and mitochondrial DNA resources in our genetic toolbox not only confirms accuracy but also provides additional hints and clues.

Sometimes we start with Y DNA or mitochondrial DNA, and wind up using autosomal and sometimes the reverse. These are not competing products. It’s not either/or – it’s *and*.

Personally, I don’t expect the vendors to provide this game-changing complex functionality for free. I would be glad to pay for a subscription for top-of-the-line innovation and tools. In what other industry do consumers expect to pay for an item once and receive constant life-long innovations and upgrades? That doesn’t happen with software, phones nor with automobiles. I want vendors to be profitable so that they can invest in new tools that leverage the power of computing for genealogists to solve currently unsolvable problems.

Every single end-of-line ancestor in your tree represents a brick wall you need to overcome.

If you compare the cost of books, library visits, courthouse trips, and other research endeavors that often produce exactly nothing, these types of genetic tools would be both a godsend and an incredible value.

That’s it.

That’s the challenge, a gauntlet of sorts.

Who’s going to pick it up?

I can’t answer that question, but I can say that 23andMe can’t do this without supporting extensive trees, and Ancestry has shown absolutely no inclination to support segment data. You can’t achieve this goal without segment information or without trees.

Among the current players, that leaves two DNA testing companies and a few top-notch third parties as candidates – although – as the past has proven, the future is uncertain, fluid, and everchanging.

It will be interesting to see what I’m writing at the end of 2025, or maybe even at the end of 2021.

Stay tuned.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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2019: The Year and Decade of Change

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2019 ends both a year and a decade. In the genealogy and genetic genealogy world, the overwhelmingly appropriate word to define both is “change.”

Everything has changed.

Millions more records are online now than ever before, both through the Big 3, being FamilySearch, MyHeritage and Ancestry, but also through multitudes of other sites preserving our history. Everyplace from National Archives to individual blogs celebrating history and ancestors.

All you need to do is google to find more than ever before.

I don’t know about you, but I’ve made more progress in the past decade that in all of the previous ones combined.

Just Beginning?

If you’re just beginning with genetic genealogy, welcome! I wrote this article just for you to see what to expect when your DNA results are returned.

If you’ve been working with genetic genealogy results for some time, or would like a great review of the landscape, let’s take this opportunity to take a look at how far we’ve come in the past year and decade.

It’s been quite a ride!

What Has Changed?

EVERYTHING

Literally.

A decade ago, we had Y and mitochondrial DNA, but just the beginning of the autosomal revolution in the genetic genealogy space.

In 2010, Family Tree DNA had been in business for a decade and offered both Y and mitochondrial DNA testing.

Ancestry offered a similar Y and mtDNA product, but not entirely the same markers, nor full sequence mitochondrial. Ancestry subsequently discontinued that testing and destroyed the matching database. Ancestry bought the Sorenson database that included Y, mitochondrial and autosomal, then destroyed that data base too.

23andMe was founded in 2006 and began autosomal testing in 2007 for health and genealogy. Genealogists piled on that bandwagon.

Family Tree DNA added autosomal to their menu in 2010, but Ancestry didn’t offer an autosomal product until 2012 and MyHeritage not until 2016. Both Ancestry and MyHeritage have launched massive marketing and ad campaigns to help people figure out “who they are,” and who their ancestors were too.

Family Tree DNA

2019 FTDNA

Family Tree DNA had a banner year with the Big Y-700 product, adding over 211,000 Y DNA SNPs in 2019 alone to total more than 438,000 by year end, many of which became newly defined haplogroups. You can read more here. Additionally, Family Tree DNA introduced the Block Tree and public Y and public mitochondrial DNA trees.

Anyone who ignores Y DNA testing does so at their own peril. Information produced by Y DNA testing (and for that matter, mitochondrial too) cannot be obtained any other way. I wrote about utilizing mitochondrial DNA here and a series about how to utilize Y DNA begins in a few days.

Family Tree DNA remains the premier commercial testing company to offer high resolution and full sequence testing and matching, which of course is the key to finding genealogy solutions.

In the autosomal space, Family Tree DNA is the only testing company to provide Phased Family Matching which uses your matches on both sides of your tree, assuming you link 3rd cousins or closer, to assign other testers to specific parental sides of your tree.

Family Tree DNA accepts free uploads from other testing companies with the unlock for advanced features only $19. You can read about that here and here.

MyHeritage

MyHeritage, the DNA testing dark horse, has come from behind from their late entry into the field in 2016 with focused Europeans ads and the purchase of Promethease in 2019. Their database stands at 3.7 million, not as many as either Ancestry or 23andMe, but for many people, including me – MyHeritage is much more useful, especially for my European lines. Not only is MyHeritage a genealogy company, piloted by Gilad Japhet, a passionate genealogist, but they have introduced easy-to-use advanced tools for consumers during 2019 to take the functionality lead in autosomal DNA.

2019 MyHeritage.png

You can read more about MyHeritage and their 2019 accomplishments, here.

As far as I’m concerned, the MyHeritage bases-loaded 4-product “Home Run” makes MyHeritage the best solution for genetic genealogy via either testing or transfer:

  • Triangulation – shows testers where 3 or more people match each other. You can read more, here.
  • Tree Matching – SmartMatching for both DNA testers and those who have not DNA tested
  • Theories of Family Relativity – a wonderful new tool introduced in February. You can read more here.
  • AutoClusters – Integrated cluster technology helps you to visualize which groups of people match each other.

One of their best features, Theories of Family Relativity connects the dots between people you DNA match with disparate trees and other documents, such as census. This helps you and others break down long-standing brick walls. You can read more, here.

MyHeritage encourages uploads from other testing companies with basic functions such as matching for free. Advanced features cost either a one-time unlock fee of $29 or are included with a full subscription which you can try for free, here. You can read about what is free and what isn’t, here.

You can develop a testing and upload strategy along with finding instructions for how to upload here and here.

23andMe

Today, 23andMe is best known for health, having recovered after having had their wings clipped a few years back by the FDA. They were the first to offer Health results, leveraging the genealogy marketspace to attract testers, but have recently been eclipsed by both Family Tree DNA with their high end full Exome Tovana test and MyHeritage with their Health upgrade which provides more information than 23andMe along with free genetic counseling if appropriate. Both the Family Tree DNA and MyHeritage tests are medically supervised, so can deliver more results.

23andMe has never fully embraced genetic genealogy by adding the ability to upload and compare trees. In 2019, they introduced a beta function to attempt to create a genetic tree on your behalf based on how your matches match you and each other.

2019 23andMe.png

These trees aren’t accurate today, nor are they deep, but they are a beginning – especially considering that they are not based on existing trees. You can read more here.

The best 23andMe feature for genealogy, as far as I’m concerned, is their ethnicity along with the fact that they actually provide testers with the locations of their ethnicity segments which can help testers immensely, especially with minority ancestry matching. You can read about how to do this for yourself, here.

23andMe generally does not allow uploads, probably because they need people to test on their custom-designed medical chip. Very rarely, once that I know of in 2018, they do allow uploads – but in the past, uploaders do not receive all of the genealogy features and benefits of testing.

You can however, download your DNA file from 23andMe and upload elsewhere, with instructions here.

Ancestry

Ancestry is widely known for their ethnicity ads which are extremely effective in recruiting new testers. That’s the great news. The results are frustrating to seasoned genealogists who get to deal with the fallout of confused people trying to figure out why their results don’t match their expectations and family stories. That’s the not-so-great news.

However, with more than 15 million testers, many of whom DO have genealogy trees, a serious genealogist can’t *NOT* test at Ancestry. Testers do need to be aware that not all features are available to DNA testers who don’t also subscribe to Ancestry’s genealogy subscriptions. For example, you can’t see your matches’ trees beyond a 5 generation preview without a subscription. You can read more about what you do and don’t receive, here.

Ancestry is the only one of the major companies that doesn’t provide a chromosome browser, despite pleas for years to do so, but they do provide ThruLines that show you other testers who match your DNA and show a common ancestor with you in their trees.

2019 Ancestry.png

ThruLines will also link partial trees – showing you ancestral descendants from the perspective of the ancestor in question, shown above. You can read about ThruLines, here.

Of course, without a chromosome browser, this match is only as good as the associated trees, and there is no way to prove the genealogical connection. It’s possible to all be wrong together, or to be related to some people through a completely different ancestor. Third party tools like Genetic Affairs and cluster technology help resolve these types of issues. You can read more, here.

You can’t upload DNA files from other testing companies to Ancestry, probably due to their custom medical chip. You can download your file from Ancestry and upload to other locations, with instructions here.

Selling Customers’ DNA

Neither Family Tree DNA, MyHeritage nor Gedmatch sell, lease or otherwise share their customers’ DNA, and all three state (minimally) they will not in the future without prior authorization.

All companies utilize their customers’ DNA internally to enhance and improve their products. That’s perfectly normal.

Both Ancestry and 23andMe sell consumers DNA to both known and unknown partners if customers opt-in to additional research. That’s the purpose of all those questions.

If you do agree or opt-in, and for those who tested prior to when the opt-in began, consumers don’t know who their DNA has been sold to, where it is or for what purposes it’s being utilized. Although anonymized (pseudonymized) before sale, autosomal results can easily be identified to the originating tester (if someone were inclined to do so) as demonstrated by adoptees identifying parents and law enforcement identifying both long deceased remains and criminal perpetrators of violent crimes. You can read more about re-identification here, although keep in mind that the re-identification frequency (%) would be much higher now than it was in 2018.

People are widely split on this issue. Whatever you decide, to opt-in or not, just be sure to do your homework first.

Always read the terms and conditions fully and carefully of anything having to do with genetics.

Genealogy

The bottom line to genetic genealogy is the genealogy aspect. Genealogists want to confirm ancestors and discover more about those ancestors. Some information can only be discovered via DNA testing today, distant Native heritage, for example, breaking through brick walls.

This technology, as it has advanced and more people have tested, has been a godsend for genealogists. The same techniques have allowed other people to locate unknown parents, grandparents and close relatives.

Adoptees

Not only are genealogists identifying people long in the past that are their ancestors, but adoptees and those seeking unknown parents are making discoveries much closer to home. MyHeritage has twice provided thousands of free DNA tests via their DNAQuest program to adoptees seeking their biological family with some amazing results.

The difference between genealogy, which looks back in time several generations, and parent or grand-parent searches is that unknown-parent searches use matches to come forward in time to identify parents, not backwards in time to identify distant ancestors in common.

Adoptee matching is about identifying descendants in common. According to Erlich et al in an October 2018 paper, here, about 60% of people with European ancestry could be identified. With the database growth since that time, that percentage has risen, I’m sure.

You can read more about the adoption search technique and how it is used, here.

Adoptee searches have spawned their own subculture of sorts, with researchers and search angels that specialize in making these connections. Do be aware that while many reunions are joyful, not all discoveries are positively received and the revelations can be traumatic for all parties involved.

There’s ying and yang involved, of course, and the exact same techniques used for identifying biological parents are also used to identify cold-case deceased victims of crime as well as violent criminals, meaning rapists and murderers.

Crimes Solved

The use of genetic genealogy and adoptee search techniques for identifying skeletal remains of crime victims, as well as identifying criminals in order that they can be arrested and removed from the population has resulted in a huge chasm and division in the genetic genealogy community.

These same issues have become popular topics in the press, often authored by people who have no experience in this field, don’t understand how these techniques are applied or function and/or are more interested in a sensational story than in the truth. The word click-bait springs to mind although certainly doesn’t apply equally to all.

Some testers are adamantly pro-usage of their DNA in order to identify victims and apprehend violent criminals. Other testers, not so much and some, on the other end of the spectrum are vehemently opposed. This is a highly personal topic with extremely strong emotions on both sides.

The first such case was the Golden State Killer, which has been followed in the past 18 months or so by another 100+ solved cases.

Regardless of whether or not people want their own DNA to be utilized to identify these criminals and victims, providing closure for families, I suspect the one thing we can all agree on is that we are grateful that these violent criminals no longer live among us and are no longer preying on innocent victims.

I wrote about the Golden State Killer, here, as well as other articles here, here, here and here.

In the genealogy community, various vendors have adopted quite different strategies relating to these kinds of searches, as follows:

  • Ancestry, 23andMe and MyHeritage – have committed to fight all access attempts by law enforcement, including court ordered subpoenas.
  • MyHeritage, Family Tree DNA and GedMatch allow uploads, so forensic kits, meaning kits from deceased remains or rape kits could be uploaded to search for matches, the same as any other kit. Law Enforcement uploads violate the MyHeritage terms of service. Both Family Tree DNA and GEDmatch have special law enforcement procedures in place. All three companies have measures in place to attempt to detect unauthorized forensic uploads.
  • Family Tree DNA has provided a specific Law Enforcement protocol and guidelines for forensic uploads, here. All EU customers were opted out earlier in 2019, but all new or existing non-EU customers need to opt out if they do not want their DNA results available for matching to law enforcement kits.
  • GEDmatch was recently sold to Verogen, a DNA forensics company, with information, here. Currently GEDMatch customers are opted-out of matching for law enforcement kits, but can opt-in. Verogen, upon purchase of GEDmatch, required all users to read the terms and conditions and either accept the terms or delete their kits. Users can also delete their kits or turn off/on law enforcement matching at any time.

New Concerns

Concerns in late 2019 have focused on the potential misuse of genetic matching to potentially target subsets of individuals by despotic regimes such as has been done by China to the Uighurs.

You can read about potential risks here, here and here, along with a recent DoD memo here.

Some issues spelled out in the papers can be resolved by vendors agreeing to cryptographically sign their files when customers download. Of course, this would require that everyone, meaning all vendors, play nice in the sandbox. So far, that hasn’t happened although I would expect that the vendors accepting uploads would welcome cryptographic signatures. That pretty much leaves Ancestry and 23andMe. I hope they will step up to the plate for the good of the industry as a whole.

Relative to the concerns voiced in the papers and by the DoD, I do not wish to understate any risks. There ARE certainly risks of family members being identified via DNA testing, which is, after all, the initial purpose even though the current (and future) uses were not foreseen initially.

In most cases, the cow has already left that barn. Even if someone new chooses not to test, the critical threshold is now past to prevent identification of individuals, at least within the US and/or European diaspora communities.

I do have concerns:

  • Websites where the owners are not known in the genealogical community could be collecting uploads for clandestine purposes. “Free” sites are extremely attractive to novices who tend to forget that if you’re not paying for the product, you ARE the product. Please be very cognizant and leery. Actually, just say no unless you’re positive.
  • Fearmongering and click-bait articles in general will prevent and are already causing knee-jerk reactions, causing potential testers to reject DNA testing outright, without doing any research or reading terms and conditions.
  • That Ancestry and 23andMe, the two major vendors who don’t accept uploads will refuse to add crypto-signatures to protect their customers who download files.

Every person needs to carefully make their own decisions about DNA testing and participating in sharing through third party sites.

Health

Not surprisingly, the DNA testing market space has cooled a bit this past year. This slowdown is likely due to a number of factors such as negative press and the fact that perhaps the genealogical market is becoming somewhat saturated. Although, I suspect that when vendors announce major new tools, their DNA kit sales spike accordingly.

Look at it this way, do you know any serious genealogists who haven’t DNA tested? Most are in all of the major databases, meaning Ancestry, 23andMe, FamilyTreeDNA, MyHeritage and GedMatch.

All of the testing companies mentioned above (except GEDmatch who is not a testing company) now have a Health offering, designed to offer existing and new customers additional value for their DNA testing dollar.

23andMe separated their genealogy and health offering years ago. Ancestry and MyHeritage now offer a Health upgrade. For existing customers, FamilyTreeDNA offers the Cadillac of health tests through Tovana.

I would guess it goes without saying here that if you really don’t want to know about potential health issues, don’t purchase these tests. The flip side is, of course, that most of the time, a genetic predisposition is nothing more and not a death sentence.

From my own perspective, I found the health tests to be informative, actionable and in some cases, they have been lifesaving for friends.

Whoever knew genealogy might save your life.

Innovative Third-Party Tools

Tools, and fads, come and go.

In the genetic genealogy space, over the years, tools have burst on the scene to disappear a few months later. However, the last few years have been won by third party tools developed by well-known and respected community members who have created tools to assist other genealogists.

As we close this decade, these are my picks of the tools that I use almost daily, have proven to be the most useful genealogically and that I feel I just “couldn’t live without.”

And yes, before you ask, some of these have a bit of a learning curve, but if you are serious about genealogy, these are all well worthwhile:

  • GedMatch – offers a wife variety of tools including triangulation, half versus fully identical segments and the ability to see who your matches also match. One of the tools I utilize regularly is segment search to see who else matches me on a specific segment, attached to an ancestor I’m researching. GedMatch, started by genealogists, has lasted more than a decade prior to the sale in December 2019.
  • Genetic Affairs – a barn-burning newcomer developed by Evert-Jan Blom in 2018 wins this years’ “Best” award from me, titled appropriately, the “SNiPPY.”.

Genetic Affairs 2019 SNiPPY Award.png

Genetic Affairs offers clustering, tree building between your matches even when YOU don’t have a tree. You can read more here.

2019 genetic affairs.png

Just today, Genetic Affairs released a new cluster interface with DNAPainter, example shown above.

  • DNAPainter – THE chromosome painter created by Jonny Perl just gets better and better, having added pedigree tree construction this year and other abilities. I wrote a composite instructional article, here.
  • DNAGedcom.com and Genetic.Families, affiliated with DNAAdoption.org – Rob Warthen in collaboration with others provides tools like clustering combined with triangulation. My favorite feature is the gathering of all direct ancestors of my matches’ trees at the various vendors where I’ve DNA tested which allows me to search for common surnames and locations, providing invaluable hints not otherwise available.

Promising Newcomer

  • MitoYDNA – a non-profit newcomer by folks affiliated with DNAAdoption and DNAGedcom is designed to replace YSearch and MitoSearch, both felled by the GDPR ax in 2018. This website allows people to upload their Y and mitochondrial DNA results and compare the values to each other, not just for matching, which you can do at Family Tree DNA, but also to see the values that do and don’t match and how they differ. I’ll be taking MitoYDNA for a test drive after the first of the year and will share the results with you.

The Future

What does the future hold? I almost hesitate to guess.

  • Artificial Intelligence Pedigree Chart – I think that in the not-too-distant future we’ll see the ability to provide testers with a “one and done” pedigree chart. In other words, you will test and receive at least some portion of your genealogy all tidily presented, red ribbon untied and scroll rolled out in front of you like you’re the guest on one of those genealogy TV shows.

Except it’s not a show and is a result of DNA testing, segment triangulation, trees and other tools which narrow your ancestors to only a few select possibilities.

Notice I said, “the ability to.” Just because we have the ability doesn’t mean a vendor will implement this functionality. In fact, just think about the massive businesses built upon the fact that we, as genealogists, have to SEARCH incessantly for these elusive answers. Would it be in the best interest of these companies to just GIVE you those answers when you test?

If not, then these types of answers will rest with third parties. However, there’s a hitch. Vendors generally don’t welcome third parties offering advanced tools and therefore block those tools, even though they are being used BY the customer or with their explicit authorization to massage their own data.

On the other hand, as a genealogist, I would welcome this feature with open arms – because as far as I’m concerned, the identification of that ancestor is just the first step. I get to know them by fleshing out their bones by utilizing those research records.

In fact, I’m willing to pony up to the table and I promise, oh-so-faithfully, to maintain my subscription lifelong if one of those vendors will just test me. Please, please, oh pretty-please put me to the test!

I guess you know what my New Year’s Wish is for this and upcoming years now too😊

What About You?

What do you think the high points of 2019 have been?

How about the decade?

What do you think the future holds?

Do you care to make any predictions?

Are you planning to focus on any particular goal or genealogy problem in 2020?

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Genealogy Research

Fun DNA Stuff

  • Celebrate DNA – customized DNA themed t-shirts, bags and other items

2018 – The Year of the Segment

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Looking in the rear view mirror, what a year! Some days it’s been hard to catch your breath things have been moving so fast.

What were the major happenings, how did they affect genetic genealogy and what’s coming in 2019?

The SNiPPY Award

First of all, I’m giving an award this year. The SNiPPY.

Yea, I know it’s kinda hokey, but it’s my way of saying a huge thank you to someone in this field who has made a remarkable contribution and that deserves special recognition.

Who will it be this year?

Drum roll…….

The 2018 SNiPPY goes to…

DNAPainter – The 2018 SNiPPY award goes to DNAPainter, without question. Applause, everyone, applause! And congratulations to Jonny Perl, pictured below at Rootstech!

Jonny Perl created this wonderful, visual tool that allows you to paint your matches with people on your chromosomes, assigning the match to specific ancestors.

I’ve written about how to use the tool  with different vendors results and have discovered many different ways to utilize the painted segments. The DNA Painter User Group is here on Facebook. I use DNAPainter EVERY SINGLE DAY to solve a wide variety of challenges.

What else has happened this year? A lot!

Ancient DNA – Academic research seldom reports on Y and mitochondrial DNA today and is firmly focused on sequencing ancient DNA. Ancient genome sequencing has only recently been developed to a state where at least some remains can be successfully sequenced, but it’s going great guns now. Take a look at Jennifer Raff’s article in Forbes that discusses ancient DNA findings in the Americas, Europe, Southeast Asia and perhaps most surprising, a first generation descendant of a Neanderthal and a Denisovan.

From Early human dispersals within the Americas by Moreno-Mayer et al, Science 07 Dec 2018

Inroads were made into deeper understanding of human migration in the Americas as well in the paper Early human dispersals within the Americas by Moreno-Mayer et al.

I look for 2019 and on into the future to hold many more revelations thanks to ancient DNA sequencing as well as using those sequences to assist in understanding the migration patterns of ancient people that eventually became us.

Barbara Rae-Venter and the Golden State Killer Case

Using techniques that adoptees use to identify their close relatives and eventually, their parents, Barbara Rae-Venter assisted law enforcement with identifying the man, Joseph DeAngelo, accused (not yet convicted) of being the Golden State Killer (GSK).

A very large congratulations to Barbara, a retired patent attorney who is also a genealogist. Nature recognized Ms. Rae-Venter as one of 2018’s 10 People Who Mattered in Science.

DNA in the News

DNA is also represented on the 2018 Nature list by Viviane Slon, a palaeogeneticist who discovered an ancient half Neanderthal, half Denisovan individual and sequenced their DNA and He JianKui, a Chinese scientist who claims to have created a gene-edited baby which has sparked widespread controversy. As of the end of the year, He Jiankui’s research activities have been suspended and he is reportedly sequestered in his apartment, under guard, although the details are far from clear.

In 2013, 23andMe patented the technology for designer babies and I removed my kit from their research program. I was concerned at the time that this technology knife could cut two ways, both for good, eliminating fatal disease-causing mutations and also for ethically questionable practices, such as eugenics. I was told at the time that my fears were unfounded, because that “couldn’t be done.” Well, 5 years later, here we are. I expect the debate about the ethics and eventual regulation of gene-editing will rage globally for years to come.

Elizabeth Warren’s DNA was also in the news when she took a DNA test in response to political challenges. I wrote about what those results meant scientifically, here. This topic became highly volatile and politicized, with everyone seeming to have a very strongly held opinion. Regardless of where you fall on that opinion spectrum (and no, please do not post political comments as they will not be approved), the topic is likely to surface again in 2019 due to the fact that Elizabeth Warren has just today announced her intention to run for President. The good news is that DNA testing will likely be discussed, sparking curiosity in some people, perhaps encouraging them to test. The bad news is that some of the discussion may be unpleasant at best, and incorrect click-bait at worst. We’ve already had a rather unpleasant sampling of this.

Law Enforcement and Genetic Genealogy

The Golden State Killer case sparked widespread controversy about using GedMatch and potentially other genetic genealogy data bases to assist in catching people who have committed violent crimes, such as rape and murder.

GedMatch, the database used for the GSK case has made it very clear in their terms and conditions that DNA matches may be used for both adoptees seeking their families and for other uses, such as law enforcement seeking matches to DNA sequenced during a criminal investigation. Since April 2018, more than 15 cold case investigations have been solved using the same technique and results at GedMatch. Initially some people removed their DNA from GedMatch, but it appears that the overwhelming sentiment, based on uploads, is that people either aren’t concerned or welcome the opportunity for their DNA matches to assist apprehending criminals.

Parabon Nanolabs in May established a genetic genealogy division headed by CeCe Moore who has worked in the adoptee community for the past several years. The division specializes in DNA testing forensic samples and then assisting law enforcement with the associated genetic genealogy.

Currently, GedMatch is the only vendor supporting the use of forensic sample matching. Neither 23anMe nor Ancestry allow uploaded data, and MyHeritage and Family Tree DNA’s terms of service currently preclude this type of use.

MyHeritage

Wow talk about coming onto the DNA world stage with a boom.

MyHeritage went from a somewhat wobbly DNA start about 2 years ago to rolling out a chromosome browser at the end of January and adding important features such as SmartMatching which matches your DNA and your family trees. Add triangulation to this mixture, along with record matching, and you’re got a #1 winning combination.

It was Gilad Japhet, the MyHeritage CEO who at Rootstech who christened 2018 “The Year of the Segment,” and I do believe he was right. Additionally, he announced that MyHeritage partnered with the adoption community by offering 15,000 free kits to adoptees.

In November, MyHeritage hosted MyHeritage LIVE, their first user conference in Oslo, Norway which focused on both their genealogical records offerings as well as DNA. This was a resounding success and I hope MyHeritage will continue to sponsor conferences and invest in DNA. You can test your DNA at MyHeritage or upload your results from other vendors (instructions here). You can follow my journey and the conference in Olso here, here, here, here and here.

GDPR

GDPR caused a lot of misery, and I’m glad the implementation is behind us, but the the ripples will be affecting everyone for years to come.

GDPR, the European Data Protection Regulation which went into effect on May 25,  2018 has been a mixed and confusing bag for genetic genealogy. I think the concept of users being in charge and understanding what is happened with their data, and in this case, their data plus their DNA, is absolutely sound. The requirements however, were created without any consideration to this industry – which is small by comparison to the Googles and Facebooks of the world. However, the Googles and Facebooks of the world along with many larger vendors seem to have skated, at least somewhat.

Other companies shut their doors or restricted their offerings in other ways, such as World Families Network and Oxford Ancestors. Vendors such as Ancestry and Family Tree DNA had to make unpopular changes in how their users interface with their software – in essence making genetic genealogy more difficult without any corresponding positive return. The potential fines, 20 million plus Euro for any company holding data for EU residents made it unwise to ignore the mandates.

In the genetic genealogy space, the shuttering of both YSearch and MitoSearch was heartbreaking, because that was the only location where you could actually compare Y STR and mitochondrial HVR1/2 results. Not everyone uploaded their results, and the sites had not been updated in a number of years, but the closure due to GDPR was still a community loss.

Today, mitoydna.org, a nonprofit comprised of genetic genealogists, is making strides in replacing that lost functionality, plus, hopefully more.

On to more positive events.

Family Tree DNA

In April, Family Tree DNA announced a new version of the Big Y test, the Big Y-500 in which at least 389 additional STR markers are included with the Big Y test, for free. If you’re lucky, you’ll receive between 389 and 439 new markers, depending on how many STR markers above 111 have quality reads. All customers are guaranteed a minimum of 500 STR markers in total. Matching was implemented in December.

These additional STR markers allow genealogists to assemble additional line marker mutations to more granularly identify specific male lineages. In other words, maybe I can finally figure out a line marker mutation that will differentiate my ancestor’s line from other sons of my founding ancestor😊

In June, Family Tree DNA announced that they had named more than 100,000 SNPs which means many haplogroup additions to the Y tree. Then, in September, Family Tree DNA published their Y haplotree, with locations, publicly for all to reference.

I was very pleased to see this development, because Family Tree DNA clearly has the largest Y database in the industry, by far, and now everyone can reap the benefits.

In October, Family Tree DNA published their mitochondrial tree publicly as well, with corresponding haplogroup locations. It’s nice that Family Tree DNA continues to be the science company.

You can test your Y DNA, mitochondrial or autosomal (Family Finder) at Family Tree DNA. They are the only vendor offering full Y and mitochondrial services complete with matching.

2018 Conferences

Of course, there are always the national conferences we’re familiar with, but more and more, online conferences are becoming available, as well as some sessions from the more traditional conferences.

I attended Rootstech in Salt Lake City in February (brrrr), which was lots of fun because I got to meet and visit with so many people including Mags Gaulden, above, who is a WikiTree volunteer and writes at Grandma’s Genes, but as a relatively expensive conference to attend, Rootstech was pretty miserable. Rootstech has reportedly made changes and I hope it’s much better for attendees in 2019. My attendance is very doubtful, although I vacillate back and forth.

On the other hand, the MyHeritage LIVE conference was amazing with both livestreamed and recorded sessions which are now available free here along with many others at Legacy Family Tree Webinars.

Family Tree University held a Virtual DNA Conference in June and those sessions, along with others, are available for subscribers to view.

The Virtual Genealogical Association was formed for those who find it difficult or impossible to participate in local associations. They too are focused on education via webinars.

Genetic Genealogy Ireland continues to provide their yearly conference sessions both livestreamed and recorded for free. These aren’t just for people with Irish genealogy. Everyone can benefit and I enjoy them immensely.

Bottom line, you can sit at home and educate yourself now. Technology is wonderful!

2019 Conferences

In 2019, I’ll be speaking at the National Genealogical Society Family History Conference, Journey of Discovery, in St. Charles, providing the Special Thursday Session titled “DNA: King Arthur’s Mighty Genetic Lightsaber” about how to use DNA to break through brick walls. I’ll also see attendees at Saturday lunch when I’ll be providing a fun session titled “Twists and Turns in the Genetic Road.” This is going to be a great conference with a wonderful lineup of speakers. Hope to see you there.

There may be more speaking engagements at conferences on my 2019 schedule, so stay tuned!

The Leeds Method

In September, Dana Leeds publicized The Leeds Method, another way of grouping your matches that clusters matches in a way that indicates your four grandparents.

I combine the Leeds method with DNAPainter. Great job Dana!

Genetic Affairs

In December, Genetic Affairs introduced an inexpensive subscription reporting and visual clustering methodology, but you can try it for free.

I love this grouping tool. I have already found connections I didn’t know existed previously. I suggest joining the Genetic Affairs User Group on Facebook.

DNAGedcom.com

I wrote an article in January about how to use the DNAGedcom.com client to download the trees of all of your matches and sort to find specific surnames or locations of their ancestors.

However, in December, DNAGedcom.com added another feature with their new DNAGedcom client just released that downloads your match information from all vendors, compiles it and then forms clusters. They have worked with Dana Leeds on this, so it’s a combination of the various methodologies discussed above. I have not worked with the new tool yet, as it has just been released, but Kitty Cooper has and writes about it here.  If you are interested in this approach, I would suggest joining the Facebook DNAGedcom User Group.

Rootsfinder

I have not had a chance to work with Rootsfinder beyond the very basics, but Rootsfinder provides genetic network displays for people that you match, as well as triangulated views. Genetic networks visualizations are great ways to discern patterns. The tool creates match or triangulation groups automatically for you.

Training videos are available at the website and you can join the Rootsfinder DNA Tools group at Facebook.

Chips and Imputation

Illumina, the chip maker that provides the DNA chips that most vendors use to test changed from the OmniExpress to the GSA chip during the past year. Older chips have been available, but won’t be forever.

The newer GSA chip is only partially compatible with the OmniExpress chip, providing limited overlap between the older and the new results. This has forced the vendors to use imputation to equalize the playing field between the chips, so to speak.

This has also caused a significant hardship for GedMatch who is now in the position of trying to match reasonably between many different chips that sometimes overlap minimally. GedMatch introduced Genesis as a sandbox beta version previously, but are now in the process of combining regular GedMatch and Genesis into one. Yes, there are problems and matching challenges. Patience is the key word as the various vendors and GedMatch adapt and improve their required migration to imputation.

DNA Central

In June Blaine Bettinger announced DNACentral, an online monthly or yearly subscription site as well as a monthly newsletter that covers news in the genetic genealogy industry.

Many educators in the industry have created seminars for DNACentral. I just finished recording “Getting the Most out of Y DNA” for Blaine.

Even though I work in this industry, I still subscribed – initially to show support for Blaine, thinking I might not get much out of the newsletter. I’m pleased to say that I was wrong. I enjoy the newsletter and will be watching sessions in the Course Library and the Monthly Webinars soon.

If you or someone you know is looking for “how to” videos for each vendor, DNACentral offers “Now What” courses for Ancestry, MyHeritage, 23andMe, Family Tree DNA and Living DNA in addition to topic specific sessions like the X chromosome, for example.

Social Media

2018 has seen a huge jump in social media usage which is both bad and good. The good news is that many new people are engaged. The bad news is that people often given faulty advice and for new people, it’s very difficult (nigh on impossible) to tell who is credible and who isn’t. I created a Help page for just this reason.

You can help with this issue by recommending subscribing to these three blogs, not just reading an article, to newbies or people seeking answers.

Always feel free to post links to my articles on any social media platform. Share, retweet, whatever it takes to get the words out!

The general genetic genealogy social media group I would recommend if I were to select only one would be Genetic Genealogy Tips and Techniques. It’s quite large but well-managed and remains positive.

I’m a member of many additional groups, several of which are vendor or interest specific.

Genetic Snakeoil

Now the bad news. Everyone had noticed the popularity of DNA testing – including shady characters.

Be careful, very VERY careful who you purchase products from and where you upload your DNA data.

If something is free, and you’re not within a well-known community, then YOU ARE THE PRODUCT. If it sounds too good to be true, it probably is. If it sounds shady or questionable, it’s probably that and more, or less.

If reputable people and vendors tell you that no, they really can’t determine your Native American tribe, for example, no other vendor can either. Just yesterday, a cousin sent me a link to a “tribe” in Canada that will, “for $50, we find one of your aboriginal ancestors and the nation stamps it.” On their list of aboriginal people we find one of my ancestors who, based on mitochondrial DNA tests, is clearly NOT aboriginal. Snake oil comes in lots of flavors with snake oil salesmen looking to prey on other people’s desires.

When considering DNA testing or transfers, make sure you fully understand the terms and conditions, where your DNA is going, who is doing what with it, and your recourse. Yes, read every single word of those terms and conditions. For more about legalities, check out Judy Russell’s blog.

Recommended Vendors

All those DNA tests look yummy-good, but in terms of vendors, I heartily recommend staying within the known credible vendors, as follows (in alphabetical order).

For genetic genealogy for ethnicity AND matching:

  • 23andMe
  • Ancestry
  • Family Tree DNA
  • GedMatch (not a vendor because they don’t test DNA, but a reputable third party)
  • MyHeritage

You can read about Which DNA Test is Best here although I need to update this article to reflect the 2018 additions by MyHeritage.

Understand that both 23andMe and Ancestry will sell your DNA if you consent and if you consent, you will not know who is using your DNA, where, or for what purposes. Neither Family Tree DNA, GedMatch, MyHeritage, Genographic Project, Insitome, Promethease nor LivingDNA sell your DNA.

The next group of vendors offers ethnicity without matching:

  • Genographic Project by National Geographic Society
  • Insitome
  • LivingDNA (currently working on matching, but not released yet)

Health (as a consumer, meaning you receive the results)

Medical (as a contributor, meaning you are contributing your DNA for research)

  • 23andMe
  • Ancestry
  • DNA.Land (not a testing vendor, doesn’t test DNA)

There are a few other niche vendors known for specific things within the genetic genealogy community, many of whom are mentioned in this article, but other than known vendors, buyer beware. If you don’t see them listed or discussed on my blog, there’s probably a reason.

What’s Coming in 2019

Just like we couldn’t have foreseen much of what happened in 2018, we don’t have access to a 2019 crystal ball, but it looks like 2019 is taking off like a rocket. We do know about a few things to look for:

  • MyHeritage is waiting to see if envelope and stamp DNA extractions are successful so that they can be added to their database.
  • www.totheletterDNA.com is extracting (attempting to) and processing DNA from stamps and envelopes for several people in the community. Hopefully they will be successful.
  • LivingDNA has been working on matching since before I met with their representative in October of 2017 in Dublin. They are now in Beta testing for a few individuals, but they have also just changed their DNA processing chip – so how that will affect things and how soon they will have matching ready to roll out the door is unknown.
  • Ancestry did a 2018 ethnicity update, integrating ethnicity more tightly with Genetic Communities, offered genetic traits and made some minor improvements this year, along with adding one questionable feature – showing your matches the location where you live as recorded in your profile. (23andMe subsequently added the same feature.) Ancestry recently said that they are promising exciting new tools for 2019, but somehow I doubt that the chromosome browser that’s been on my Christmas list for years will be forthcoming. Fingers crossed for something new and really useful. In the mean time, we can download our DNA results and upload to MyHeritage, Family Tree DNA and GedMatch for segment matching, as well as utilize Ancestry’s internal matching tools. DNA+tree matching, those green leaf shared ancestor hints, is still their strongest feature.
  • The Family Tree DNA Conference for Project Administrators will be held March 22-24 in Houston this year, and I’m hopeful that they will have new tools and announcements at that event. I’m looking forward to seeing many old friends in Houston in March.

Here’s what I know for sure about 2019 – it’s going to be an amazing year. We as a community and also as individual genealogists will be making incredible discoveries and moving the ball forward. I can hardly wait to see what quandaries I’ve solved a year from now.

What mysteries do you want to unravel?

I’d like to offer a big thank you to everyone who made 2018 wonderful and a big toast to finding lots of new ancestors and breaking down those brick walls in 2019.

Happy New Year!!!

______________________________________________________________

Disclosure

I receive a small contribution when you click on some (but not all) of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Whole Genome Sequencing – Is It Ready for Prime Time?

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Dante Labs is offering a whole genomes test for $199 this week as an early Black Friday special.

Please note that just as I was getting ready to push the publish button on this article, Veritas Genetics also jumped on the whole sequencing bandwagon for $199 for the first 1000 testers Nov. 19 and 20th. In this article, I discuss the Dante Labs test. I have NOT reviewed Veritas, their test nor terms, so the same cautions discussed below apply to them and any other company offering whole genome sequencing. The Veritas link is here.

Update – Veritas provides the VCF file for an additional $99, but does not provide FASTQ or BAM files, per their Tweet to me.

I have no affiliation with either company.

$199 (US) is actually a great price for a whole genome test, but before you click and purchase, there are some things you need to know about whole genome sequencing (WGS) and what it can and can’t do for you. Or maybe better stated, what you’ll have to do with your own results before you can utilize the information for genealogical purposes.

The four questions you need to ask yourself are:

  • Why do you want to consider whole genome testing?
  • What question(s) are you trying to answer?
  • What information do you seek?
  • What is your testing goal?

I’m going to say this once now, and I’ll say it again at the end of the article.

Whole genome sequencing tests are NOT A REPLACEMENT FOR GENEALOGICAL DNA TESTS for mitochondrial, Y or autosomal testing. Whole genome sequencing is not a genealogy magic bullet.

There are both pros and cons of this type of purchase, as with most everything. Whole genome tests are for the most experienced and technically savvy genetic genealogists who understand both working with genetics and this field well, who have already taken the vendors’ genealogy tests and are already in the Y, mitochondrial and autosomal comparison data bases.

If that’s you or you’re interested in medical information, you might want to consider a whole genome test.

Let’s start with some basics.

What Is Whole Genome Sequencing?

Whole Genome Sequencing will sequence most of your genome. Keep in mind that humans are more than 99% identical, so the only portions that you’ll care about either medically or genealogically are the portions that differ or tend to mutate. Comparing regions where you match everyone else tells you exactly nothing at all.

Exome Sequencing – A Subset of Whole Genome

Exome sequencing, a subset of whole genome sequencing is utilized for medical testing. The Exome is the region identified as the portions most likely to mutate and that hold medically relevant information. You can read about the benefits and challenges of exome testing here.

I have had my Exome sequenced twice, once at Helix and once at Genos, now owned by NantOmics. Currently, NantOmics does not have a customer sign-in and has acquired my DNA sequence as part of the absorption of Genos. I’ll be writing about that separately. There is always some level of consumer risk in dealing with a startup.

Helix sequences your Exome (plus) so that you can order a variety of DNA based or personally themed products from their marketplace, although I’m not convinced about the utility of even the legitimacy of some of the available tests, such as the “Wine Explorer.”

On the other hand, the world-class The National Geographic Society’s Genographic Project now utilizes Helix for their testing, as does Spencer Well’s company, Insitome.

You can also pay to download your Exome sequence data separately for $499.

Autosomal Testing for Genealogy

Both whole genome and Exome testing are autosomal testing, meaning that they test chromosomes 1-22 (as opposed to Y and mitochondrial DNA) but the number of autosomal locations varies vastly between the various types of tests.

The locations selected by the genealogy testing companies are a subset of both the whole genome and the Exome. The different vendors that compare your DNA for genealogy generally utilize between 600,000 and 900,000 chip-specific locations that they have selected as being inclined to mutate – meaning that we can obtain genealogically relevant information from those mutations.

Some vendors (for example, 23andMe and Ancestry) also include some medical SNPs (single nucleotide polymorphisms) on their chips, as both have formed medical research alliances with various companies.

Whole genome and Exome sequencing includes these same locations, BUT, the whole genome providers don’t compare the files to other testers nor reduce the files to the locations useful for genealogical comparisons. In other words, they don’t create upload files for you.

The following chart is not to scale, but is meant to convey the concept that the Exome is a subset of the whole genome, and the autosomal vendors’ selected SNPs, although not the same between the companies, are all subsets of the Exome and full genome.

I have not had my whole genome sequenced because I have seen no purpose for doing so, outside of curiosity.

This is NOT to imply that you shouldn’t. However, here are some things to think about.

Whole Genome Sequencing Questions

Coverage – Medical grade coverage is considered to be 30X, meaning an average of 30 scans of every targeted location in your genome. Some will have more and some will have less. This means that your DNA is scanned thirty different times to minimize errors. If a read error happens once or twice, it’s unlikely that the same error will happen several more times. You can read about coverage here and here.

Genomics Education Programme [CC BY 2.0 (https://creativecommons.org/licenses/by/2.

Here’s an example where the read length of Read 1 is 18, and the depth of the location shown in light blue is 4, meaning 4 actual reads were obtained. If the goal was 30X, then this result would be very poor. If the goal was 4X then this location is a high quality result for a 4X read.

In the above example, if the reference value, meaning the value at the light blue location for most people is T, then 4 instances of a T means you don’t have a mutation. On the other hand, if T is not the reference value, then 4 instances of T means that a mutation has occurred in that location.

Dante Labs coverage information is provided from their webpage as follows:

Other vendors coverage values will differ, but you should always know what you are purchasing.

Ownership – Who owns your data? What happens to your DNA itself (the sample) and results (the files) under normal circumstances and if the company is sold. Typically, the assets of the company, meaning your information, are included during any acquisition.

Does the company “share, lease or sell” your information as an additional revenue stream with other entities? If so, do they ask your permission each and every time? Do they perform internal medical research and then sell the results? What, if anything, is your DNA going to be used for other than the purpose for which you purchased the test? What control do you exercise over that usage?

Read the terms and conditions carefully for every vendor before purchasing.

File Delivery – Three types of files are generated during a whole genome test.

The VCF (Variant Call Format) which details your locations that are different from the reference file. A reference file is the “normal” value for humans.

A FASTQ file which includes the nucleotide sequence along with a corresponding quality score. Mutations in a messy area or that are not consistent may not be “real” and are considered false positives.

The BAM (Binary Alignment Map) file is used for Y DNA SNP alignment. The output from a BAM file is displayed in Family Tree DNA’s Big Y browser for their customers. Are these files delivered to you? If so, how? Family Tree DNA delivers their Big Y DNA BAM files as free downloads.

Typically whole genome data is too large for a download, so it is sent on a disc drive to you. Dante provides this disc for BAM and FASTQ files for 59 Euro ($69 US) plus shipping. VCF files are available free, but if you’re going to order this product, it would be a shame not to receive everything available.

Version – Discoveries are still being made to the human genome. If you thought we’re all done with that, we’re not. As new regions are mapped successfully, the addresses for the rest change, and a new genomic map is created. Think of this as street addresses and a new cluster of houses is now inserted between existing houses. All of the houses are periodically renumbered.

Today, typically results are delivered in either of two versions: hg19(GRVH37) or hg38(GRCH38). What happens when the next hg (human genome) version is released?

When you test with a vendor who uses your data for comparison as a part of a product they offer, they must realign your data so that the comparison will work for all of their customers (think Family Tree DNA and GedMatch, for example), but a vendor who only offers the testing service has no motivation to realign your output file for you. You only pay for sequencing, not for any after-the-fact services.

Platform – Multiple sequencing platforms are available, and not all platforms are entirely compatible with other competing platforms. For example, the Illumina platform and chips may or may not be compatible with the Affymetrix platform (now Thermo Fisher) and chips. Ask about chip compatibility if you have a specific usage in mind before you purchase.

Location – Where is your DNA actually being sequenced? Are you comfortable having your DNA sent to that geographic location for processing? I’m personally fine with anyplace in either the US, Canada or most of Europe, but other locations maybe not so much. I’d have to evaluate the privacy policies, applicable laws, non-citizen recourse and track record of those countries.

Last but perhaps most important, what do you want to DO with this file/information?

Utilization

What you receive from whole genome sequencing is files. What are you going to do with those files? How can you use them? What is your purpose or goal? How technically skilled are you, and how well do you understand what needs to be done to utilize those files?

A Specific Medical Question

If you have a particular question about a specific medical location, Dante allows you to ask the question as soon as you purchase, but you must know what question to ask as they note below.

You can click on their link to view their report on genetic diseases, but keep in mind, this is the disease you specifically ask about. You will very likely NOT be able to interpret this report without a genetic counselor or physician specializing in this field.

Take a look at both sample reports, here.

Health and Wellness in General

The Dante Labs Health and Wellness Report appears to be a collaborative effort with Sequencing.com and also appears to be included in the purchase price.

I uploaded both my Exome and my autosomal DNA results from the various testing companies (23andMe V3 and V4, Ancestry V1 and V2, Family Tree DNA, LivingDNA, DNA.Land) to Promethease for evaluation and there was very little difference between the health-related information returned based on my Exome data and the autosomal testing vendors. The difference is, of course, that the Exome coverage is much deeper (and therefore more reliable) because that test is a medical test, not a consumer genealogy test and more locations are covered. Whole genome testing would be more complete.

I wrote about Promethease here and here. Promethease does accept VCF files from various vendors who provide whole genome testing.

None of these tests are designed or meant for medical interpretation by non-professionals.

Medical Testing

If you plan to test with the idea that should your physician need a genetics test, you’re already ahead of the curve, don’t be so sure. It’s likely that your physician will want a genetics test using the latest technology, from their own lab, where they understand the quality measures in place as well as how the data is presented to them. They are unlikely to accept a test from any other source. I know, because I’ve already had this experience.

Genealogical Comparisons

The power of DNA testing for genealogy is comparing your data to others. Testing in isolation is not useful.

Mitochondrial DNA – I can’t tell for sure based on the sample reports, but it appears that you receive your full sequence haplogroup and probably your mutations as well from Dante. They don’t say which version of mitochondrial DNA they utilize.

However, without the ability to compare to other testers in a database, what genealogical benefit can you derive from this information?

Furthermore, mitochondrial DNA also has “versions,” and converting from an older to a newer version is anything but trivial. Haplogroups are renamed and branches sawed from one part of the mitochondrial haplotree and grafted onto another. A testing (only) vendor that does not provide comparisons has absolutely no reason to update your results and can’t be expected to do so. V17 is the current build, released in February 2016, with the earlier version history here.

Family Tree DNA is the only vendor who tests your full sequence mitochondrial DNA, compares it to other testers and updates your results when a new version is released. You can read more about this process, here and how to work with mtDNA results here.

Y DNA – Dante Labs provides BAM files, but other whole genome sequencers may not. Check before you purchase if you are interested in Y DNA. Again, you’ll need to be able to analyze the results and submit them for comparison. If you are not capable of doing that, you’ll need to pay a third party like either YFull or FGS (Full Genome Sequencing) or take the Big Y test at Family Tree DNA who has the largest Y Database worldwide and compares results.

Typically whole genome testers are looking for Y DNA SNPs, not STR values in BAM files. STR (short tandem repeat) values are the results that you receive when you purchase the 37, 67 or 111 tests at Family Tree DNA, as compared to the Big Y test which provides you with SNPs in order to resolve your haplogroup at the most granular level possible. You can read about the difference between SNPs and STRs here.

As with SNP data, you’ll need outside assistance to extract your STR information from the whole genome sequence information, none of which will be able to be compared with the testers in the Family Tree DNA data base. There is also an issue of copy-count standardization between vendors.

You can read about how to work with STR results and matches here and Big Y results here.

Autosomal DNA – None of the major providers that accept transfers (MyHeritage, Family Tree DNA, GedMatch) accept whole genome files. You would need to find a methodology of reducing the files from the whole genome to the autosomal SNPs accepted by the various vendors. If the vendors adopt the digital signature technology recently proposed in this paper by Yaniv Erlich et al to prevent “spoofed files,” modified files won’t be accepted by vendors.

Summary

Whole genome testing, in general, will and won’t provide you with the following:

Desired Feature Whole Genome Testing
Mitochondrial DNA Presumed full haplogroup and mutations provided, but no ability for comparison to other testers. Upload to Family Tree DNA, the only vendor doing comparisons not available.
Y DNA Presume Y chromosome mostly covered, but limited ability for comparison to other testers for either SNPs or STRs. Must utilize either YFull or FGS for SNP/STR analysis. Upload to Family Tree DNA, the vendor with the largest data base not available when testing elsewhere.
Autosomal DNA for genealogy Presume all SNPs covered, but file output needs to be reduced to SNPs offered/processed by vendors accepting transfers (Family Tree DNA, MyHeritage, GedMatch) and converted to their file formats. Modified files may not be accepted in the future.
Medical (consumer interest) Accuracy is a factor of targeted coverage rate and depth of actual reads. Whole genome vendors may or may not provide any analysis or reports. Dante does but for limited number of conditions. Promethease accepts VCF files from vendors and provides more.
Medical (physician accepted) Physician is likely to order a medical genetics test through their own institution. Physicians may not be willing to risk a misdiagnosis due to a factor outside of their control such as an incompatible human genome version.
Files VCF, FASTQ and BAM may or may not be included with results, and may or may not be free.
Coverage Coverage and depth may or may not be adequate. Multiple extractions (from multiple samples) may or may not be included with the initial purchase (if needed) or may be limited. Ask.
Updates Vendors who offer sequencing as a part of a products that include comparison to other testers will update your results version to the current reference version, such as hg38 and mitochondrial V17. Others do not, nor can they be expected to provide that service.
Version Inquire as to the human genome (hg) version or versions available to you, and which version(s) are acceptable to the third party vendors you wish to utilize. When the next version of the human genome is released, your file will no longer be compatible because WGS vendors are offering sequencing only, not results comparisons to databases for genealogy.
Ownership/Usage Who owns your sample? What will it be utilized for, other than the service you ordered, by whom and for what purposes? Will you we able to authorize or decline each usage?
Location Where geographically is your DNA actually being sequenced and stored? What happens to your actual DNA sample itself and the resulting files? This may not be the location where you return your swab kit.

The Question – Will I Order?

The bottom line is that if you are a genealogist, seeking genetic information for genealogical purposes, you’re much better off to test with the standard and well know genealogy vendors who offer compatibility and comparisons to other testers.

If you are a pioneer in this field, have the technical ability required to make use of a whole genome test and are willing to push the envelope, then perhaps whole genome sequencing is for you.

I am considering ordering the Dante Labs whole genome test out of simple curiosity and to upload to Promethease to determine if the whole genome test provides me with something potentially medically relevant (positive or negative) that autosomal and Exome testing did not.

I’m truly undecided. Somehow, I’m having trouble parting with the $199 plus $69 (hard drive delivery by request when ordering) plus shipping for this limited functionality. If I was a novice genetic genealogist or was not a technology expert, I would definitely NOT order this test for the reasons mentioned above.

A whole genome test is not in any way a genealogical replacement for a full sequence mitochondrial test, a Y STR test, a Y SNP test or an autosomal test along with respective comparison(s) in the data bases of vendors who don’t allow uploads for these various functions.

The simple fact that 30X whole genome testing is available for $199 plus $69 plus shipping is amazing, given that 15 years ago that same test cost 2.7 billion dollars. However, it’s still not the magic bullet for genealogy – at least, not yet.

Today, the necessary integration simply doesn’t exist. You pay the genealogy vendors not just for the basic sequencing, but for the additional matching and maintenance of their data bases, not to mention the upgrading of your sequence as needed over time.

If I had to choose between spending the money for the WGS test or taking the genealogy tests, hands down, I’d take the genealogy tests because of the comparisons available. Comparison and collaboration is absolutely crucial for genealogy. A raw data file buys me nothing genealogically.

If I had not previously taken an Exome test, I would order this test in order to obtain the free Dante Health and Wellness Report which provides limited reporting and to upload my raw data file to Promethease. The price is certainly right.

However, keep in mind that once you view health information, you cannot un-see it, so be sure you do really want to know.

What do you plan to do? Are you going to order a whole genome test?

______________________________________________________________

Disclosure

I receive a small contribution when you click on some (but not all) of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Promethease Is Free Until the End of 2017

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And not only is Promethease free until the end of the year, if you upload your data now, you’ll have access to updated reports for perpetuity. So Promethease is free forever for people who take advantage of this opportunity before year end.

Promethease provides a very valuable service for people who have taken autosomal DNA tests and want to obtain information about mutations that may (or may not) have medical consequences, both positive and negative.

I’ve written about Promethease before, using my own results, here and I used the Promethease site for an analysis here. While the second article isn’t specifically about Promethease, it gives you an idea about how you might utilize your own results and why Promethease is seeking to improve the user’s results, especially when multiple vendors are involved. 

I use and enjoy Promethease, but it isn’t for everyone. Promethease provides information about health and traits, along with citations to the medical literature in SNPedia from which that information was derived. If you are inclined to worry or have anxiety, Promethease and testing for medical genetic information might not be for you.

However, if you do want to know, Promethease is a wonderful tool. Remember, having a mutation does NOT mean you will develop a disease or have the specific trait.  Many times, multiple mutations combine to produce a specific effect, not to mention environmental factors, epigenetics and things we don’t yet understand come into play.

Keep in mind that published literature doesn’t always agree, and that we are still in the infancy of the genetic revolution. In other words, we learn every single day and sometimes what we thought we knew was wrong.  Other times, the information is accurate, prompting us perhaps to be vigilant or alert our physicians to possibilities they should be aware of.

I want to know. I feel that knowledge empowers.  Not everyone agrees or wants to know, and that’s just fine.

I recently received the following e-mail from Promethease:

As someone who has purchased Promethease reports before, we thought you’d be interested in a new opportunity to get up-to-date reports for free.

In the past, we always deleted your raw data within 24 hours. That meant you had to re-upload (and pay again) for every updated report. We now have improved infrastructure in place that allows you to upload your data once and then generate updated reports free of charge, whenever you want.

We added this infrastructure so we could use de-identified stored data to better assess the accuracy of the raw data produced by different companies, platforms and technologies. This will also allow us to provide the best, independent assessment of true vs. false data in future Promethease reports and add new features.

As a Promethease user you’re probably familiar with the value of getting updated reports from time to time. SNPedia’s content, upon which Promethease reports are based, doubles almost every year, and Promethease’s interface is always improving to enable better searching, filtering and exporting options.

To support this new capability, we are now allowing free data uploads until December 31, as a holiday gift to our users. We invite you to re-upload DNA data for free now and receive a new report. You will be able to generate updated reports in the future without uploading or paying. To take advantage of this opportunity follow the simple steps below:

  1. Go to https://www.promethease.com
  2. Check all the checkboxes and click “I agree”
  3. Click “Upload raw data” or “Import” it again.
  4. When prompted, click the “Get free report” button.
  5. If you want to get free updates in the future, enable the storage option which allows us to save your data and generate updated reports for you.
  6. Pick a password for your account.
  7. Wait about 5 minutes to receive your first report.

From then on, you’ll be able to visit Promethease.com whenever you want, login to your account, and generate up-to-date reports for free. You can also delete your stored DNA data from the same page, at any time.

It’s as easy as that.

Get started at https://www.promethease.com

Have more questions? Check out the FAQs.

Sincerely,

Mike Cariaso & Greg Lennon

Personally, I’m very pleased with this development which provides Promethease the ability to analyze and evaluate what the vendors are doing well, and not so well.  In other words, are there areas of DNA that are prone to misreporting or inconsistencies on specific chips?  Should Promethease provide additional cautions for those regions?  If Promethease doesn’t have your permission to utilize your DNA for analysis, they can never answer those questions with the confidence generated by having compared thousands of DNA results over time. In the end, customers are the winner, because your results will be more accurate and relevant.

However, like all DNA related companies, be sure to read all of the information available before uploading so that you are clear and comfortable with what is being done with your DNA results.

Judy Russell also wrote about the new Promethease capability here.

I’ve worked with Promethease before, and I’ll certainly be uploading my information from every vendor where I’ve tested. Each vendor’s chip tests a somewhat different region.  I want updated information periodically and I certainly want Promethease to be able to improve their product and results for everyone.

Thank you Promethease!

______________________________________________________________

Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Imputation Analysis Utilizing Promethease

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We know in the genetics industry that imputation is either coming or already here for genetic genealogy. I recently wrote two articles, here and here, explaining imputation and its (apparent) effects on matching – or at least the differences between vendors who do and don’t utilize imputation on the segments that are set forth as matches.

I will be writing shortly about my experience utilizing DNA.Land, a vendor who encourages testers to upload their files to be shared with medical researchers. In return, DNA.Land provides matching information and ethnicity – but they do impute results that you don’t have based on“typical” DNA that is generally inherited with the DNA you do have.

Aside from my own curiosity and interest in health, I have been attempting to determine the relative accuracy of imputation.

Promethease is a third party site that provides consumers who upload their autosomal DNA files with published information about their SNPs, mutations, either bad, good or neither, meaning just information. This makes Promethease the perfect avenue for comparing the accuracy of the imputed data provided by DNA.Land compared against the data provided by Promethease generated from files from vendors who do not impute.

Even better, I can directly compare the autosomal file from Family Tree DNA that I uploaded to DNA.Land with my resulting DNA.Land file after DNA.Land imputed another 38 million locations. I can also compare the DNA.Land results to an extensive exome test that provided results for some 50 million locations.

Uploading all of the files from various testing vendors separately to Promethease allows me to see which of the mutations imputed by DNA.Land are accurate when compared to actual DNA tests, and if the imputed mutations are accurate when the same location was tested by any vendor.

In addition to the typical genetic genealogy vendors, I’ve also had my DNA exome sequenced, which includes the 50 million locations in humans most likely to mutate.  This means those locations should be the locations most likely to be imputed by DNA.Land.

Finally, at Promethease, I can combine my results from all the vendors where I actually tested to provide the greatest coverage of actually tested locations, and then compare to DNA.Land – providing the most comprehensive comparison.

I will utilize the testing vendors’ actual results to check the DNA.Land imputed results.

Let’s see what the results produce.

The Test Process

The method I used for this comparison was to upload my Family Tree DNA autosomal raw data file to DNA.Land. DNA.Land then took the 700,000+ locations that I did test for at Family Tree DNA, and imputed more than 38 million additional locations, raising my tested and imputed number of locations to about 39 million.

Then, I downloaded and uploaded my huge DNA.Land file, utilizing the Promethease instructions.

In order to do a comparison against the imputed data that DNA.Land provided, I uploaded files from the following vendors individually, one at a time, to Promethease to see which versions of the files provided which results – meaning which mutations the files produced by actual testing at vendors could confirm in the DNA.Land imputed results.

  • DNA.Land (imputed)
  • Genos – Exome testing of 50 million medically relevant locations
  • Ancestry V1 test
  • Ancestry V2 test
  • Family Tree DNA
  • 23andMe V3 test
  • 23andMe V4 test
  • Combined file of all non-imputed vendor files

Promethease provides a wonderful feature that enables users to combine multiple vendors’ files into one run. As a final test, I combined all of my non-imputed files into one run in order to compare all of my non-imputed results, together, with DNA.Land’s imputed results.

Promethease provides results that fall into 3 categories:

  • Bad – red
  • Good – green
  • Grey – “not set” – neither bad nor good, just information

Promethease does not provide diagnoses of any form, just information from the published literature about various mutations and genetic markers and what has been found in research, with links to the sources through SNPedia.

Results

I compiled the following chart with the results of each individual file, plus a combined file made up of all of the non-imputed files.

The results are quite interesting.

The combined run that included all of the vendors files except for DNA.Land provided more “bad” results than the imputed DNA.Land file. 

I expected that the Genos exome test would have covered all of the locations tested by the three genetic genealogy vendors, but clearly not, given that the combined run provides more results than the Genos exome run by itself. In fact, the total locations reported is 80,607 for the combined run and the Genos run alone was only 45,595.

DNA.Land only imputed 34,743 locations that returned results.

Comparison for Accuracy

Now, the question is whether the DNA.Land imputed results are accurate.

Due to the sheer number of results, I focused only on the “bad” results, the ones that would be most concerning, to get an idea of how many of the DNA.Land results were tested in the original uploaded file (from FTDNA) and how many were imputed. Of the imputed locations, I determined how many are accurate by comparing the DNA.Land results to the combined testing results. My hope, is, of course, that most of the locations found in the DNA.Land imputed file are also to be found in one of the files tested at the vendors, and therefore covered in the combined file run.

I combined my results from the following 3 runs into a common spreadsheet, color coding each result differently:

  • First, I wanted to see the locations reported as “bad” that were actually tested at FTDNA. By comparing the FTDNA locations with the DNA.Land imputed file, we know that DNA.Land was NOT imputing those locations, and conversely, that they WERE imputing the rest of the locations.
  • Second, I wanted to know if locations imputed by DNA.Land and reported as “bad” had been tested by any testing company, and if DNA.Land’s imputation was accurate as compared to an actual test.

You can read more about how Promethease reports results, here.

I’m showing two results in the spreadsheet example, below.

White row=FTDNA test result
Yellow row =DNA.Land result
Blue row=combined test result

These two examples show two mutations that are ranked as “bad” for the same condition. This result really only tells me that I metabolize some things slower than other people. Reading the fine print tells me this as well:

The proportion of slow and rapid metabolizers is known to differ between different ethnic populations. In general, the slow metabolizer phenotype is most prevalent (>80%) in Northern Africans and Scandinavians, and lowest (5%) in Canadian Eskimos and Japanese. Intermediate frequencies are seen in Chinese populations (around 20% slow metabolizers), whereas 40 – 60% of African-Americans and most non-Scandinavian Caucasians are slow metabolizers.[PMID 16416399]

Many of you are probably slow metabolizers too.

I used this example to illustrate that not everything that is “bad” is going to keep you awake at night.

The first mutation, gs140 is found in the DNA.Land file, but there is no corresponding white row, representing the original Family Tree DNA report, meaning that DNA.Land imputed the result. GS140 is, however, tested by some vendor in the combined file. The results do match (verified by actually comparing the results individually) and therefore, the DNA.Land imputation was accurate as noted in the DNA.Land Analysis column at far right.

In the second example, gs154 is reported by DNA.Land, but since it’s also reported by Family Tree DNA in the white row, we know that this value was NOT imputed by DNA.Land, because this was part of the originally uploaded file. Therefore, in the Analysis column, I labeled this result as “tested at FTDNA.”

Analysis

I analyzed each of the rows of “bad” results found in the DNA.Land file by comparing them first to the FTDNA file and then the Combined file. In some cases, I needed to return to the various vendor results to see which vendor had done the testing on a specific location in order to verify the result from the individual run.

So, how did DNA.Land do with imputing data as compared with actual tested results?

# Results % Comment
Tested, not Imputed 171 38.6 This “bad” location was tested at FTDNA and uploaded, so we know it was reported accurately at DNA.Land and not imputed.
Total Imputed* 272 61.4 Meaning total of “bad” results not tested at FTDNA, so not uploaded to DNA.Land, therefore imputed.
Imputed Correctly 259 95.22 This result was verified to match a tested location in the combined run.
Imputed, but not tested elsewhere 6 2.21 Accuracy cannot be confirmed.
Conflict 3 1.10 DNA.Land results cannot be verified due to an error of some sort – two of these three are probably accurate.
Imputed Incorrectly 4 1.47 Confirmed by the combined run where the location was actually tested at multiple vendor(s).
Not reported, and should have been 1 0.37 4 other vendor tests showed this mutation, including FTDNA which was uploaded to DNA.Land. Therefore these locations should have been reported by the DNA.Land file.

*The total number of “bad” results was 443, 171 that were tested and 272 that were imputed. Note that the percentages of imputations shown below the “Total Imputed” number of 272 are calculated based on the number of locations imputed, not on the total number of locations reported.

Concerns, Conflicts and Errors

It’s worth noting that my highest imputed “bad” risk from DNA.Land was not tested elsewhere, so cannot be verified, which concerns me.

On the three results where a conflict exists, all 3 locations were tested at multiple other vendors, and the results at the other vendors where the results were actually tested show different results from each other, which means that the DNA.Land result cannot be verified as accurate. Clearly, an error exists in at least one of the other tests.

In one conflict case, this error has occurred at 23andMe on either their V3 or V4 chip, where the results do not match each other.

In a second conflict case, two of the other vendors agree and the DNA.Land imputation is likely accurate, as it matches 2 of the three other vendor tests.

In the third conflict case, the Ancestry V2 test confirms one of the 23andMe results, which matches the DNA.Land results, so the DNA.Land result is likely accurate.

Of the 4 results that were confirmed to be imputed incorrectly, all locations were tested at multiple vendors. In two cases, the location was confirmed on two other tests and in the other two cases, the location was tested at three vendors. The testing vendor’s results all matched each other.

Summary

Overall, given the problems found with both DNA.Land and MyHeritage, who both impute, relative to genetic genealogy matching, I was surprised to find that the DNA.Land imputed health results were relatively accurate.

I expected the locations reported in the FTDNA file to be reported accurately by DNA.Land, because that data was provided to them. In one case, it was not.

Of the 272 “bad” results imputed, 259, or 95.22% could be verified as accurate.

Six could not be verified, and three were in conflict, but of those, it’s likely that two of the three were imputed accurately by DNA.Land. The third can’t be verified. This totals 3.31% of the imputed results that are ambiguous.

Only 1.47% were imputed incorrectly. If you add the .37% for the location that was not reported and should have been, and make the leap of assumption that the one of three in conflict is in error, DNA.Land is still just over a 2% confirmed error rate.

I can see why Illumina would represent to the vendors that imputation technology is “very accurate.” “Very” of course is relative, pardon the pun, in genetic genealogy, to how well matching occurs, not only when the new GSA chip is compared to another GSA chip, but when the new GSA version is compared to the older OmniExpress version. For backards compatibility between the chip versions, imputation must be utilized. Thanks a lot Illumina (said in my teenage sarcastic voice).

Since DNA.Land accepts files from all the vendors on all chips, for DNA.Land to be able to compare all locations in all vendors’ files against each other, the “missing” data in each file must be imputed. MyHeritage is doing something similar (having hired one of the DNA.Land developers), and both vendors have problems with genetic genealogy matching.

This begs the question of why the matching is demonstrably so poor for genetic genealogy. I’ve written about this phenomenon here, Kitty Cooper wrote about it here and Leah Larkin here.

Based on this comparison, each individual DNA.Land imputed file would contain about a 2% error rate of incorrectly imputed data, assuming the error rate is the same across the entire file, so a combined total of 4% for two individuals, if you’re just looking at individual SNPs. Perhaps entire segments are being imputed incorrectly, given that we know that DNA is inherited in segments. If that is the case, and these individual SNPs are simply small parts of entire segments that are imputed incorrectly, they might account for an equal number of false positive matches. In other words, if 10 segments are imputed incorrectly for me, that’s 10 segments reporting false positive matches I’ll have when paired against anyone who receives the same imputed data. However, that doesn’t explain the matches that are legitimate (on tested segments) and aren’t found by the imputing vendors, and it doesn’t explain an erroneous match rate that appears to be significantly higher than the 2-4% per cent found in this comparison.

I’ll be writing about the DNA.Land matching comparison experience shortly.

I would strongly prefer that medical research be performed on fully tested individuals. I realize that the cost of encouraging consumers to upload their data, and then imputing additional information is much less expensive than actual testing. However, accuracy is an issue and a 2% error rare, if someone is dealing with life-saving and life-threatening research could be a huge margin of error, from the beginning of the project, based on faulty imputation – which could be eliminated by simply testing people. This seems like an unnecessary risk and faulty research just waiting to happen. This error rate is on top of the actual sequencing error rate, but sequencing errors will be found in different locations in individuals, not on the same imputed segment assigned to multiple people in population groups. Imputation errors could be cumulative in one location, appearing as a hot spot when in reality, it’s an imputation error.

As related to genetic genealogy, I don’t think imputation and genetic genealogy are good bedfellows. DNA.Land’s matching was even worse when it was initially introduced, which is one reason I’ve waited so long to upload and write about the service.

Unfortunately, with Illumina obsoleting the OmniExpress chip, we’re not going to have a choice, sooner than later. All vendors who utilized the OmniExpress chip are being forced off, either onto the GSA chip or to an Exome or full sequence chip. The cost of sequencing for anything other than the GSA chip is simply more than the genetic genealogy market will stand, not to mention even larger compatibility issues. My Genos Exome test cost $499 just a few months ago and still sells for that price today.

The good news is that utilizing imputation, we will still receive matches, just less accurate matches when comparing the new chip to older versions, and when using imputation.

New testers will never know the difference. Testers not paying close attention won’t notice or won’t realize either. That leaves the rest of us “old timers” who want increased accuracy and specification, not less, flapping in the wind along with the vendors who don’t sell our test results into the medical arena and have no reason to move to the new GSA platform other than Illumina obsoleting the OmniExpress chip.

Like I said, thanks Illumina.

______________________________________________________________

Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Promethease 2017

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For those who aren’t acquainted with Promethease, they are a service that provides a comprehensive “health” report based on autosomal DNA results uploaded from the major testing companies.  You receive an informational report about your genetic health risks and some traits as reported in numerous academic studies that are archived and categorized relative to genetic information.

Quoting Promethease, they say:

Promethease is a literature retrieval system that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia.

Please note that if you took the 23andMe test for health information, Promethease provides you with exponentially more information – and you can utilize your 23andMe file to obtain that information. If you tested at any of the other major vendors, you can utilize those reports as well, either separately or together.

I originally wrote about Promethease in December of 2013. At that time, I uploaded the files from various testing vendors to Promethease one by one and compared the results. Four years in this industry is forever, so I’m doing this again to share my results. There is a lot more information available from Promethease, and the testing vendors files have changed too.

This time, I’m uploading my Exome data, a very different DNA test than consumers receive at the typical genetic genealogy testing companies. You can read about this test in the article, Genos – A Medically Focused DNA Exome Test.

Keep in mind that even if you uploaded your autosomal file before and received results, Promethease adds new references as they become available, so your information from a couple years ago is out of date. The good news is that Promethease is very inexpensive, typically between $5 and $10.

What Does Promethease Do?

Promethease reports raw information, meaning that they do not massage or interpret this information for you. In other words, for a particular disease or trait, if there are 10 articles that report on that particular DNA location, based on your SNPs (one from Mom and one from Dad,) 2 information sources might indicate a possible increased risk, 5 might be neither good nor bad, and 3 might indicate a possible lower risk. Promethease shows you all 10, not distilling the 10 into a compilation or summary of your risk factors.

Promethease is NOT DIAGNOSTIC. Only a physician can diagnose complex illnesses correctly, incorporating genetic information.

I should note here that very few mutations are absolute, with a few notable exceptions like Huntington’s Chorea. In most cases, just because you have a specific mutation indicating an elevated risk, does NOT means you’ll ever get that disease. Other factors such as lifestyle, nutrition and environment are involved, as well as elements we don’t yet understand today.

Important

If you decide to submit your information to Promethease, it’s very important for you to understand and take the following points into consideration:

  • The DNA tests you are uploading are not medical tests. They do not test all possible locations. Furthermore, occasionally, tests run by different vendors produce different results at specific locations. Those differing results can and do produce conflicting information about traits or mutations associated with that location.
  • Testing errors occur.
  • Promethease results are not diagnostic, only informational.
  • If you are concerned about your health, either before or after testing, you should take the results and your concerns to your physician for interpretation in your particular situation. (I am not a doctor. This is common sense.)
  • The field of genetics, including medical genetics, is undergoing a steep learning curve. Very little is cast in concrete. Sometimes we learn that what we thought we knew previously was incorrect.
  • You cannot “unsee” what you will learn about your own genes and mutations. Be sure you really want to know before you participate in this type of learning.

Having said all of that, let me share some interesting information about my results with you.

My Results

I recently uploaded my Genos Exome test, which tests a LOT more locations than any of the typical genetic genealogy tests – 50 million as compared to less than 1 million in the typical genealogy autosomal tests. I utilized Genos results on purpose, after developing a DVT (deep vein thrombosis – a blood clot) in my leg after a fall and after a flight, both. I wanted to see if I carry any genetic propensity for developing DVTs, or if it had just been a combination of circumstantial factors other than genetics. I discovered that I don’t carry any known genetic predisposition to DVTs or other clotting issues. Neither did my parents, at least not that I know of.

Promethease returned a total of 45,595 locations with informational results of some type, meaning those locations had been found in medical or academic literature housed at SNPedia.

Of those locations, 41,766 were “good,” 104 were “bad,” and 3,725 were “not set” meaning neither good nor bad.

The great news is that you don’t need to read all of the results, but can search or see any results that are relevant for any particular word. So you can sort for “clot,” “thrombosis” or even something like “kidney” or “liver,” in addition to seeing and sorting information in various other ways.

Most everyone looks at their “bad” mutations first. Fortunately, most people don’t have many and often bad doesn’t really mean “bad,” simply a slight elevated risk.

The Process

When considering whether or not to utilize Promethease, you might want to take a look at the video provided on their main web page.

Of course, to proceed, you’ll need to actually READ the legal verbiage and click that you accept to proceed.

Please click on any image to enlarge.

Promethease said this, and I said this, but I want to say it again.

You may discover things that will worry you. You may find conflicting information about a trait or mutation. You cannot “unsee” this once you’ve seen it.

Vendor Upload Files

You can upload your results from any of the vendors, noted above, as well as see example reports. Occasionally when a vendor changes something in their file, or changes testing chips, there will be a delay while Promethease makes adaptations. As I write this today, Promethease is working to handle the 23andMe V5 chip which is the new Illumina GSA chip.

One VERY interesting feature is that you can upload your results from multiple vendors and Promethease will combine them to provide you with one report. This costs a little more – mine was $17.  If I didn’t taken the Exome test, I would have uploaded all of my other files for combination.

Actually, after I uploaded my Exome file and ran the results, I did upload the rest. I’ll be publishing an article shortly with the results of that comparison titled “Imputation Analysis Utilizing Promethease.”

I would NOT utilize files from vendors that impute DNA data and include imputed information in your download data file. Of the vendors listed, I know that today MyHeritage makes use of imputed data on their site, but only downloads your actual tested locations, so their file would be fine to use.

DNA.Land facilitates uploads from other vendors, then imputes additional results, allowing you to download the imputed data file. I would not suggest using this file.

At this link, Promethease discusses imputation and says that some results from imputed information will be unreliable. I would recommend AGAINST using the imputed data. You will have no idea which results are from your real test and from the imputed data, that isn’t actually yours.

If you choose to use an imputed file, I would suggest that you also separately run the same file that you uploaded to DNA.Land in order to see which of your report locations are real and which are imputed by comparing the results of the two separate runs.

Promethease provides information, shown below, about the various vendors and vendor files. Note that some are not accepted, and some are less reliable.

It’s interesting that the Family Tree DNA Big Y test is accepted in addition to their Family Finder autosomal test.

The Results

Processing takes about 20 minutes and you will receive an e-mail when processing is complete with a link to both view and download your report. Click “download” which provides a zip file. Results are only held on the Promethease website for 45 days unless you make a selection to retain your results on the website to enable future processing.

Promethease provides a nice tutorial, both via their video and onscreen as well.

Click the link in the e-mail to see your results.

Promethease results are color coded with red being a probable pathogenic result (meaning potentially concerning, or bad), green being a good or protective result and grey meaning not assigned as bad or good – just information.

In total, I had the following categories of results utilizing my Genos file:

  • Probably Pathogenic, red – 104
  • Not Set, grey – 3725
  • Protective, green – 41,766

Please note that while red equals bad, that’s a relative thing. For example, having a “bad” mutation that MAY elevate your risk to 1.2% from 1% isn’t really terribly concerning. Most of my “bad” mutations fall into this category, and may have good offsetting mutations for the same condition. So, no jumping to conclusions allowed and no panicking, please.

Here’s my first result. It’s grey.

Whew, I’m a female!

You can see that I have 45,595 results returned, 10 being shown on the screen and the rest of the 45,595 being held in reserve and visible by sorting any number of ways, including by key word in the search box shown top right above. Below, lots of other sort options.

Here’s an example of a “grey” result when I searched for “eye color.”

You can see that this genotype, or result, as described, influences eye color.  I carry the nucleotides G and G, noted beside the rs id, where an A is required for the propensity to blue or grey eyes.

From this information, we know that my children received a G from me, because that’s all I have to give them, but if they received an A from their father, their eyes could be blue or grey.

Caution

If you don’t want to know, and I mean really know about your medically connected mutations, don’t utilize Promethease.

If you are prone to anxiety or worry, this might not be for you. If you are a hypochondriac, for Heaven’s sake, don’t use Promethease.

If you do want to know, run Promethease occasionally, because new SNPs are being added to the data base regularly.

Be cautious about introducing this entire report into your medical record, especially given that the state of health care and pre-existing condition coverage is uncertain in the future in the US. However, be vigilant and inform your physician of anything that might be relevant to your conditions or treatment, or especially any variants that might help them diagnose a condition or tailor medications.

While I am providing an informational article about this product, I am not specifically recommending or suggesting that anyone utilize Promethease.  That is an individual decision that everyone needs to make personally after weighing all the factors listed above, plus any not mentioned.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

The Day My Ancestors (and Chocolate) Tried to Kill Me

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Yes, seriously.

I know it sounds like a tall tale, but it isn’t.  It’s a true story, I swear.  And less than a month old.

It was a trap.

A trap, I’m telling you – set by ancestors and baited with…chocolate.

If you’ve been reading my blog long, you’ll know that I’ve been involved in genealogical tourism since long before that term existed.

One of the things I dearly love to do is go back to where my ancestors lived, find their land, maybe their house, their church and understand their lives by immersion as best I can from the distance of time.

Earlier this month, I returned for my second trip to the Netherlands with Dutch genealogist, Yvette Hoitink.

Yvette replied to a comment I had made in an article on my blog about the hopelessness of my Dutch lines, back in August of 2012. Those lines were absolutely NOT hopeless, as I ‘ve come to discover through Yvette’s research, and I probably know more about these lines now than I do about many colonial lines. If you know how to work with Dutch records, know the language and history – the records in the Netherlands are fantastic. Of course, I can’t read the language, or the script, so Yvette is absolutely indispensable. Yes, I’ll share her. No, you can’t have her all to yourself😊 I’m permanently inked into her schedule.

Yvette had found absolutely amazing records, and items, and locations – enough to lure me back once again. And yes, you will hear about each and every one of these in my 52 Ancestors series, but today’s topic is, um, er, a bit different. It’s about a near death experience – literally.

The Island of Vlieland

On my second day in the Netherlands, we visited the island of Vlieland, about 30 miles off of the coast of the Netherlands in the North Sea.

Please note that you can click any image to enlarge.

You can see, on the map above, that Vlieland, outlined in red, is part of an island chain. Vlieland at one time used to be connected to its southern neighbor, Texel.

By zooming out, you can see evidence that this chain at one historic time connected to the part of Holland where Amsterdam is now located. Based on Amsterdam’s location, you can also see why any ship leaving Amsterdam for the new world had to slip between the islands of Texel and Vlieland.

Geography is so important, because in one of my ancestral lines, my ancestor died on the ship after leaving Amsterdam and was buried on the island of Texel. But I digress and will resume that story in the 52 Ancestor’s series. Take a moment to imagine how thrilled I was to be standing there, on Vlieland, looking at Texel – some 4000 miles from home.

Island Enchantment

I happen to have a penchant for islands, almost a primal magnetic draw. Always have, and maybe now I know why. I love the isolation and charm – and in this case, the fact that my ancestors lived on Vlieland back in the early 1600s. The closest port on the mainland was Harlingen, and sure enough, my ancestor married a merchant in Harlingen in 1665.  Seventy-seven years later, in 1742, her grandson had a daughter, whose birth Yvette found documented in the very most unusual birth record EVER – a silver inscribed birth spoon.

Just one picture – I can’t resist. Ok, maybe two.

Courtesy Yvette Hoitink

Yvette took this lovely photo of me looking dreamily at that birth spoon, as well as the photo below. The Fries Scheepvaart Museum where the spoon is housed was beyond helpful and had removed it from the case prior to our visit so I could hold it and “commune” up close and personal. I can’t even begin to describe this moment to you – connecting back in time to that lovely celebration. Perhaps Yvette’s photo describes it better than I ever could.

Courtesy Yvette Hoitink

Birth spoon of Geertje Gerrijts Heslinga, born 15 December 1742. Geertje’s great-grandmother, Janke Gerrits, was born and lived on the island of Vlieland, leaving the island to marry Teunis Foppes in Harlingen on March 18, 1665.  Photos and research courtesy Yvette Hoitink.

Island Life

If I have a bit of wanderlust in my soul, I’m blaming it on my ancestors. Mariners, people who lived on an island being swallowed by the sea – tell me those people didn’t have a “adventure” gene, if there is such a thing. They were clearly free spirits, in every sense of the word.

The island of Vlieland looks out into the expansive sea, a remote world of hope, opportunity and sometimes, death. Separated from the mainland in the horrible storm surge flood of December 14, 1287, on neither side of the island can you see the mainland, not even in the distance to the east. At night, the sky in the summer never darkens entirely. It’s on the same latitude with Newfoundland in Canada.

By Garli (talk) (Uploads) – Garli (talk) (Uploads), CC BY-SA 3.0, https://en.wikipedia.org/w/index.php?curid=40196314

Today, as then, accommodations exist for visitors. As ships arrived from near and far, Vlieland welcomed them. Ships and passengers had yet another day’s sailing to the mainland.

Only one village exists on the island, Oost-Vlieland (East Vlieland) as the little village of West Vlieland was swallowed by the sea in 1736. Today, a few mom and pop hotels dot the lovely, serene maritime landscape. Suffice it to say, Vlieland is off the beaten path, even in peak season. Let’s just say I couldn’t even find a touristy t-shirt saying Vlieland.

Life is different on Vlieland. This is the view from breakfast, across the deck.

The blanket? In case you get chilled from the ever-present sea breeze. Provided by the hotel restaurant, which is often filled with locals and not tourists.

In fact, there’s a stack of blankets on a chest near the restrooms just waiting for anyone who is chilly.

You can also find a bookcase with children’s games as well as board games and books for anyone to borrow or use while visiting.  The winters are probably very long on Vlieland.

The sparrow, eating my breakfast leftovers? People on Vlieland don’t worry about things like doors and screens, or birds. They exist in harmony with nature, including birds that come right in to eat with you. Yes, inside.

People in Holland are very laid back about things Americans are very up-tight about – and some vice-versa.  Cultures are so interesting.

I could barely wait to start the day, because we were going to walk down the very streets where my ancestor walked. Where she grew up.  Where her parents and sister lived as well.  I was going to walk in her footsteps.

The main street of town looks much like it did in the time my ancestor lived here. Even though we don’t (yet) know exactly which house they lived in, it was assuredly one of the houses in the village and likely still remains. We started at one end and walked to the other, past shops, houses, the town hall, the church and cemetery, of course.

In Europe, everyone walks or rides bicycles.  There just isn’t room for vehicles and many areas, especially historic regions, simply don’t allow them. No one feels inconvenienced or cares.

This house, built in 1662, was here when my ancestor, Janke, and her family walked this street.

Down the street, just a hair, we find the local bakery flying the white flag and seats in front for weary walkers, or excited eaters enjoying their delightful wares. Can you tell that I went inside?

Just take a look at their creative cookies. A joy to behold.

The entire bakery is full of wonderful delights.

Westers Bakery has the best, and I mean the very best, bar none, chocolate “thingy” in the world.

Thingy, you ask?

Well, I don’t know exactly what it is.

It’s kind of a cake brownie hybrid, dusted with more dark chocolate and maybe powdered sugar, that isn’t terribly sweet. Something like a brownie texturally, but not exactly. And it was nearly my doom.

This, you see, is where the trouble started. Well, actually in front of the bakery.

I initially bought one chocolate thingy, but one wasn’t enough, shared between the three of us, so I was going back for more. That’s when I fell into the trap.

See these things? They are called cobblestones and they are medieval torture devices with which our ancestors paved the streets, but today are used to lure unsuspecting descendants to their doom.

On my way hurrying back to the bakery, lured by the chocolate with which the trap had been cunningly set, I tripped on a cobblestone. Well, actually, it reached right up and grabbed the toe of my shoe, I’m sure. In any event, after a very undignified dance that I’m extremely grateful no one filmed, I decided that the best plan of attack, or descent, was to tuck and roll since it was obvious that I was going down.

My goal, at that moment, was temporarily distracted from chocolate to trying not to break any bones, hit my head or break my glasses.  Any one of which would have ruined the vacation entirely AND interfered with chocolate acquisition.

So, down I went, on the cobblestones. I hit pretty hard, since I had been nearly running as I tried to regain my balance. I found myself on the hard, uneven, cobblestones which were poking painfully into various body parts, taking a body part census one by one – “does it move? Is anything broken?,” to which, thankfully, the answer was “I can move it and it doesn’t seem to be broken.” But some parts hurt, a lot. Cobblestones are very unforgiving. Do not try this at home!

Then, of course, I had to attempt to regain my composure. It’s just so embarrassing to find yourself on the ground, stone cold sober.

As I lay there on the ground, still taking inventory of my various body parts, when my husband finally figured out I’d gone missing and came back to fetch me, I told him to go inside and buy that doggone chocolate, lest someone else purchase it and the bakery would run out! I mean, I didn’t sacrifice my dignity for nothing, after all!!!

Yes, I really did do that, and so did he. Here’s proof. He’s holding the white bag from the bakery.

My chocoholic friends will be proud.

I skinned my knee and I knew it would be bruised. I’ve been scuffed and bruised before. I used to be a mountain backpacker. I’ve even been sewed up by a guide on a raft on the Snake river using glacial melt riverwater as the only numbing agent available, plus a beer. So, I’m tough and I wasn’t going to let a little thing like a skinned knee put a damper on the trip.

So, I did what any person with Dutch mariner resolution running in their veins would have done. I got up, brushed myself off and kept on walking.

And because I’m either stubborn, or stupid, or both, here’s me about 5 minutes later having my photo taken with a goat statue in the street trying to pretend that nothing happened. Note the fact that I can’t bend the knee. I think the goat’s name was Lucifer and he was laughing at me, but I can’t be sure.

Guaranteed, I wasn’t smiling as much later, once reality (and swelling) set in.

Decisions

Yvette and I discussed options. There is no doctor on the island. The island folk, an extremely independent bunch, tell you that the doctor and the vet is one and the same person. I have no idea if they are kidding or not, but perseverance and time seemed like they would do the job and there was no need to displace Fido’s rabies shot with my knee non-emergency.

There is limited ferry service to the mainland, plus, we had a schedule and things to do.

The knee was painful, but didn’t seem to be “broken,” so there was no point disrupting our plans. I just limped and winced and carried on. That resilient, tenacious Dutch blood.

The River Cruise

As the days passed, the leg seemed to be getting worse, not better. I’ll spare you the pictures, but I began messaging with a person who works in medicine in the US. I was black and blue and swollen to my ankle and there was nothing I could do to get comfortable. I was tired because I couldn’t sleep well. Everything hurt.

By this time, Jim and I had embarked on a Viking River Cruise – and there is really no deviation from that schedule. The only option is to get left behind.

My medical resource in the states began to question whether I had a blood clot in the leg. Is there heat to the touch? Does it hurt? More questions. There was swelling and severe bruising, but no heat to the touch and no pain in just one place – it hurt everyplace. So, I thought the answer was no.

Things Turn Serious

My medical resource told me in no uncertain terms that the results of clots in the leg, if they break free, can be pulmonary embolisms, heart attacks and strokes – and are often fatal. Silent killers.

I’m not afraid of death, but I’m terrified of being disabled, an invalid, a stroke victim. I’ve seen that more times in my family than I care to recall.

However, it’s important to keep moving, so I walked up and down more cobblestone streets in small picturesque villages along the Rhine River. I even climbed rocks at a medieval castle. I kept moving, because I thought that’s what I should be doing.

I also got the opportunity to find three different pharmacies, in various countries that spoke little or no English.

Pharmacies in Europe only dispense drugs, not like general purpose stores here. And they aren’t open on weekends, evenings or holidays. Trying to find one on a walking tour of a medieval village during their “summer holiday” is a challenge, trust me.

Two days past the continental divide, in the wonderful medieval town of Passau, I found this lovely pharmacy, known there as an apotheke. And no, the pharmacist did not speak any English.

Even the pharmacy was located in a historic building, color coded on the outside as to the medieval function of the inhabitant, and complete with ceiling murals. You can see that this building had been an apothecary since at least 1589.

Insurance

My medical resource “encouraged me,” which is putting it mildly, to go have a doppler scan done of my leg for blood clots. I realized, about this time, that my insurance is not valid outside the US.

That is no anomaly – but the way much or most US insurance policies work.

Didn’t know that? Well, I never really thought about it either.

Just as an example, here’s Blue Cross’s web page about coverage outside of the US.

Notice that some policies cover emergency services, but what about admissions? And if your insurance policy doesn’t cover you, what does the local hospital do with you?

I just happen, by accident, to know that answer for the UK where their citizens and unfortunate visitors are all covered by socialized medicine, but outside of the UK, I have no idea. None, nada. And I wasn’t in the UK. By that time we were in Germany, Austria and Hungary.

You could easily go bankrupt with a hospital admission.

Not to mention the language barrier issue.

Believe me, I was in no hurry to discover the answer to any of these things first hand.

If you’re wondering about travel insurance, we did have a policy through Viking for that portion of our trip which covered cancellation for any reason.  For ocean-going ships, they agree to airlift you off of a boat, etc., a medical evacuation – but I had no clue about this type of problem on an inland river cruise.

Travel insurance also covers cancellation of a trip, but we were already on the trip when I discovered the magnitude of the problem.

In fact, by this time, we were within a week of leaving for home.  Surely I could just gut it out.

I was tired, tired of pain, tired of limping around, and tired of staying in my cabin with my leg elevated. I also contracted an upper respiratory infection, which normally would have been an annoyance, but when you’re already feeling crummy was sort of the last straw.

I was extremely glad to be coming home. Not exactly the way I had planned to spend or end the vacation of a lifetime visiting my ancestors’ homelands.

The Plane

Suffice it to say, I will never, ever, in my lifetime fly Air France again. As God is my witness.

I flew Delta from the US to the Netherlands and the Airbus had 6 seats across with one aisle. The same plane on the Air France trip back had 8 seats across with two aisles and people were packed in like sardines. Talk about one miserable flight. In addition, some piece of equipment was bolted to the floor in in my leg space, under the seat in front of me.

Did I mention that blood clots in the legs (DVTs or deep vein thrombosis) are nicknamed “economy class syndrome” and there is currently a lawsuit seeking to require the FAA to do something about “the incredible shrinking airline seat.” CNN Money reports that a group named:

Flyers Rights had said it’s concerned that small airline seats are actually a safety hazard, putting passengers at risk for conditions like deep vein thrombosis. That’s a potentially fatal condition that can cause blood clots in people’s legs.

Hmmm….you think???

The Clot

I arrived home late Saturday, and the leg was worse on Sunday. Not more painful, just more swelling, in the foot and ankle which had not been swollen before. By Monday morning, I was waiting on my doctor’s doorstep and later that morning, I was in the hospital. I spent a lovely day there, and yes indeed, I did have a clot in my leg.

Most of my life, I have never presented for diseases or health issues like anyone else. Sometimes unique is not a good thing, especially when your symptoms are different from the norm.

The location of the clot itself was not painful. The injury was in the front of my leg but the clot was in the back of the calf. The actual clot location was not red or swollen. But it was there, and life-threatening.

They told me, in absolutely no uncertain terms, as they started the blood thinners, that I was lucky to be alive and un-impaired – unless of course you consider my innate stubbornness as an impairment.

I learned that clots, once formed, take about 6 months to dissolve and reabsorb into your body – and the entire time you are a walking time bomb, hoping the clot doesn’t decide to break free and make a mad dash for someplace else in your body like a batter running for home plate.

I’m updating my will, just in case.

Who is at Risk?

Everyone is at risk for blood clots. Everyone needs to be able to clot so we don’t bleed to death from a hangnail.

If you sustain an injury, you are at risk for a clot leaving its source of origin, so be vigilant. Clots often form in legs, are known at DVTs (deep vein thrombosis), but not always. And people over 30 are at higher risk than younger people.

Risks include:

  • Sitting for extended periods, especially in cramped quarters
  • Crossing your legs
  • Wearing constrictive clothing from the waist down
  • Long car or plane trips
  • Oral contraceptives
  • Hormone replacement therapy
  • Smoking
  • Surgery
  • Age
  • Immobility
  • Dehydration
  • Caffeine

More than 400,000 Americans develop DVTs each year. Of those, when clots break loose and lodge in the lungs, more than one third of the people die, and those deaths exceed the number who die from AIDS and breast cancer, combined.

Certainly not a trivial problem.

Please see this article by WedMD about preventing clots during travel.

Air travel, in particular, increases the risk of clots. According to the American Association of Hematology, your risk of developing a blood clot during air travel is increased by the following:

  • Use of oral contraceptives
  • Pregnancy
  • Cancer
  • Recent surgery
  • Older age
  • Obesity
  • History of previous blood clots
  • Restrictive seats
  • Genetic predisposition to blood clots

Yes, your genes play a part here too.

Let’s take a look.

About the Genetics

At one time, on the V3 version of their product, before the FDA issue in November 2013, 23andMe reported on susceptibility for DVTs. In the V3 report, three genes were tested. People who tested under the V3 version can find their information about DVTs in their archived health reports. I had no increased susceptibility in either of the three genetic locations tested.

23andMe no longer provides information as detailed in the current version, but they do provide something in the V4 version.

People who tested more recently under the V4 platform, since November 2013, receive the results from two locations associated with clotting.

You’ll find this under “Reports, “ then “Genetic Health Risks” then “Hereditary Thrombophilia” where only two genes are tested and reported to consumers.

23andMe follows this information by stating, more than once, that this test is limited, does NOT test for all possible variants and that the variants are most commonly found in people of European descent.

They also emphatically state that other factors, such as lifestyle and environment can influence blood clotting, and that even if you don’t have the variant, you can still potentially develop clots. I’m the perfect example of that.

Interestingly, they state that about 1 in 20 people of European descent carry one of these genetic variants.

One in 20 is a LOT of people.

I wanted to know more.

Next, I utilized Promethease.com to see if I carried any additional known high risk clotting variants. I uploaded my Genos Exome file, because that test offers the greatest coverage of all the autosomal tests I’ve taken. However, you can upload autosomal raw data from tests at Family Tree DNA, Ancestry and/or 23andMe. Yes, that “and” was supposed to be in there. You can upload multiple files for Promethease to combine in order to provide you with the most comprehensive report possible. The cost is $5 for one file or up to $10 for multiple or large files. Very inexpensive.

One note, I don’t recommend that you use the imputed dna.land file, because imputed DNA is not your DNA, but presumed additional DNA based on what most people carry in various locations – added to your test.

I’ll be writing once again about Promethease shortly, but the answer is, no, I don’t have any high or increased risk variants in the 6 locations that Promethease reports on relative to clotting.

While this is somewhat of a relief, please do understand that medical discoveries continue to be made every single day, and it’s likely that there are clotting variants yet to be discovered.

If you have questions about the medical or genetic aspect of blood clots, DVTs and risk, especially related to flying, talk to your doctor. My physician provided me with some advice, but every person’s advice from their physician will differ based on their own individual circumstances that include variables such as age, medication and other diagnoses.

While the lack of known genetic clotting risk removes one worrisome factor, that doesn’t mean the risk from clots is removed, nor does an increased risk mean that one of those pesky clots will attack you.

What’s Next?

I’m going to be fine. I’m too darned stubborn for anything else. Plus, I’m following doctor’s orders. Yes, really.

There’s nothing to motivate compliance like knowing the grim reaper is eyeing you with unholy desire.

I’m still planning to go to Dublin in October (assuming the doctor says I can go) – and I will NOT be flying Air France, guaranteed. Furthermore, I will be upgrading to business class where I can easily stand up every hour and move freely.

In deference to my seatmates, I’ll be attempting to reserve an aisle seat.

I will also be getting a prescription pair of support hose to help prevent clots. BTW – support hose are NOT just for woman. Men, no one will know that you are wearing them except for the TSA agent when you get the lucky strip search.

Considerations

Why am I sharing this with you? I don’t want you to find yourself in a similar situation, so I’m compiling a list of travel considerations that everyone should think about and prepare for when they are planning an adventure, especially out of the country and particularly in a location where the native language is not English.

  • Car Insurance – is likely not valid outside of the US, including our neighboring Canada and Mexico. Check before leaving and see what you need to do if taking your vehicle out of the country. If you’re renting a car, your auto insurance (probably) won’t cover that either, so take the extra insurance offered at the car rental location.
  • Understand what documentation you will need to return to the US – and what you can and cannot bring across the border in either direction.
  • Health Insurance – is yours valid out of the country, and for what, where and under what circumstances?
  • Health Insurance – what steps do you need to take if a problem arises, and is there a 24-hour international 800 number?
  • What kind of health care do the places where you will be traveling have?
  • What happens to travelers with health emergencies in the locations where you will be traveling?
  • What kind of arrangements does your tour operator provide? For example, cruises at sea have an on-board ship’s doctor. On my river cruise, there wasn’t even aspirin, Tylenol or motion sickness medication available on board.
  • What will you do if you need to communicate with someone in another language? Note that iPhones have language translation apps.
  • If you are on an organized tour, what will happen to you should you and a travel companion have to leave the tour? Will you be able to catch up, and how? What kind of assistance will the travel company or tour operator provide you to rejoin the tour again?
  • Consider trip insurance that provides you with the ability to cancel the trip. Understand the provisions, meaning under what circumstances, and when, you can cancel.
  • Understand the provisions of your trip insurance for unexpected happenings during the trip – what is covered and what is not.
  • I don’t know that trip insurance is available for privately arranged flights and hotel stays – meaning those not made through cruise agencies and tour operators. I do know that I’ve since discovered that my hotel reservations made through booking.com and for my airfare booked through the airlines three months in advance for October are both nonrefundable/nontransferrable – even two months in advance. Situations like this make travel arrangements something you need to think twice about, and balance the need for booking early to procure rooms or a seat on the flight, versus waiting and not risking the entire amount of the flight and hotel reservation if something goes wrong between now and then. Makes optional travel much less appealing, doesn’t it.
  • Does your travel companion, if you have one, know your health history, prescriptions you are taking and diagnoses? If not, carry a one page document with you which could be translated into another language – including the phone number and name of your primary care physician.
  • If you have a health issue, does your travel companion’s travel insurance cover them during the time that they are accompanying you? Does yours? They won’t be admitted to a hospital, but will have to be staying unexpectedly in a hotel, in a location where they aren’t the least bit familiar.
  • When you fly, get up and walk every hour on the hour. Yes, seriously. It doesn’t matter how much you irritate your seat mates. Do butt squeezes (on yourself, not your seatmate) and move your legs.
  • Don’t drink alcohol or caffeine within 24 hours of your flight. Do drink water during the trip. Wear compression hose, but not ones that bind at the top of the hose.
  • Notify your credit card companies that you will be traveling, when and where to avoid issues when charging.  This is good advice traveling within the US too.
  • Check here for more tips.

If you think there is any possibility that you have a health issue, especially a blood clot – don’t wait. I was insanely lucky. I thought I was OK, but I wasn’t. My leg did not get better within the time it should have, and the leg swelled below the knee area where the injury was sustained. Clots are silent killers – lurking stealthily until they strike with vicious, disabling and often fatal results.

The Last Word

There’s something else extremely unique about the island of Vlieland.

Poetry.

And tire tracks.

Actually, poetry in tire tracks. Inscribed in the actual tire tread.

Special tires have been created to reflect the poetry of island poet, Gerda Posthumus.

You can find this poetry along the deserted beaches, on the “other side” of the protective dune.

This photo shows the poetry on the deserted beach, and the island of Texel in the distance where my ancestor is buried.

What an utterly beautiful and jaw dropping discovery.

Who expects to discover poetry in tire tracks on a deserted beach on an island 30 miles out to sea?

How prescient, with Texel in the distance.

The poem?

According to Yvette, it says:

What makes the deepest impression

Will be touched by the water.

Let no man disturb.

The sea will have the last word.

Yes, indeed, the sea.

Just ask my ancestor, buried on Texel.

Or my ancestors buried on Vlieland, perhaps in the part of the island consumed by the sea, where the original Anabaptist Mennonite community was located.

The sea, reaching across time immemorial – touching them, then, in death.

Touching my ancestor, in life, as Janke Gerrits rode on the ship to her new life on the mainland as a bride preparing to marry in 1665.

Three generations later her great-granddaughter’s birth was commemorated with that lovely silver spoon. In another four generations, her descendants climbed aboard a ship, once again, still as Mennonites, sailing on to America to begin a new life in Indiana.

And then, three more generations later, there’s me, yet alive, thankfully, having returned to find those ancestors who “reached out” to me in their own special way. Was it, perhaps, Janke Gerrits who was born on Vlieland who tripped me up, saying, “Hey, look, it’s me. I’m here. Right HERE.This house. Whoa! Stop!”  Oops.

Wouldn’t it be something if that toe-grabbing ancestor trap baited with chocolate thingys was in front of her house?

Time, with the help of Yvette, will tell.

______________________________________________________________

Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

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Which DNA Test is Best?

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If you’re reading this article, congratulations. You’re a savvy shopper and you’re doing some research before purchasing a DNA test. You’ve come to the right place.

The most common question I receive is asking which test is best to purchase. There is no one single best answer for everyone – it depends on your testing goals and your pocketbook.

Testing Goals

People who want to have their DNA tested have a goal in mind and seek results to utilize for their particular purpose. Today, in the Direct to Consumer (DTC) DNA market space, people have varied interests that fall into the general categories of genealogy and medical/health.

I’ve approached the question of “which test is best” by providing information grouped into testing goal categories.  I’ve compared the different vendors and tests from the perspective of someone who is looking to test for those purposes – and I’ve created separate sections of this article for each interest..

We will be discussing testing for:

  • Ethnicity – Who Am I? – Breakdown by Various World Regions
  • Adoption – Finding Missing Parents or Close Family
  • Genealogy – Cousin Matching and Ancestor Search/Verification
  • Medical/Health

We will be reviewing the following test types:

  • Autosomal
  • Y DNA (males only)
  • Mitochondrial DNA

I have included summary charts for each section, plus an additional chart for:

  • Additional Vendor Considerations

If you are looking to select one test, or have limited funds, or are looking to prioritize certain types of tests, you’ll want to read about each vendor, each type of test, and each testing goal category.

Each category reports information about the vendors and their products from a different perspective – and only you can decide which of these perspectives and features are most important to you.

You might want to read this short article for a quick overview of the 4 kinds of DNA used for genetic genealogy and DTC testing and how they differ.

The Big 3

Today, there are three major players in the DNA testing market, not in any particular order:

Each of these companies offers autosomal tests, but each vendor offers features that are unique. Family Tree DNA and 23andMe offer additional tests as well.

In addition to the Big 3, there are a couple of new kids on the block that I will mention where appropriate. There are also niche players for the more advanced genetic genealogist or serious researcher, and this article does not address advanced research.

In a nutshell, if you are serious genealogist, you will want to take all of the following tests to maximize your tools for solving genealogical puzzles. There is no one single test that does everything.

  • Full mitochondrial sequence that informs you about your matrilineal line (only) at Family Tree DNA. This test currently costs $199.
  • Y DNA test (for males only) that informs you about your direct paternal (surname) line (only) at Family Tree DNA. This test begins at $169 for 37 markers.
  • Family Finder, an autosomal test that provides ethnicity estimates and cousin matching at Family Tree DNA. This test currently costs $89.
  • AncestryDNA, an autosomal test at Ancestry.com that provides ethnicity estimates and cousin matching. (Do not confuse this test with Ancestry by DNA, which is not the same test and does not provide the same features.) This test currently costs $99, plus the additional cost of a subscription for full feature access. You can test without a subscription, but nonsubscribers can’t access all of the test result features provided to Ancestry subscribers.
  • 23andMe Ancestry Service test, an autosomal test that provides ethnicity estimates and cousin matching. The genealogy version of this test costs $99, the medical+genealogy version costs $199.

A Word About Third Party Tools

A number of third party tools exist, such as GedMatch and DNAGedcom.com, and while these tools are quite useful after testing, these vendors don’t provide tests. In order to use these sites, you must first take an autosomal DNA test from a testing vendor. This article focuses on selecting your DNA testing vendor based on your testing goals.

Let’s get started!

Ethnicity

Many people are drawn to DNA testing through commercials that promise to ‘tell you who you are.” While the allure is exciting, the reality is somewhat different.

Each of the major three vendors provide an ethnicity estimate based on your autosomal DNA test, and each of the three vendors will provide you with a different result.

Yep, same person, different ethnicity breakdowns.

Hopefully, the outcomes will be very similar, but that’s certainly not always the case. However, many people take one test and believe those results wholeheartedly. Please don’t. You may want to read Concepts – Calculating Ethnicity Percentages to see how varied my own ethnicity reports are at various vendors as compared to my known genealogy.

The technology for understanding “ethnicity” from a genetic perspective is still very new. Your ethnicity estimate is based on reference populations from around the world – today. People and populations move, and have moved, for hundreds, thousands and tens of thousands of years. Written history only reaches back a fraction of that time, so the estimates provided to people today are not exact.

That isn’t to criticize any individual vendor. View each vendor’s results not as gospel, but as their opinion based on their reference populations and their internal proprietary algorithm of utilizing those reference populations to produce your ethnicity results.

To read more about how ethnicity testing works, and why your results may vary between vendors or not be what you expected, click here.

I don’t want to discourage anyone from testing, only to be sure consumers understand the context of what they will be receiving. Generally speaking, these results are accurate at the continental level, and less accurate within continents, such as European regional breakdowns.

All three testing companies provide additional features or tools, in addition to your ethnicity estimates, that are relevant to ethnicity or population groups.

Let’s look at each company separately.

Ethnicity – Family Tree DNA

Family Tree DNA’s ethnicity tool is called myOrigins and provides three features or tools in addition to the actual ethnicity estimate and associated ethnicity map.

Please note that throughout this article you can click on any image to enlarge.

On the myOrigins ethnicity map page, above, your ethnicity percentages and map are shown, along with two additional features.

The Shared Origins box to the left shows the matching ethnic components of people on your DNA match list. This is particularly useful if you are trying to discover, for example, where a particular minority admixture comes from in your lineage. You can select different match types, for example, immediate relatives or X chromosome matches, which have special inheritance qualities.

Clicking on the apricot (mitochondrial DNA) and green (Y DNA) pins in the lower right corner drops the pins in the locations on your map of the most distant ancestral Y and mitochondrial DNA locations of the individuals in the group you have selected in the Shared Origins match box. You may or may not match these individuals on the Y or mtDNA lines, but families tend to migrate in groups, so match hints of any kind are important.

A third unique feature provided by Family Tree DNA is Ancient Origins, a tool released with little fanfare in November 2016.

Ancient Origins shows the ancient source of your European DNA, based on genome sequencing of ancient DNA from the locations shown on the map.

Additionally, Family Tree DNA hosts an Ancient DNA project where they have facilitated the upload of the ancient genomes so that customers today can determine if they match these ancient individuals.

Kits included in the Ancient DNA project are shown in the chart below, along with their age and burial location. Some have matches today, and some of these samples are included on the Ancient Origins map.

Individual Approx. Age Burial Location Matches Ancient Origins Map
Clovis Anzick 12,500 Montana (US) Yes No
Linearbandkeramik 7,500 Stuttgart, Germany Yes Yes
Loschbour 8,000 Luxembourg Yes Yes
Palaeo-Eskimo 4,000 Greenland No No
Altai Neanderthal 50,000 Altai No No
Denisova 30,000 Siberia No No
Hinxton-4 2,000 Cambridgeshire, UK No No
BR2 3,200 Hungary Yes Yes
Ust’-Ishim 45,000 Siberia Yes No
NE1 7,500 Hungary Yes Yes

Ethnicity – Ancestry

In addition to your ethnicity estimate, Ancestry also provides a feature called Genetic Communities.

Your ethnicity estimate provides percentages of DNA found in regions shown on the map by fully colored shapes – green in Europe in the example above. Genetic Communities show how your DNA clusters with other people in specific regions of the world – shown with dotted clusters in the US in this example.

In my case, my ethnicity at Ancestry shows my European roots, illustrated by the green highlighted areas, and my two Genetic Communities are shown by yellow and red dotted regions in the United States.

My assigned Genetic Communities indicate that my DNA clusters with other people whose ancestors lived in two regions; The Lower Midwest and Virginia as well as the Alleghenies and Northeast Indiana.

Testers can then view their DNA matches within that community, as well as a group of surnames common within that community.

The Genetic Communities provided for me are accurate, but don’t expect all of your genealogical regions to be represented in Genetic Communities. For example, my DNA is 25% German, and I don’t have any German communities today, although ancestry will be adding new Genetic Communities as new clusters are formed.

You can read more about Genetic Communities here and here.

Ethnicity – 23andMe

In addition to ethnicity percentage estimates, called Ancestry Composition, 23andMe offers the ability to compare your Ancestry Composition against that of your parent to see which portions of your ethnicity you inherited from each parent, although there are problems with this tool incorrectly assigning parental segments.

Additionally, 23andMe paints your chromosome segments with your ethnic heritage, as shown below.

You can see that my yellow Native American segments appear on chromosomes 1 and 2.

In January 2017, 23andMe introduced their Ancestry Timeline, which I find to be extremely misleading and inaccurate. On my timeline, shown below, they estimate that my most recent British and Irish ancestor was found in my tree between 1900 and 1930 while in reality my most recent British/Irish individual found in my tree was born in England in 1759.

I do not view 23andMe’s Ancestry Timeline as a benefit to the genealogist, having found that it causes people to draw very misleading conclusions, even to the point of questioning their parentage based on the results. I wrote about their Ancestry Timeline here.

Ethnicity Summary

All three vendors provide both ethnicity percentage estimates and maps. All three vendors provide additional tools and features relevant to ethnicity. Vendors also provide matching to other people which may or may not be of interest to people who test only for ethnicity. “Who you are” only begins with ethnicity estimates.

DNA test costs are similar, although the Family Tree DNA test is less at $89. All three vendors have sales from time to time.

Ethnicity Vendor Summary Chart

Ethnicity testing is an autosomal DNA test and is available for both males and females.

Family Tree DNA Ancestry 23andMe
Ethnicity Test Included with $89 Family Finder test Included with $99 Ancestry DNA test Included with $99 Ancestry Service
Percentages and Maps Yes Yes Yes
Shared Ethnicity with Matches Yes No Yes
Additional Feature Y and mtDNA mapping of ethnicity matches Genetic Communities Ethnicity phasing against parent (has issues)
Additional Feature Ancient Origins Ethnicity mapping by chromosome
Additional Feature Ancient DNA Project Ancestry Timeline

 

Adoption and Parental Identity

DNA testing is extremely popular among adoptees and others in search of missing parents and grandparents.

The techniques used for adoption and parental search are somewhat different than those used for more traditional genealogy, although non-adoptees may wish to continue to read this section because many of the features that are important to adoptees are important to other testers as well.

Adoptees often utilize autosomal DNA somewhat differently than traditional genealogists by using a technique called mirror trees. In essence, the adoptee utilizes the trees posted online of their closest DNA matches to search for common family lines within those trees. The common family lines will eventually lead to the individuals within those common trees that are candidates to be the parents of the searcher.

Here’s a simplified hypothetical example of my tree and a first cousin adoptee match.

The adoptee matches me at a first cousin level, meaning that we share at least one common grandparent – but which one? Looking at other people the adoptee matches, or the adoptee and I both match, we find Edith Lore (or her ancestors) in the tree of multiple matches. Since Edith Lore is my grandmother, the adoptee is predicted to be my first cousin, and Edith Lore’s ancestors appear in the trees of our common matches – that tells us that Edith Lore is also the (probable) grandmother of the adoptee.

Looking at the possibilities for how Edith Lore can fit into the tree of me and the adoptee, as first cousins, we fine the following scenario.

Testing the known child of daughter Ferverda will then provide confirmation of this relationship if the known child proves to be a half sibling to the adoptee.

Therefore, close matches, the ability to contact matches and trees are very important to adoptees. I recommend that adoptees make contact with www.dnaadoption.com. The volunteers there specialize in adoptions and adoptees, provide search angels to help people and classes to teach adoptees how to utilize the techniques unique to adoption search such as building mirror trees.

For adoptees, the first rule is to test with all 3 major vendors plus MyHeritage. Family Tree DNA allows you to test with both 23andMe and Ancestry and subsequently transfer your results to Family Tree DNA, but I would strongly suggest adoptees test on the Family Tree DNA platform instead. Your match results from transferring to Family Tree DNA from other companies, except for MyHeritage, will be fewer and less reliable because both 23andMe and Ancestry utilize different chip technology.

For most genealogists, MyHeritage is not a player, as they have only recently entered the testing arena, have a very small data base, no tools and are having matching issues. I recently wrote about MyHeritage here. However, adoptees may want to test with MyHeritage, or upload your results to MyHeritage if you tested with Family Tree DNA, because your important puzzle-solving match just might have tested there and no place else. You can read about transfer kit compatibility and who accepts which vendors’ tests here.

Adoptees can benefit from ethnicity estimates at the continental level, meaning that regional (within continent) or minority ethnicity should be taken with a very large grain of salt. However, knowing that you have 25% Jewish heritage, for example, can be a very big clue to an adoptee’s search.

Another aspect of the adoptees search that can be relevant is the number of foreign testers. For many years, neither 23andMe, nor Ancestry tested substantially (or at all) outside the US. Family Tree DNA has always tested internationally and has a very strong Jewish data base component.

Not all vendors report X chromosome matches. The X chromosome is important to genetic genealogy, because it has a unique inheritance path. Men don’t inherit an X chromosome from their fathers. Therefore, if you match someone on the X chromosome, you know the relationship, for a male, must be from their mother’s side. For a female, the relationship must be from the mother or the father’s mother’s side. You can read more about X chromosome matching here.

Neither Ancestry nor MyHeritage have chromosome browsers which allow you to view the segments of DNA on which you match other individuals, which includes the X chromosome.

Adoptee Y and Mitochondrial Testing

In addition to autosomal DNA testing, adoptees will want to test their Y DNA (males only) and mitochondrial DNA.

These tests are different from autosomal DNA which tests the DNA you receive from all of your ancestors. Y and mitochondrial DNA focus on only one specific line, respectively. Y DNA is inherited by men from their fathers and the Y chromosome is passed from father to son from time immemorial. Therefore, testing the Y chromosome provides us with the ability to match to current people as well as to use the Y chromosome as a tool to look far back in time. Adoptees tend to be most interested in matching current people, at least initially.

Working with male adoptees, I have a found that about 30% of the time a male will match strongly to a particular surname, especially at higher marker levels. That isn’t always true, but adoptees will never know if they don’t test. An adoptee’s match list is shown at 111 markers, below.

Furthermore, utilizing the Y and mitochondrial DNA test in conjunction with autosomal DNA matching at Family Tree DNA helps narrows possible relatives. The Advanced Matching feature allows you to see who you match on both the Y (or mitochondrial) DNA lines AND the autosomal test, in combination.

Mitochondrial DNA tests the matrilineal line only, as women pass their mitochondrial DNA to all of their children, but only females pass it on. Family Tree DNA provides matching and advanced combination matching/searching for mitochondrial DNA as well as Y DNA. Both genders of children carry their mother’s mitochondrial DNA. Unfortunately, mitochondrial DNA is more difficult to work with because of the surname changes in each generation, but you cannot be descended from a woman, or her direct matrilineal ancestors if you don’t substantially match her mitochondrial DNA.

Some vendors state that you receive mitochondrial DNA with your autosomal results, which is only partly accurate. At 23andMe, you receive a haplogroup but no detailed results and no matching. 23andMe does not test the entire mitochondria and therefore cannot provide either advanced haplogroup placement nor Y or mitochondrial DNA matching between testers.

For additional details on the Y and Mitochondrial DNA tests themselves and what you receive, please see the Genealogy – Y and Mitochondrial DNA section.

Adoption Summary

Adoptees should test with all 4 vendors plus Y and mitochondrial DNA testing.

  • Ancestry – due to their extensive data base size and trees
  • Family Tree DNA – due to their advanced tools, chromosome browser, Y and mitochondrial DNA tests (Ancestry and 23andMe participants can transfer autosomal raw data files and see matches for free, but advanced tools require either an unlock fee or a test on the Family Tree DNA platform)
  • 23andMe – no trees and many people don’t participate in sharing genetic information
  • MyHeritage – new kid on the block, working through what is hoped are startup issues
  • All adoptees should take the full mitochondrial sequence test.
  • Male adoptees should take the 111 marker Y DNA test, although you can start with 37 or 67 markers and upgrade later.
  • Y and mitochondrial tests are only available at Family Tree DNA.

Adoptee Vendor Feature Summary Chart

Family Tree DNA Ancestry 23andMe MyHeritage
Autosomal DNA – Males and Females
Matching Yes Yes Yes Yes – problems
Relationship Estimates* Yes – May be too close Yes – May be too distant Yes – Matches may not be sharing Yes –  problematic
International Reach Very strong Not strong but growing Not strong Small but subscriber base is European focused
Trees Yes Yes No Yes
Tree Quantity 54% have trees, 46% no tree (of my first 100 matches) 56% have trees, 44% no tree or private (of my first 100 matches) No trees ~50% don’t have trees or are private (cannot discern private tree without clicking on every tree)
Data Base Size Large Largest Large – but not all opt in to matching Very small
My # of Matches on 4-23-2017 2,421 23,750 1,809 but only 1,114 are sharing 75
Subscription Required No No for partial, Yes for full functionality including access to matches’ trees, minimal subscription for $49 by calling Ancestry No No for partial, Yes for full functionality
Other Relevant Tools New Ancestor Discoveries
Autosomal DNA Issues Many testers don’t have trees Many testers don’t have trees Matching opt-in is problematic, no trees at all Matching issues, small data base size is problematic, many testers don’t have trees
Contact Methodology E-mail address provided to matches Internal message system – known delivery issues Internal message system Internal message system
X Chromosome Matching Yes No Yes No
Y-DNA – Males Only
Y DNA STR Test Yes- 37, 67, and 111 markers No No No
Y Haplogroup Yes as part of STR test plus additional testing available No Yes, basic level but no additional testing available, outdated haplogroups No
Y Matching Yes No No No
Advanced Matching Between Y and Autosomal Yes No No No
Mitochondrial DNA- Males and Females
Test Yes, partial and full sequence No No No
Mitochondrial DNA Haplogroup Yes, included in test No Yes, basic but full haplogroup not available, haplogroup several versions behind No
Advanced Matching Between Mitochondrial and Autosomal Yes No No No

Genealogy – Cousin Matching and Ancestor Search/Verification

People who want to take a DNA test to find cousins, to learn more about their genealogy, to verify their genealogy research or to search for unknown ancestors and break down brick walls will be interested in various types of testing

Test Type Who Can Test
Y DNA – direct paternal line Males only
Mitochondrial DNA – direct matrilineal line Males and Females
Autosomal – all lines Males and Females

Let’s begin with autosomal DNA testing for genealogy which tests your DNA inherited from all ancestral lines.

Aside from ethnicity, autosomal DNA testing provides matches to other people who have tested. A combination of trees, meaning their genealogy, and their chromosome segments are used to identify (through trees) and verify (through DNA segments) common ancestor(s) and then to assign a particular DNA segment(s) to that ancestor or ancestral couple. This process, called triangulation, then allows you to assign specific segments to particular ancestors, through segment matching among multiple people. You then know that when another individual matches you and those other people on the same segment, that the DNA comes from that same lineage. Triangulation is the only autosomal methodology to confirm ancestors who are not close relatives, beyond the past 2-3 generations or so.

All three vendors provide matching, but the tools they include and their user interfaces are quite different. 

Genealogy – Autosomal –  Family Tree DNA

Family Tree DNA entered DNA testing years before any of the others, initially with Y and mitochondrial DNA testing.

Because of the diversity of their products, their website is somewhat busier, but they do a good job of providing areas on the tester’s personal landing page for each of the products and within each product, a link for each feature or function.

For example, the Family Finder test is Family Tree DNA’s autosomal test. Within that product, tools provided are:

  • Matching
  • Chromosome Browser
  • Linked Relationships
  • myOrigins
  • Ancient Origins
  • Matrix
  • Advanced Matching

Unique autosomal tools provided by Family Tree DNA are:

  • Linked Relationships that allows you to connect individuals that you match to their location in your tree, indicating the proper relationship. Phased Family Matching uses these relationships within your tree to indicate which side of your tree other matches originate from.
  • Phased Family Matching shows which side of your tree, maternal, paternal or both, someone descends from, based on phased DNA matching between you and linked relationship matches as distant as third cousins. This allows Family Tree DNA to tell you whether matches are paternal (blue icon), maternal (red icon) or both (purple icon) without a parent’s DNA. This is one of the best autosomal tools at Family Tree DNA, shown below.

  • In Common With and Not In Common With features allow you to sort your matches in common with another individual a number of ways, or matches not in common with that individual.
  • Filtered downloads provide the downloading of chromosome data for your filtered match list.
  • Stackable filters and searches – for example, you can select paternal matches and then search for a particular surname or ancestral surname within the paternal matches.
  • Common ethnicity matching through myOrigins allows you to see selected groups of individuals who match you and share common ethnicities.
  • Y and mtDNA locations of autosomal matches are provided on your ethnicity map through myOrigins.
  • Advanced matching tool includes Y, mtDNA and autosomal in various combinations. Also includes matches within projects where the tester is a member as well as by partial surname.
  • The matrix tool allows the tester to enter multiple people that they match in order to see if those individuals also match each other. The matrix tool is, in combination with the in-common-with tool and the chromosome browser is a form of pseudo triangulation, but does not indicate that the individuals match on the same segment.

  • Chromosome browser with the ability to select different segment match thresholds to display when comparing 5 or fewer individuals to your results.
  • Projects to join which provide group interaction and allow individuals to match only within the project, if desired.

To read more about how to utilize the various autosomal tools at Family Tree DNA, with examples, click here.

Genealogy – Autosomal – Ancestry

Ancestry only offers autosomal DNA testing to their customers, so their page is simple and straightforward.

Ancestry is the only testing vendor (other than MyHeritage who is not included in this section) to require a subscription for full functionality, although if you call the Ancestry support line, a minimal subscription is available for $49. You can see your matches without a subscription, but you cannot see your matches trees or utilize other functions, so you will not be able to tell how you connect to your matches. Many genealogists have Ancestry subscriptions, so this is minimally problematic for most people.

However, if you don’t realize you need a subscription initially, the required annual subscription raises the effective cost of the test quite substantially. If you let your subscription lapse, you no longer have access to all DNA features. The cost of testing with Ancestry is the cost of the test plus the cost of a subscription if you aren’t already a subscriber.

This chart, from the Ancestry support center, provides details on which features are included for free and which are only available with a subscription.

Unique tools provided by Ancestry include:

  • Shared Ancestor Hints (green leaves) which indicate a match with whom you share a common ancestor in your tree connected to your DNA, allowing you to display the path of you and your match to the common ancestor. In order to take advantage of this feature, testers must link their tree to their DNA test. Otherwise, Ancestry can’t do tree matching.  As far as I’m concerned, this is the single most useful DNA tool at Ancestry. Subscription required.

  • DNA Circles, example below, are created when several people whose DNA matches also share a common ancestor. Subscription required.

  • New Ancestor Discoveries (NADs), which are similar to Circles, but are formed when you match people descended from a common ancestor, but don’t have that ancestor in your tree. The majority of the time, these NADs are incorrect and are, when dissected and the source can be determined, found to be something like the spouse of a sibling of your ancestor. I do not view NADs as a benefit, more like a wild goose chase, but for some people these could be useful so long as the individual understands that these are NOT definitely ancestors and only hints for research. Subscription required.
  • Ancestry uses a proprietary algorithm called Timber to strip DNA from you and your matches that they consider to be “too matchy,” with the idea that those segments are identical by population, meaning likely to be found in large numbers within a population group – making them meaningless for genealogy. The problem is that Timber results in the removal of valid segments, especially in endogamous groups like Acadian families. This function is unique to Ancestry, but many genealogists (me included) don’t consider Timber a benefit.
  • Genetic Communities shows you groups of individuals with whom your DNA clusters. The trees of cluster members are then examined by Ancestry to determine connections from which Genetic Communities are formed. You can filter your DNA match results by Genetic Community.

Genealogy – Autosomal – 23and Me

Unfortunately, the 23andMe website is not straightforward or intuitive. They have spent the majority of the past two years transitioning to a “New Experience” which has resulted in additional confusion and complications when matching between people on multiple different platforms. You can take a spin through the New Experience by clicking here.

23andMe requires people to opt-in to sharing, even after they have selected to participate in Ancestry Services (genealogy) testing, have opted-in previously and chosen to view their DNA Relatives. Users on the “New Experience” can then either share chromosome data and results with each other individually, meaning on a one by one basis, or globally by a one-time opt-in to “open sharing” with matches. If a user does not opt-in to both DNA Relatives and open sharing, sharing requests must be made individually to each match, and they must opt-in to share with each individual user. This complexity and confusion results in an approximate sharing rate of between 50 and 60%. One individual who religiously works their matches by requesting sharing now has a share rate of about 80% of their matches in the data base who HAVE initially selected to participate in DNA Relatives. You can read more about the 23andMe experience at this link.

Various genetic genealogy reports and tools are scattered between the Reports and Tools tabs, and within those, buried in non-intuitive locations. If you are going to utilize 23andMe for matching and genealogy, in addition to the above link, I recommend Kitty Cooper’s blogs about the new DNA Relatives here and on triangulation here. Print the articles, and use them as a guide while navigating the 23andMe site.

Note that some screens (the Tools, DNA Relatives, then DNA tab) on the site do not display/work correctly utilizing Internet Explorer, but do with Edge or other browsers.

The one genealogy feature unique to 23andMe is:

  • Triangulation at 23andMe allows you to select a specific match to compare your DNA against. Several pieces of information will be displayed, the last of which, scrolling to the bottom, is a list of your common relatives with the person you selected.

In the example below, I’ve selected to see the matches I match in common with known family member, Stacy Den (surnames have been obscured for privacy reasons.)  Please note that the Roberta V4 Estes kit is a second test that I took for comparison purposes when the new V4 version of 23andMe was released.  Just ignore that match, because, of course I match myself as a twin.

If an individual does not match both you and your selected match, they will not appear on this list.

In the “relatives in common” section, each person is listed with a “shared DNA” column. For a person to be shown on this “in common” list, you obviously do share DNA with these individuals and they also share with your match, but the “shared DNA” column goes one step further. This column indicates whether or not you and your match both share a common DNA segment with the “in common” person.

I know this is confusing, so I’ve created this chart to illustrate what will appear in the “Shared DNA” column of the individuals showing on the list of matches, above, shared between me and Stacy Den.

Clicking on “Share to see” sends Sarah a sharing request for her to allow you to see her segment matches.

Let’s look at an example with “yes” in the Shared DNA column.

Clicking on the “Yes” in the Shared DNA column of Debbie takes us to the chromosome browser which shows both your selected match, Stacy in my case, and Debbie, the person whose “yes” you clicked.

All three people, meaning me, Stacy and Debbie share a common DNA segment, shown below on chromosome 17.

What 23andMe does NOT say is that these people. Stacy and Debbie, also match each other, in addition to matching me, which means all three of us triangulate.

Because I manage Stacy’s kit at 23andMe, I can check to see if Debbie is on Stacy’s match list, and indeed, Debbie is on Stacy’s match list and Stacy does match both Debbie and me on chromosome 17 in exactly the same location shown above, proving unquestionably that the three of us all match each other and therefore triangulate on this segment. In our case, it’s easy to identify our common relative whose DNA all 3 of us share.

Genealogy – Autosomal Summary

While all 3 vendors offer matching, their interfaces and tools vary widely.

I would suggest that Ancestry is the least sophisticated and has worked hard to make their tools easy for the novice working with genetic genealogy. Their green leaf DNA+Tree Matching is their best feature, easy to use and important for the novice and experienced genealogist alike.  Now, if they just had that chromosome browser so we could see how we match those people.

Ancestry’s Circles, while a nice feature, encourage testers to believe that their DNA or relationship is confirmed by finding themselves in a Circle, which is not the case.

Circles can be formed as the result of misinformation in numerous trees. For example, if I were to inaccurately list Smith as the surname for one of my ancestor’s wives, I would find myself in a Circle for Barbara Smith, when in fact, there is absolutely no evidence whatsoever that her surname is Smith. Yet, people think that Barbara Smith is confirmed due to a Circle having been formed and finding themselves in Barbara Smith’s Circle. Copying incorrect trees equals the formation of incorrect Circles.

It’s also possible that I’m matching people on multiple lines and my DNA match to the people in any given Circle is through another common ancestor entirely.

A serious genealogist will test minimally at Ancestry and at Family Tree DNA, who provides a chromosome browser and other tools necessary to confirm relationships and shared DNA segments.

Family Tree DNA is more sophisticated, so consequently more complex to use.  They provide matching plus numerous other tools. The website and matching is certainly friendly for the novice, but to benefit fully, some experience or additional education is beneficial, not unlike traditional genealogy research itself. This is true not just for Family Tree DNA, but GedMatch and 23andMe who all three utilize chromosome browsers.

The user will want to understand what a chromosome browser is indicating about matching DNA segments, so some level of education makes life a lot easier. Fortunately, understanding chromosome browser matching is not complex. You can read an article about Match Groups and Triangulation here. I also have an entire series of Concepts articles, Family Tree DNA offers a webinar library, their Learning Center and other educational resources are available as well.

Family Tree DNA is the only vendor to provide Phased Family Matches, meaning that by connecting known relatives who have DNA tested to your tree, Family Tree DNA can then identify additional matches as maternal, paternal or both. This, in combination with pseudo-phasing are very powerful matching tools.

23andMe is the least friendly of the three companies, with several genetic genealogy unfriendly restrictions relative to matching, opt-ins, match limits and such. They have experienced problem after problem for years relative to genetic genealogy, which has always been a second-class citizen compared to their medical research, and not a priority.

23andMe has chosen to implement a business model where their customers must opt-in to share segment information with other individuals, either one by one or by opting into open sharing. Based on my match list, roughly 60% of my actual DNA matches have opted in to sharing.

Their customer base includes fewer serious genealogists and their customers often are not interested in genealogy at all.

Having said that, 23andMe is the only one of the three that provides actual triangulated matches for users on the New Experience and who have opted into sharing.

If I were entering the genetic genealogy testing space today, I would test my autosomal DNA at Ancestry and at Family Tree DNA, but I would probably not test at 23andMe. I would test both my Y DNA (if a male) and mitochondrial at Family Tree DNA.

Thank you to Kitty Cooper for assistance with parent/child matching and triangulation at 23andMe.

Genealogy Autosomal Vendor Feature Summary Chart

Family Tree DNA Ancestry 23andMe
Matching Yes Yes Yes – each person has to opt in for open sharing or authorize sharing individually, many don’t
Estimated Relationships Yes Yes Yes
Chromosome Browser Yes No – Large Issue Yes
Chromosome Browser Threshold Adjustment Yes No Chromosome Browser No
X Chromosome Matching Yes No Yes
Trees Yes Yes – subscription required so see matches’ trees No
Ability to upload Gedcom file Yes Yes No
Ability to search trees Yes Yes No
Subscription in addition to DNA test price No No for partial, Yes for full functionality, minimal subscription for $49 by calling Ancestry No
DNA + Ancestor in Tree Matches No Yes – Leaf Hints – subscription required – Best Feature No
Phased Parental Side Matching Yes – Best Feature No No
Parent Match Indicator Yes No Yes
Sort or Group by Parent Match Yes Yes Yes
In Common With Tool Yes Yes Yes
Not In Common With Tool Yes No No
Triangulated Matches No – pseudo with ICW, browser and matrix No Yes – Best Feature
Common Surnames Yes Yes – subscription required No
Ability to Link DNA Matches on Tree Yes No No
Matrix to show match grid between multiple matches Yes No No
Match Filter Tools Yes Minimal Some
Advanced Matching Tool Yes No No
Multiple Test Matching Tool Yes No multiple tests No multiple tests
Ethnicity Matching Yes No Yes
Projects Yes No No
Maximum # of Matches Restricted No No Yes – 2000 unless you are communicating with the individuals, then they are not removed from your match list
All Customers Participate Yes Yes, unless they don’t have a subscription No – between 50-60% opt-in
Accepts Transfers from Other Testing Companies Yes No No
Free Features with Transfer Matching, ICW, Matrix, Advanced Matching No transfers No transfers
Transfer Features Requiring Unlock $ Chromosome Browser, Ethnicity, Ancient Origins, Linked Relationships, Parentally Phased Matches No Transfers No transfers
Archives DNA for Later Testing Yes, 25 years No, no additional tests available No, no additional tests available
Additional Tool DNA Circles – subscription required
Additional Tool New Ancestor Discoveries – subscription required
Y DNA Not included in autosomal test but is additional test, detailed results including matching No Haplogroup only
Mitochondrial DNA Not included in autosomal test but is additional test, detailed results including matching No Haplogroup only
Advanced Testing Available Yes No No
Website Intuitive Yes, given their many tools Yes, very simple No
Data Base Size Large Largest Large but many do not test for genealogy, only test for health
Strengths Many tools, multiple types of tests, phased matching without parent DNA + Tree matching, size of data base Triangulation
Challenges Website episodically times out No chromosome browser or advanced tools Sharing is difficult to understand and many don’t, website is far from intuitive

 

Genealogy – Y and Mitochondrial DNA

Two indispensable tools for genetic genealogy that are often overlooked are Y and mitochondrial DNA.

The inheritance path for Y DNA is shown by the blue squares and the inheritance path for mitochondrial DNA is shown by the red circles for the male and female siblings shown at the bottom of the chart.

Y-DNA Testing for Males

Y DNA is inherited by males only, from their father. The Y chromosome makes males male. Women instead inherit an X chromosome from their father, which makes them female. Because the Y chromosome is not admixed with the DNA of the mother, the same Y chromosome has been passed down through time immemorial.

Given that the Y chromosome follows the typical surname path, Y DNA testing is very useful for confirming surname lineage to an expected direct paternal ancestor. In other words, an Estes male today should match, with perhaps a few mutations, to other descendants of Abraham Estes who was born in 1647 in Kent, England and immigrated to the colony of Virginia.

Furthermore, that same Y chromosome can look far back in time, thousands of years, to tell us where that English group of Estes men originated, before the advent of surnames and before the migration to England from continental Europe. I wrote about the Estes Y DNA here, so you can see an example of how Y DNA testing can be used.

Y DNA testing for matching and haplogroup identification, which indicates where in the world your ancestors were living within the past few hundred to few thousand years, is only available from Family Tree DNA. Testing can be purchased for either 37, 67 or 111 markers, with the higher marker numbers providing more granularity and specificity in matching.

Family Tree DNA provides three types of Y DNA tests.

  • STR (short tandem repeat) testing is the traditional Y DNA testing for males to match to each other in a genealogically relevant timeframe. These tests can be ordered in panels of 37, 67 or 111 markers and lower levels can be upgraded to higher levels at a later date. An accurate base haplogroup prediction is made from STR markers.
  • SNP (single nucleotide polymorphism) testing is a different type of testing that tests single locations for mutations in order to confirm and further refine haplogroups. Think of a haplogroup as a type of genetic clan, meaning that haplogroups are used to track migration of humans through time and geography, and are what is utilized to determine African, European, Asian or Native heritage in the direct paternal line. SNP tests are optional and can be ordered one at a time, in groups called panels for a particular haplogroup or a comprehensive research level Y DNA test called the Big Y can be ordered after STR testing.
  • The Big Y test is a research level test that scans the entire Y chromosome to determine the most refined haplogroup possible and to report any previously unknown mutations (SNPs) that may define further branches of the Y DNA tree. This is the technique used to expand the Y haplotree.

You can read more about haplogroups here and about the difference between STR markers and SNPs here, here and here.

Customers receive the following features and tools when they purchase a Y DNA test at Family Tree DNA or the Ancestry Services test at 23andMe. The 23andMe Y DNA information is included in their Ancestry Services test. The Family Tree DNA Y DNA information requires specific tests and is not included in the Family Finder test. You can click here to read about the difference in the technology between Y DNA testing at Family Tree DNA and at 23andMe. Ancestry is not included in this comparison because they provide no Y DNA related information.

Y DNA Vendor Feature Summary Chart

Family Tree DNA 23andMe
Varying levels of STR panel marker testing Yes, in panels of 37, 67 and 111 markers No
Test panel (STR) marker results Yes Not tested
Haplogroup assignment Yes – accurate estimate with STR panels, deeper testing available Yes –base haplogroup by scan – haplogroup designations are significantly out of date, no further testing available
SNP testing to further define haplogroup Yes – can purchase individual SNPs, by SNP panels or Big Y test No
Matching to other participants Yes No
Trees available for your matches Yes No
E-mail of matches provided Yes No
Calculator tool to estimate probability of generational distance between you and a match Yes No
Earliest known ancestor information Yes No
Projects Surname, haplogroup and geographic projects No
Ability to search Y matches Yes No Y matching
Ability to search matches within projects Yes No projects
Ability to search matches by partial surname Yes No
Haplotree and customer result location on tree Yes, detailed with every branch Yes, less detailed, subset
Terminal SNP used to determine haplogroup Yes Yes, small subset available
Haplogroup Map Migration map Heat map
Ancestral Origins – summary by ancestral location of others you match, by test level Yes No
Haplogroup Origins – match ancestral location summary by haplogroup, by test level Yes No
SNP map showing worldwide locations of any selected SNP Yes No
Matches map showing mapped locations of your matches most distant ancestor in the paternal line, by test panel Yes No
Big Y – full scan of Y chromosome for known and previously unknown mutations (SNPs) Yes No
Big Y matching Yes No
Big Y matching known SNPs Yes No
Big Y matching novel variants (unknown or yet unnamed SNPs) Yes No
Filter Big Y matches Yes No
Big Y results Yes No
Advanced matching for multiple test types Yes No
DNA is archived so additional tests or upgrades can be ordered at a later date Yes, 25 years No

Mitochondrial DNA Testing for Everyone

Mitochondrial DNA is contributed to both genders of children by mothers, but only the females pass it on. Like the Y chromosome, mitochondrial DNA is not admixed with the DNA of the other parent. Therefore, anyone can test for the mitochondrial DNA of their matrilineal line, meaning their mother’s mother’s mother’s lineage.

Matching can identify family lines as well as ancient lineage.

You receive the following features and tools when you purchase a mitochondrial DNA test from Family Tree DNA or the Ancestry Services test from 23andMe. The Family Tree DNA mitochondrial DNA information requires specific tests and is not included in the Family Finder test. The 23andMe mitochondrial information is provided with the Ancestry Services test. Ancestry is omitted from this comparison because they do not provide any mitochondrial information.

Mitochondrial DNA Vendor Feature Summary Chart

Family Tree DNA 23andMe
Varying levels of testing Yes, mtPlus and Full Sequence No
Test panel marker results Yes, in two formats, CRS and RSRS No
Rare mutations, missing and extra mutations, insertions and deletions reported Yes No
Haplogroup assignment Yes, most current version, Build 17 Yes, partial and out of date version
Matching to other participants Yes No
Trees of matches available to view Yes No
E-mail address provided to matches Yes No
Earliest known ancestor information Yes No
Projects Surname, haplogroup and geographic available No
Ability to search matches Yes No
Ability to search matches within project Yes No projects
Ability to search match by partial surname Yes No
Haplotree and customer location on tree No Yes
Mutations used to determine haplogroup provided Yes No
Haplogroup Map Migration map Heat map
Ancestral Origins – summary by ancestral location of others you match, by test level Yes No
Haplogroup Origins –match ancestral location summary by haplogroup Yes No
Matches map showing mapped locations of your matches most distant ancestor in the maternal line, by test level Yes No
Advanced matching for multiple test types Yes No
DNA is archived so additional tests or upgrades can be ordered at a later date Yes, 25 years No

 

Overall Genealogy Summary

Serious genealogists should test with at least two of the three major vendors, being Family Tree DNA and Ancestry, with 23andMe coming in as a distant third.

No genetic genealogy testing regimen is complete without Y and mitochondrial DNA for as many ancestral lines as you can find to test. You don’t know what you don’t know, and you’ll never know if you don’t test.

Unfortunately, many people, especially new testers, don’t know Y and mitochondrial DNA testing for genetic genealogy exists, or how it can help their genealogy research, which is extremely ironic since these were the first tests available, back in 2000.

You can read about finding Y and mitochondrial information for various family lines and ancestors and how to assemble a DNA Pedigree Chart here.

You can also take a look at my 52 Ancestors series, where I write about an ancestor every week. Each article includes some aspect of DNA testing and knowledge gained by a test or tests, DNA tool, or comparison. The DNA aspect of these articles focuses on how to use DNA as a tool to discover more about your ancestors.

Testing for Medical/Health or Traits

The DTC market also includes health and medical testing, although it’s not nearly as popular as genetic genealogy.

Health/medical testing is offered by 23andMe, who also offers autosomal DNA testing for genealogy.

Some people do want to know if they have genetic predispositions to medical conditions, and some do not. Some want to know if they have certain traits that aren’t genealogically relevant, but might be interesting – such as whether they carry the Warrior gene or if they have an alcohol flush reaction.

23andMe was the first company to dip their toes into the water of Direct to Consumer medical information, although they called it “health,” not medicine, at that time. Regardless of the terminology, information regarding Parkinson’s and Alzheimer’s, for example, were provided for customers. 23andMe attempted to take the raw data and provide the consumer with something approaching a middle of the road analysis, because sometimes the actual studies provide conflicting information that might not be readily understood by consumers.

The FDA took issue with 23andMe back in November of 2013 when they ordered 23andMe to discontinue the “health” aspect of their testing after 23andMe ignored several deadlines. In October 2015, 23andMe obtained permission to provide customers with some information, such as carrier status, for 36 genetic disorders.

Since that time, 23andMe has divided their product into two separate tests, with two separate prices. The genealogy only test called Ancestry Service can be purchased separately for $99, or the combined Health + Ancestry Service for $199.

If you are interested in seeing what the Health + Ancestry test provides, you can click here to view additional information.

However, there is a much easier and less expensive solution.

If you have taken the autosomal test from 23andMe, Ancestry or Family Tree DNA, you can download your raw data file from the vendor and upload to Promethease to obtain a much more in-depth report than is provided by 23andMe, and much less expensively – just $5.

I reviewed the Promethease service here. I found the Promethease reports to be very informative and I like the fact that they provide information, both positive and negative for each SNP (DNA location) reported. Promethease avoids FDA problems by not providing any interpretation or analysis, simply the data and references extracted from SNPedia for you to review.

I would be remiss if I didn’t mention that you should be sure you really want to know before you delve into medical testing. Some mutations are simply indications that you could develop a condition that you will never develop or that is not serious. Other mutations are not so benign. Promethease provides this candid page before you upload your data.

Different files from different vendors provide different results at Promethease, because those vendors test different SNP locations in your DNA. At the Promethease webpage, you can view examples.

Traits

Traits fall someplace between genealogy and health. When you take the Health + Ancestry test at 23andMe, you do receive information about various traits, as follows:

Of course, you’ll probably already know if you have several of these traits by just taking a look in the mirror, or in the case of male back hair, by asking your wife.

At Family Tree DNA, existing customers can order tests for Factoids (by clicking on the upgrade button), noted as curiosity tests for gene variants.

Family Tree DNA provides what I feel is a great summary and explanation of what the Factoids are testing on their order page:

“Factoids” are based on studies – some of which may be controversial – and results are not intended to diagnose disease or medical conditions, and do not serve the purpose of medical advice. They are offered exclusively for curiosity purposes, i.e. to see how your result compared with what the scientific papers say. Other genetic and environmental variables may also impact these same physiological characteristics. They are merely a conversational piece, or a “cocktail party” test, as we like to call it.”

Test Price Description
Alcohol Flush Reaction $19 A condition in which the body cannot break down ingested alcohol completely. Flushing, after consuming one or two alcoholic beverages, includes a range of symptoms: nausea, headaches, light-headedness, an increased pulse, occasional extreme drowsiness, and occasional skin swelling and itchiness. These unpleasant side effects often prevent further drinking that may lead to further inebriation, but the symptoms can lead to mistaken assumption that the people affected are more easily inebriated than others.
Avoidance of Errors $29 We are often angry at ourselves because we are unable to learn from certain experiences. Numerous times we have made the wrong decision and its consequences were unfavorable. But the cause does not lie only in our thinking. A mutation in a specific gene can also be responsible, because it can cause a smaller number of dopamine receptors. They are responsible for remembering our wrong choices, which in turn enables us to make better decisions when we encounter a similar situation.
Back Pain $39 Lumbar disc disease is the drying out of the spongy interior matrix of an intervertebral disc in the spine. Many physicians and patients use the term lumbar disc disease to encompass several different causes of back pain or sciatica. A study of Asian patients with lumbar disc disease showed that a mutation in the CILP gene increases the risk of back pain.
Bitter Taste Perception $29 There are several genes that are responsible for bitter taste perception – we test 3 of them. Different variations of this gene affect ability to detect bitter compounds. About 25% of people lack ability to detect these compounds due to gene mutations. Are you like them? Maybe you don’t like broccoli, because it tastes too bitter?
Caffeine Metabolism $19 According to the results of a case-control study reported in the March 8, 2006 issue of JAMA, coffee is the most widely consumed stimulant in the world, and caffeine consumption has been associated with increased risk for non-fatal myocardial infarction. Caffeine is primarily metabolized by the cytochrome P450 1A2 in the liver, accounting for 95% of metabolism. Carriers of the gene variant *1F allele are slow caffeine metabolizers, whereas individuals homozygous for the *1A/*1A genotype are rapid caffeine metabolizers.
Earwax Type $19 Whether your earwax is wet or dry is determined by a mutation in a single gene, which scientists have discovered. Wet earwax is believed to have uses in insect trapping, self-cleaning and prevention of dryness in the external auditory canal of the ear. It also produces an odor and causes sweating, which may play a role as a pheromone.
Freckling $19 Freckles can be found on anyone no matter what the background. However, having freckles is genetic and is related to the presence of the dominant melanocortin-1 receptor MC1R gene variant.
Longevity $49 Researchers at Harvard Medical School and UC Davis have discovered a few genes that extend lifespan, suggesting that the whole family of SIR2 genes is involved in controlling lifespan. The findings were reported July 28, 2005 in the advance online edition of Science.
Male Pattern Baldness $19 Researchers at McGill University, King’s College London and GlaxoSmithKline Inc. have identified two genetic variants in Caucasians that together produce an astounding sevenfold increase of the risk of male pattern baldness. Their results were published in the October 12, 2008 issue of the Journal of Nature Genetics.
Monoamine Oxidase A (Warrior Gene) $49.50 The Warrior Gene is a variant of the gene MAO-A on the X chromosome. Recent studies have linked the Warrior Gene to increased risk-taking and aggressive behavior. Whether in sports, business, or other activities, scientists found that individuals with the Warrior Gene variant were more likely to be combative than those with the normal MAO-A gene. However, human behavior is complex and influenced by many factors, including genetics and our environment. Individuals with the Warrior Gene are not necessarily more aggressive, but according to scientific studies, are more likely to be aggressive than those without the Warrior Gene variant. This test is available for both men and women, however, there is limited research about the Warrior Gene variant amongst females. Additional details about the Warrior Gene genetic variant of MAO-A can be found in Sabol et al, 1998.
Muscle Performance $29 A team of researchers, led by scientists at Dartmouth Medical School and Dartmouth College, have identified and tested a gene that dramatically alters both muscle metabolism and performance. The researchers say that this finding could someday lead to treatment of muscle diseases, including helping the elderly who suffer from muscle deterioration and improving muscle performance in endurance athletes.
Nicotine Dependence $19 In 2008, University of Virginia Health System researchers have identified a gene associated with nicotine dependence in both Europeans and African Americans.

Many people are interested in the Warrior Gene, which I wrote about here.

At Promethease, traits are simply included with the rest of the conditions known to be associated with certain SNPs, such as baldness, for example, but I haven’t done a comparison to see which traits are included.

 

Additional Vendor Information to Consider

Before making your final decision about which test or tests to purchase, there are a few additional factors you may want to consider.

As mentioned before, Ancestry requires a subscription in addition to the cost of the DNA test for the DNA test to be fully functional.

One of the biggest issues, in my opinion, is that both 23andMe and Ancestry sell customer’s anonymized DNA information to unknown others. Every customer authorizes the sale of their information when they purchase or activate a kit – even though very few people actually take the time to read the Terms and Conditions, Privacy statements and Security documents, including any and all links. This means most people don’t realize they are authorizing the sale of their DNA.

At both 23andMe and Ancestry, you can ALSO opt in for additional non-anonymized research or sale of your DNA, which you can later opt out of. However, you cannot opt out of the lower level sale of your anonymized DNA without removing your results from the data base and asking for your sample to be destroyed. They do tell you this, but it’s very buried in the fine print at both companies. You can read more here.

Family Tree DNA does not sell your DNA or information.

All vendors can change their terms and conditions at any time. Consumers should always thoroughly read the terms and conditions including anything having to do with privacy for any product they purchase, but especially as it relates to DNA testing.

Family Tree DNA archives your DNA for later testing, which has proven extremely beneficial when a family member has passed away and a new test is subsequently introduced or the family wants to upgrade a current test.  Had my mother’s DNA not been archived at Family Tree DNA, I would not have Family Finder results for her today – something I thank Mother and Family Tree DNA for every single day.

Family Tree DNA also accepts transfer files from 23andMe, Ancestry and very shortly, MyHeritage – although some versions work better than others. For details on which companies accept which file versions, from which vendors, and why, please read Autosomal DNA Transfers – Which Companies Accept Which Tests?

If you tested on a compatible version of the 23andMe Test (V3 between December 2010 and November 2013) or the Ancestry V1 (before May 2016) you may want to transfer your raw data file to Family Tree DNA for free and pay only $19 for full functionality, as opposed to taking the Family Finder test. Family Tree DNA does accept later versions of files from 23andMe and Ancestry, but you will receive more matches if you test on the same chip platform that Family Tree DNA utilizes instead of doing a transfer.

Additional Vendor Considerations Summary Chart

Family Tree DNA Ancestry 23andMe
Subscription required in addition to cost of DNA test No Yes for full functionality, partial functionality is included without subscription, minimum subscription is $49 by calling Ancestry No
Customer Support Good and available Available, nice but often not knowledgeable about DNA Poor
Sells customer DNA information No Yes Yes
DNA raw data file available to download Yes Yes Yes
DNA matches file available to download including match info and chromosome match locations Yes No Yes
Customers genealogically focused Yes Yes Many No
Accepts DNA raw data transfer files from other companies Yes, most, see article for specifics No No
DNA archived for later testing Yes, 25 years No No
Beneficiary provision available Yes No No

 

Which Test is Best For You?

I hope you now know the answer as to which DNA test is best for you – or maybe it’s multiple tests for you and other family members too!

DNA testing holds so much promise for genealogy. I hesitate to call DNA testing a miracle tool, but it often is when there are no records. DNA testing works best in conjunction with traditional genealogical research.

There are a lot of tests and options.  The more tests you take, the more people you match. Some people test at multiple vendors or upload their DNA to third party sites like GedMatch, but most don’t. In order to make sure you reach those matches, which may be the match you desperately need, you’ll have to test at the vendor where they tested. Otherwise, they are lost to you. That means, of course, that eventually, if you’re a serious genealogist, you’ll be testing at all 3 vendors.  Don’t forget about Y and mitochondrial tests at Family Tree DNA.

Recruit family members to test and reach out to your matches.  The more you share and learn – the more is revealed about your ancestors. You are, after all, the unique individual that resulted from the combination of all of them!

Update: Vendor prices updated June 22, 2017.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

Promethease – Genetic Health Information Alternative

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People are beginning to ask about how they can obtain some of the health information that they were previously receiving from 23andMe.  For $5, at Promethease,  you can upload any of the autosomal files from either Family Tree DNA, 23andMe or Ancestry.com.  They will process your raw data and provide you with a report that is available to download from their server for 45 days.  They also e-mail you a copy.

At Promethease, your raw data file is deleted within 24 hours of completion of your report, and your report file will be deleted after 45 days, so be sure to download your report for future reference.  Currently they process about 20,000 genotypes, or SNPs.  They do note that they update their data base regularly from SNPedia, fed from PubMed publications.  Therefore your report in the future will include SNPs that won’t be in your report today and what we’ve learned about those SNPs may differ as well.

They have also noted that you receive different items in your report based on which vendor’s full data file you submit.  That’s true.  I uploaded all 3 of my raw data files, from Ancestry, 23andMe and Family Tree DNA and ran Promethease against each of them.  While 23andMe optimized their chip for medical and health results, Family Tree DNA intentionally removed some medically relevant data in order to avoid any FDA type of issues.  It’s unknown how Ancestry treats medically significant SNPs, but I’m running all 3 vendor’s files to view differences.

  • The Promethease report utilizing the 23andMe raw data file reported on 20,080 genotypes.
  • The Promethease report utilizing the Family Tree DNA raw data file reported on 8179 genotypes.
  • The Promethease report utilizing the Ancestry raw data file reported on 10,498 genotypes.

To start the process of uploading your file and running your report, visit:

https://promethease.com/ondemand

Of course, you’ll need to take care of housekeeping, sign up and pay.

You will then be asked to select an ethnicity.  I always hate this question, because I’m more than one and the categories never fit.  If you don’t fit any category well, select the closest.   Promethease says it only affects the sort order.  That was a relief to me, as I always wonder what I’m missing by making one selection over another.

While the report actually runs, which takes about 15-20 minutes, amuse yourself by watching the video about how to download, read and understand your results.  Or you could write a blog, like me!

Promethease instructional video

You can review this video at any time by visiting the original link.  It does make more sense after you have your report in hand.

My report only took 8 minutes to run, and according to the front page of my report, they analyzed over 20,000 SNPs or known mutation locations.  I’m excited to see what my report holds.

One of the reasons I’ve been interested in this type of DNA reporting is that my mother was “diagnosed” with Parkinson’s Disease. I put diagnosed in quotes, because Parkinson’s is a diagnosis of exclusion, for which there is no specific diagnostic test, meaning the diagnosis is one made after other alternative diseases for which there are tests, are excluded.  However, she never had some of the traditional symptoms, like the specific walking gait typical in Parkinson’s patients, nor some of the other symptoms, nor were the Parkinson’s medications effective in controlling her hand tremors. Her father also had the same tremors, which I’ve always suspected was Familial Tremor, not Parkinson’s.  I wanted to see if Mom or I carried elevated risk for Parkinson’s.  Mom’s DNA was archived at Family Tree DNA, so I could run the Family Finder test even though she had passed away by the time autosomal testing was available.  So I uploaded and ran her file at Promethease too, and compared with my own.

So, let’s look at my report based on the 23andMe raw data file.

Promethease report

At this point, you have to choose to click on “Bad News” or “Good News” first.  Someone should do a study about whether you select bad or good is genetically influenced.

In my case, I was interested to see if my “bad news” was the same “bad news” that 23andMe provided.  My top “bad news” item is indeed the same item that is reported at 23andMe.  Having said that, there are a lot more and different items here that were not reported at 23andMe.  After looking at the varied results from Promethease, I suspect that 23andMe was trying to distill data on my behalf.

However, Promethease does not attempt to analyze your results.  Some mutations are known to be connected to multiple conditions, so they simply tell you that.  In some cases, you will have some negative and some positive mutations for the same disease.  Again, they simply inform you, complete with a reference.  It’s worth noting that for one disease I’m particularly interested in, Parkinson’s, I have a lot of conflicting data, pages worth.  This just goes to show how complex interpreting this information really is, and shows that genetic predisposition, positive or negative, with only a few exceptions, is not genetic predetermination.

My good news made me feel really good.  I’m at decreased risk of frontotemporal dementia or Alzheimer’s and Parkinson’s.  I’m optimistic and empathetic.  I wonder if this has anything to do with selecting the bad news option first – I knew I had the good news to look forward to.  Get the bad stuff over with and get on with it…

Ironically, some of my good news items are in direct conflict with some of my bad news items.  And yes, some are Parkinson’s, which has apparently been more heavily studied that some other diseases.  Hopefully, the decreased and elevated risks will cancel each other out and I’ll just be average.

However, when running my Ancestry data file at Promethease, one of my elevated risks was Parkinson’s, based on the SNPs discovered in the 23andMe research, which conflicts directly with the information provided based on the 23andMe raw data file.  Searching further, different SNPs have been reported to either be associated with increased or decreased incidence of the disease – and I carry some of each – but none are extremely elevated.

So where does this leave me in terms of whether Mom had Parkinson’s, or not?  There is nothing to indicate an extremely high risk of Parkinson’s.  Some indicators are for elevated risk, some for reduced risk.  Compared to the one condition I know she had, which has a very highly elevated risk in all 3 reports, the Parkinson’s risk is simply unremarkable and doesn’t stand out.  Bottom line – I still don’t know for sure, but I still don’t think she had Parkinson’s.  Had I found highly elevated risk factors,  I would have rethought my opinion.

Many diseases have multiple genetic components along with other external factors.  Of course, not all studies report the same findings, and this report is based on academic medical studies.

Rarely are genetic predispositions more than just that, a slightly increased or decreased probability.  Few are fatal and some are more of a life sentence than a death sentence.  Having said this, there are notable exceptions, and if you really don’t want to know a worst case scenario, or aren’t prepared to deal with the results, don’t participate in DNA testing or reporting for medical or health information.  If you have reason to suspect your family may carry one of the genetic terminal illnesses, visit your doctor for advice.

And speaking of physicians, much of this information, such as the information about how certain medications are metabolized could be critically important.  In my case, I’m actually taking one of the mediations that is referenced where I have a decreased sensitivity.  Yep, I knew that, but now I can provide this information to my physician.

For those who tend to worry and borrow trouble they don’t yet have, running this type of report might not be a good idea.  It’s certainly not for hypochondriacs – IMHO.  It’s a personal choice, and a very inexpensive one at that, so financially available to everyone.  If what it contains is going to worry you, don’t do it.  I noticed that there are several anxiety categories in these reports – but then you have to run the report to see if you carry them – kind of a catch 22 if you tend to be anxious and worry.

My personal perspective is that there may be information here that is valuable to me, or to my physicians, or to my children.  The worst “bad news” item I already knew about through 23andMe, but I also anticipated that condition, without genetic testing, because my mother had this same disease in old age.  I’m not referring now to the Parkinson’s, but a vision related condition that she definitely did have.  This item was also consistently reported at a high degree of risk utilizing the data files of 23andMe, Family Tree DNA and Ancestry.  Thankfully, it is an old age problem and one that can be treated, if not cured today.  The Promethease reports, along with 23andMe’s report, have simply reinforced that I need to be proactive and vigilant and to eat lots of veggies.  The good news is that many items include preventative measures in the verbiage or associated studies that your Promethease report links to at SNPedia.

How does this report compare to the 23andMe experience, assuming 23andMe was still an option or might be again in the future for health information?  The 23andMe customer interface is much smoother and more user friendly.  It seems to be focused on more “fun” and less “worry.”  The Promethease report is that, a report, although they do a great job making it interactive.  There is no sugar coating – just the facts Ma’am.  And I think it’s actually much easier to use.  You can easily search by disease, by category, and the searches actually work.

Promethease differs in another way too.  Personally I like the idea that my data is mine, I’m in complete control of it, and it’s not being sold by Promethease out the back door for studies or purposes I might not be too thrilled about.  I don’t want my DNA to be used to patent genes that cause the tests for the condition to be restricted to the patentee at dramatically inflated prices.  While the Supreme Court determined that genes can’t be patented in the case of the BRCA breast cancer genes, the fight continues with lawsuits being filed, and 23andMe holds a Parkinson’s patent that was obtained by utilizing customer data.   Nor do I want my data to be used to patent the technology for “designer babies.”  If my DNA is going to be utilized for research, I want the ability to authorize that use, specifically.

Therefore, I feel much better about uploading a raw data file from an autosomal test at a firm like Family Tree DNA, who NEVER sells or otherwise divulges my data without first requesting permission.  I thereby maintain complete control over my genetic results, rather than utilizing companies who either sell (or otherwise utilize) my results or reserve the right to do so.  This is the case with both 23andMe and Ancestry.com, and to be clear, they have never claimed otherwise.?????????????????????????????

And oh, I forgot to mention…I am just so relieved….I have a decreased risk of baldness….

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research