Category Archives: Genos

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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Genos Will Be Discontinued June 22, 2020 – Download Your Data Now

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Sadly, Genos (original article here) is discontinuing both its service and supporting the customer portal to access your results. This means that if you tested with Genos, you need to download your raw data file now (before June 22, 2020) to be able to utilize your raw DNA with other providers that accept an exome file.

What I liked about Genos, aside from the medical information and easy-to-use platform, was that instead of selling your data for research, with them retaining the money, they provided a platform for you to make your DNA available for studies. The study organizer would contact you directly, and you could choose based on the study involved. That’s much more transparent and fair to the consumer than other models where you consent generally, but literally have no idea where your DNA is, or who is using it for what type of study.

Here’s what the email from Genos said.

Genos1

Genos2

Genos3

Download Now

Download your raw data file now.

Sign in to your account at Genos. You’ll see the following options on the Data Download page:

Genos4

I recommend downloading your data in all of the available formats. Be sure to name the files something familiar, so you know what they are. On a PC, these files download into the Downloads folder, and you’ll need to rename and move them.

You can upload your file to Promethease to receive similar medically focused results. I wrote about my experience with Promethease, here.

I hate to see a good product bite the dust. RIP Genos.

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.

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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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2016 Genetic Genealogy Retrospective

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In past years, I’ve written a “best of” article about genetic genealogy happenings throughout the year. For several years, the genetic genealogy industry was relatively new, and there were lots of new tools being announced by the testing vendors and others as well.

This year is a bit different. I’ve noticed a leveling off – there have been very few announcements of new tools by vendors, with only a few exceptions.  I think genetic genealogy is maturing and has perhaps begun a new chapter.  Let’s take a look.

Vendors

Family Tree DNA

Family Tree DNA leads the pack this year with their new Phased Family Matches which utilizes close relatives, up to third cousins, to assign your matches to either maternal or paternal buckets, or both if the individual is related on both sides of your tree.

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They are the first and remain the only vendor to offer this kind of feature.

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Phased Family Matching is extremely useful in terms of identifying which side of your family tree your matches are from. This tool, in addition to Family Tree DNA’s nine other autosomal tools helps identify common ancestors by showing you who is related to whom.

Family Tree DNA has also added other features such as a revamped tree with the ability to connect DNA results to family members.  DNA results connected to the tree is the foundation for the new Phased Family Matching.

The new Ancient Origins feature, released in November, was developed collaboratively with Dr. Michael Hammer at the University of Arizona Hammer Lab.

Ancient European Origins is based on the full genome sequencing work now being performed in the academic realm on ancient remains. These European results fall into three primary groups of categories based on age and culture.  Customer’s DNA is compared to the ancient remains to determine how much of the customer’s European DNA came from which group.  This exciting new feature allows us to understand more about our ancestors, long before the advent of surnames and paper or parchment records. Ancient DNA is redefining what we know, or thought we knew, about population migration.

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You can view Dr. Hammer’s presentation given at the Family Tree DNA Conference in conjunction with the announcement of the new Ancient Origins feature here.

Family Tree DNA maintains its leadership position among the three primary vendors relative to Y DNA testing, mtDNA testing and autosomal tools.

Ancestry

In May of 2016, Ancestry changed the chip utilized by their tests, removing about 300,000 of their previous 682,000 SNPs and replacing them with medically optimized SNPs. The rather immediate effect was that due to the chip incompatibility, Ancestry V2 test files created on the new chip cannot be uploaded to Family Tree DNA, but they can be uploaded to GedMatch.  Family Tree DNA is working on a resolution to this problem.

I tested on the new Ancestry V2 chip, and while there is a difference in how much matching DNA I share with my matches as compared to the V1 chip, it’s not as pronounced as I expected. There is no need for people who tested on the earlier chip to retest.

Unfortunately, Ancestry has remained steadfast in their refusal to implement a chromosome browser, instead focusing on sales by advertising the ethnicity “self-discovery” aspect of DNA testing.

Ancestry does have the largest autosomal data base but many people tested only for ethnicity, don’t have trees or have private trees.  In my case, about half of my matches fall into that category.

Ancestry maintains its leadership position relative to DNA tree matching, known as a Shared Ancestor Hint, identifying common ancestors in the trees of people whose DNA matches.

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23andMe

23andMe struggled for most of the year to meet a November 2015 deadline, which is now more than a year past, to transition its customers to the 23andMe “New Experience” which includes a new customer interface. I was finally transitioned in September 2016, and the experience has been very frustrating and extremely disappointing, and that’s putting it mildly. Some customers, specifically international customers, are still not transitioned, nor is it clear if or when they will be.

I tested on the 23andMe older V3 chip as well as their newer V4 chip. After my transition to the New Experience, I compared the results of the two tests. The new security rules incorporated into the New Experience meant that I was only able to view about 25% of my matches (400 of 1651(V3) matches or 1700 (V4) matches). 23andMe has, in essence, relegated themselves into the non-player status for genetic genealogy, except perhaps for adoptees who need to swim in every pool – but only then as a last place candidate. And those adoptees had better pray that if they have a close match, that match falls into the 25% of their matches that are useful.

In December, 23andMe began providing segment information for ethnicity segments, except the parental phasing portion does not function accurately, calling into question the overall accuracy of the 23andme ethnicity information. Ironically, up until now, while 23andMe slipped in every other area, they had been viewed at the best, meaning most accurate, in terms of ethnicity estimates.

New Kids on the Block

MyHeritage

In May of 2016, MyHeritage began encouraging people who have tested at other vendors to upload their results. I was initially very hesitant, because aside from GedMatch that has a plethora of genetic genealogy tools, I have seen no benefit to the participant to upload their DNA anyplace, other than Family Tree DNA (available for V3 23andMe and V1 Ancestry only).

Any serious genealogist is going to test at least at Family Tree DNA and Ancestry, both, and upload to GedMatch. My Heritage was “just another upload site” with no tools, not even matching initially.

However, in September, MyHeritage implemented matching, although they have had a series of what I hope are “startup issues,” with numerous invalid matches, apparently resulting from their usage of imputation.

Imputation is when a vendor infers what they think your DNA will look like in regions where other vendors test, and your vendor doesn’t. The best example would be the 300,000 or so Ancestry locations that are unique to the Ancestry V2 chip. Imputation would result in a vendor “inferring” or imputing your results for these 300,000 locations based on…well, we don’t exactly know based on what. But we do know it cannot be accurate.  It’s not your DNA.

In the midst of this, in October, 23andMe announced on their forum that they had severed a previous business relationship with MyHeritage where 23andMe allowed customers to link to MyHeritage trees in lieu of having customer trees directly on the 23andMe site.  This approach had been problematic because customers are only allowed 250 individuals in their tree for free, and anything above that requires a MyHeritage subscription.  Currently 23andMe has no tree capability.

It appears that MyHeritage refined their DNA matching routines at least somewhat, because many of the bogus matches were gone in November when they announced that their beta was complete and that they were going to sell their own autosomal DNA tests. However, matching issues have not disappeared or been entirely resolved.

While Family Tree DNA’s lab will be processing the MyHeritage autosomal tests, the results will NOT be automatically placed in the Family Tree DNA data base.

MyHeritage will be doing their own matching within their own database. There are no comparison tools, tree matching or ethnicity estimates today, but My Heritage says they will develop a chromosome browser and ethnicity estimates. However, it is NOT clear whether these will be available for free to individuals who have transferred their results into MyHeritage or if they will only be available to people who tested through MyHeritage.

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For the record, I have 28 matches today at MyHeritage.

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I found that my second closest match at MyHeritage is also at Ancestry.

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At MyHeritage, they report that I match this individual on a total of 64.1 cM, across 7 segments, with the largest segment being 14.9 cM.

Ancestry reports this same match at 8.3 cM total across 1 segment, which of course means that the longest segment is also 8.3 cM.

Ancestry estimates the relationship as 5th to 8th cousin, and MyHeritage estimates it as 2nd to 4th.

While I think Ancestry’s Timber strips out too much DNA, there is clearly a HUGE difference in the reported results and the majority of this issue likely lies with the MyHeritage DNA imputation and matching routines.

I uploaded my Family Tree DNA autosomal file to MyHeritage, so MyHeritage is imputing at least 300,000 SNPs for me – almost half of the SNPs needed to match to Ancestry files.  They are probably imputing that many for my match’s file too, so that we have an equal number of SNPs for comparison.  Combined, this would mean that my match and I are comparing 382,000 actual SNPs that we both tested, and roughly 600,000 SNPs that we did not test and were imputed.  No wonder the MyHeritage numbers are so “off.”

My Heritage has a long way to go before they are a real player in this arena. However, My Heritage has potential, as they have a large subscriber base in Europe, where we desperately need additional testers – so I’m hopeful that they can attract additional genealogists that are willing to test from areas that are under-represented to date.

My Heritage got off to a bit of a rocky start by requiring users to relinquish the rights to their DNA, but then changed their terms in May, according to Judy Russell’s blog.

All vendors can change their terms at any time, in a positive or negative direction, so I would strongly encourage all individuals considering utilizing any testing company or upload service to closely read all the legal language, including Terms and Conditions and any links found in the Terms and Conditions.

Please note that MyHeritage is a subscription genealogy site, similar to Ancestry.  MyHeritage also owns Geni.com.  One site, MyHeritage, allows individual trees and the other, Geni, embraces the “one world tree” model.  For a comparison of the two, check out Judy Russell’s articles, here and here.  Geni has also embraced DNA by allowing uploads from Family Tree DNA of Y, mitochondrial and autosomal, but the benefits and possible benefits are much less clear.

If the MyHeritage story sounds like a confusing soap opera, it is.  Let’s hope that 2017 brings both clarity and improvements.

Living DNA

Living DNA is a company out of the British Isles with a new test that purports to provide you with a breakdown of your ethnicity and the locations of your ancestral lines within 21 regions in the British Isles.  Truthfully, I’m very skeptical, but open minded.

They have had my kit for several weeks now, and testing has yet to begin.  I’ll write about the results when I receive them.  So far, I don’t know of anyone who has received results.

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Genos

I debated whether or not I should include Genos, because they are not a test for genealogy and are medically focused. However, I am including them because they have launched a new model for genetic testing wherein your full exome is tested, you receive the results along with information on the SNPs where mutations are found. You can then choose to be involved with research programs in the future, if you wish, or not.

That’s a vastly different model that the current approach taken by 23andMe and Ancestry where you relinquish your rights to the sale of your DNA when you sign up to test.  I like this new approach with complete transparency, allowing the customer to decide the fate of their DNA. I wrote about the Genos test and the results, here.

Third Parties

Individuals sometimes create and introduce new tools to assist genealogists with genetic genealogy and analysis.

I have covered these extensively over the years.

GedMatch, WikiTree, DNAGedcom.com and Kitty Cooper’s tools remain my favorites.

I love Kitty’s Ancestor Chromosome Mapper which maps the segments identified with your ancestors on your chromosomes. I just love seeing which ancestors’ DNA I carry on which chromosomes.  Somehow, this makes me feel closer to them.  They’re not really gone, because they still exist in me and other descendants as well.

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In order to use Kitty’s tool, you’ll have to have mapped at least some of your autosomal DNA to ancestors.

The Autosomal DNA Segment Analyzer written by Don Worth and available at DNAGedcom is still one of my favorite tools for quick, visual and easy to understand segment matching results.

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GedMatch has offered a triangulation tool for some time now, but recently introduced a new Triangulation Groups tool.

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I have not utilized this tool extensively but it looks very interesting. Unfortunately, there is no explanation or help function available for what this tool is displaying or how to understand and interpret the results. Hopefully, that will be added soon, as I think it would be possible to misinterpret the output without educational material.

GedMatch also introduced their “Evil Twin” tool, which made me laugh when I saw the name.  Using parental phasing, you can phase your DNA to your parent or parents at GedMatch, creating kits that only have your mother’s half of your DNA, or your father’s half.  These phased kits allow you to see your matches that come from that parent, only.  However, the “Evil Twin” feature creates a kit made up of the DNA that you DIDN’T receive from that parent – so in essence it’s your other half, your evil twin – you know, that person who got blamed for everything you “didn’t do.”  In any case, this allows you to see the matches to the other half of your parent’s DNA that do not show up as your matches.

Truthfully, the Evil Twin tool is interesting, but since you have to have that parent’s DNA to phase against in the first place, it’s just as easy to look at your parent’s matches – at least for me.

Others offer unique tools that are a bit different.

DNAadoption.com offers tools, search and research techniques, especially for adoptees and those looking to identify a parent or grandparents, but perhaps even more important, they offer genetic genealogy classes including basic and introductory.

I send all adoptees in their direction, but I encourage everyone to utilize their classes.

WikiTree has continued to develop and enhance their DNA offerings.  While WikiTree is not a testing service nor do they offer autosomal data tools like Family Tree DNA and GedMatch, they do allow individuals to discover whether anyone in their ancestral line has tested their Y, mitochondrial or autosomal DNA.

Specifically, you can identify the haplogroup of any male or female ancestor if another individual from that direct lineage has tested and provided that information for that ancestor on WikiTree.  While I am generally not a fan of the “one world tree” types of implementations, I am a fan of WikiTree because of their far-sighted DNA comparisons, the fact that they actively engage their customers, they listen and they expend a significant amount of effort making sure they “get it right,” relative to DNA. Check out WikiTree’s article,  Putting DNA Results Into Action, for how to utilize their DNA Features.

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Thanks particularly to Chris Whitten at WikiTree and Peter Roberts for their tireless efforts.  WikiTree is the only vendor to offer the ability to discover the Y and mtDNA haplogroups of ancestors by searching trees.

All of the people creating the tools mentioned above, to the best of my knowledge, are primarily volunteers, although GedMatch does charge a small subscription service for their high end tools, including the triangulation and evil twin tools.  DNAGedcom does as well.  Wikitree generates some revenue for the site through ads on pages of non-members. DNAAdoption charges nominally for classes but they do have need-based scholarships. Kitty has a donation link on her website and all of these folks would gladly accept donations, I’m sure.  Websites and everything that goes along with them aren’t free.  Donations are a nice way to say thank you.

What Defined 2016

I have noticed two trends in the genetic genealogy industry in 2016, and they are intertwined – ethnicity and education.

First, there is an avalanche of new testers, many of whom are not genetic genealogists.

Why would one test if they weren’t a genetic genealogist?

The answer is simple…

Ethnicity.

Or more specifically, the targeted marketing of ethnicity.  Ethnicity testing looks like an easy, quick answer to a basic human question, and it sells kits.

Ethnicity

“Kim just wanted to know who she was.”

I have to tell you, these commercials absolutely make me CRINGE.

Yes, they do bring additional testers into the community, BUT carrying significantly misset expectations. If you’re wondering about WHY I would suggest that ethnicity results really cannot tell you “who you are,” check out this article about ethnicity estimates.

And yes, that’s what they are, estimates – very interesting estimates, but estimates just the same.  Estimates that provide important and valid hints and clues, but not definitive answers.

ESTIMATES.

Nothing more.

Estimates based on proprietary vendor algorithms that tend to be fairly accurate at the continental level, and not so much within continents – in particular, not terribly accurate within Europe. Not all of this can be laid a the vendor’s feet.  For example, DNA testing is illegal in France.  Not to mention, genetic genealogy and population genetics is still a new and emerging field.  We’re on the frontier, folks.

The ethnicity results one receives from the 3 major vendors (Ancestry, Family Tree DNA and 23andMe) and the various tools at GedMatch don’t and won’t agree – because they use different reference populations, different matching routines, etc.  Not to mention people and populations move around and have moved around.

The next thing that happens, after these people receive their results, is that we find them on the Facebook groups asking questions like, “Why doesn’t my full blooded Native American grandmother show up?” and “I just got my Ancestry results back. What do I do?”  They mean that question quite literally.

I’m not making fun of these people, or light of the situation. Their level of frustration and confusion is evident. I feel sorry for them…but the genetic genealogy community and the rest of us are left with applying ointment and Band-Aids.  Truthfully, we’re out-numbered.

Because of the expectations, people who test today don’t realize that genetic testing is a TOOL, it’s not an ANSWER. It’s only part of the story. Oh, and did I mention, ethnicity is only an ESTIMATE!!!

But an estimate isn’t what these folks are expecting. They are expecting “the answer,” their own personal answer, which is very, very unfortunate, because eventually they are either unhappy or blissfully unaware.

Many become unhappy because they perceive the results to be in error without understanding anything about the technology or what information can reasonably be delivered, or they swallow “the answer” lock stock and barrel, again, without understanding anything about the technology.

Ethnicity is fun, it isn’t “bad” but the results need to be evaluated in context with other information, such as Y and mitochondrial haplogroups, genealogical records and ethnicity results from the other major testing companies.

Fortunately, we can recruit some of the ethnicity testers to become genealogists, but that requires education and encouragement. Let’s hope that those DNA ethnicity results light the fires of curiosity and that we can fan those flames!

Education

The genetic genealogy community desperately needs educational resources, in part as a result of the avalanche of new testers – approximately 1 million a year, and that estimate may be low. Thankfully, we do have several education options – but we can always use more.  Unfortunately, the learning curve is rather steep.

My blog offers just shy of 800 articles, all key word searchable, but one has to first find the blog and want to search and learn, as opposed to being handed “the answer.”

Of course, the “Help” link is always a good place to start as are these articles, DNA Testing for Genealogy 101 and Autosomal DNA Testing 101.  These two articles should be “must reads” for everyone who has DNA tested, or wants to, for that matter.  Tips and Tricks for Contact Success is another article that is immensely helpful to people just beginning to reach out.

In order to address the need for basic understanding of autosomal DNA principles, tools and how to utilize them, I began the “Concepts” series in February 2016. To date I offer the following 15 articles about genetic genealogy concepts. To be clear, DNA testing is only the genetic part of genetic genealogy, the genealogical research part being the second half of the equation.

My blog isn’t the only resource of course.

Kelly Wheaton provides 19 free lessons in her Beginners Guide to Genetic Genealogy.

Other blogs I highly recommend include:

Excellent books in print that should be in every genetic genealogist’s library:

And of course, the ISOGG Wiki.

Online Conference Resources

The good news and bad news is that I’m constantly seeing a genetic genealogy seminar, webinar or symposium hosted by a group someplace that is online, and often free. When I see names I recognize as being reputable, I am delighted that there is so much available to people who want to learn.

And for the record, I think that includes everyone. Even professional genetic genealogists watch these sessions, because you just never know what wonderful tidbit you’re going to pick up.  Learning, in this fast moving field, is an everyday event.

The bad news is that I can’t keep track of everything available, so I don’t mean to slight any resource.  Please feel free to post additional resources in the comments.

You would be hard pressed to find any genealogy conference, anyplace, today that didn’t include at least a few sessions about genetic genealogy. However, genetic genealogy has come of age and has its own dedicated conferences.

Dr. Maurice Gleeson, the gentleman who coordinates Genetic Genealogy Ireland films the sessions at the conference and then makes them available, for free, on YouTube. This link provides a list of the various sessions from 2016 and past years as well. Well worth your time!  A big thank you to Maurice!!!

The 19 video series from the I4GG Conference this fall is now available for $99. This series is an excellent opportunity for genetic genealogy education.

As always, I encourage project administrators to attend the Family Tree DNA International Conference on Genetic Genealogy. The sessions are not filmed, but the slides are made available after the conference, courtesy of the presenters and Family Tree DNA. You can view the presentations from 2015 and 2016 at this link.

Jennifer Zinck attended the conference and published her excellent notes here and here, if you want to read what she had to say about the sessions she attended. Thankfully, she can type much faster and more accurately than I can! Thank you so much Jennifer.

If you’d like to read about the unique lifetime achievement awards presented at the conference this year to Bennett Greenspan and Max Blankfeld, the founders of Family Tree DNA, click here. They were quite surprised!  This article also documents the history of genetic genealogy from the beginning – a walk down memory lane.

The 13th annual Family Tree DNA conference which will be held November 10-12, 2017 at the Hyatt Regency North Houston. Registration is always limited due to facility size, so mark your calendars now, watch for the announcement and be sure to register in time.

Summary

2016 has been an extremely busy year. I think my blog has had more views, more comments and by far, more questions, than ever before.

I’ve noticed that the membership in the ISOGG Facebook group, dedicated to genetic genealogy, has increased by about 50% in the past year, from roughly 8,000 members to just under 12,000. Other social media groups have been formed as well, some focused on specific aspects of genetic genealogy, such as specific surnames, adoption search, Native American or African American heritage and research.

The genetic aspect of genealogy has become “normal” today, with most genealogists not only accepting DNA testing, but embracing the various tools and what they can do for us in terms of understanding our ancestors, tracking them, and verifying that they are indeed who we think they are.

I may have to explain the three basic kinds of DNA testing and how they are used today, but no longer do I have to explain THAT DNA testing for genealogy exists and that it’s legitimate.

I hope that each of us can become an ambassador for genetic genealogy, encouraging others to test, with appropriate expectations, and helping to educate, enlighten and encourage. After all, the more people who test and are excited about the results, the better for everyone else.

Genetic genealogy is and can only be a collaborative team sport.

Here’s wishing you many new cousins and discoveries in 2017.

Happy New Year!!!

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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

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Genealogy Research

Genos – A Medically Focused DNA Exome Test

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Update: As of July 2019, this test and my results are now at https://genos.co after Genos was sold. Original article follows below.

On June 21, 2016, I placed an order for a DNA test with a new company, Genos at http://www.genosresearch.com. The first week of October I received my results.

Genos is a new type of testing company, focused not on genealogy, but on the human exome and medical conditions. Of course, that doesn’t mean that the genetic genealogy community might not find a way to utilize these tests in the future – but today this test is not useful genealogically.

A typical genetic genealogy autosomal test tests between roughly 500,000 and 900,000 locations to compare to others to determine kinship. These are the most variable locations in our genome, the ones most likely to differ from each other and be genealogically useful.

Exome testing, on the other hand, tests 50 million locations – the ones most often medically relevant and the ones we know the most about. Testing the 99% or so of our genome that is exactly like every other human is pointless, for either genetic genealogy or medicine.

What is an Exome?

What is the exome? Genos explains.

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Let’s step through the ordering process, then look at my results. They are very interesting.

What is Genos?

Before ordering, I did a bit of research on what Genos offers, what makes them different, and what kind of potential they might have to help me understand my own genes and conditions that makes me unique.

Let’s take a look.

Founders

Genos was founded by these two men.

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The next tab is Values, and I’m really impressed, especially with number 4, below.

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And the Genos Vision:

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Let’s move to the Product page.

Product

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Ordering

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Your DNA at Genos is yours, entirely, and you can choose when, where and if you want to participate in studies, unlike Ancestry and 23andMe where the consent you MUST AGREE TO in order to activate your kit includes allowing them to sell and profit from your DNA.

Family Tree DNA does NOT sell your DNA. Family Tree DNA does not want the genetic genealogy community to associate genetic genealogy testing with medical testing, because of concerns that it might discourage some people from testing for genealogy.

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Before ordering, as with any DNA sequencing product or service, please read the Genos Terms of Service here. The Privacy Policy is here and the Terms of Use are here. These are all actually different parts of one larger document titled “Genos Legal Policies.”

As far as I’m concerned, this is the overarching important sentence:

We do not sell, lease, or rent your User Information without your explicit consent.

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Also keep in mind that as with all companies, policies can and do change over time – and it’s the consumer’s responsibility to stay current with the policies of any company you do business with.

A New Business Model

Genos is trying a new business model both in terms of testing the entire exome and in terms of allowing participants to actively participate in selecting research projects, so I decided to be on the frontier of this brave new world. You pay for the sequencing, but the results are yours, forever, whether you participate in medical research projects or not, and Genos doesn’t sell your DNA or otherwise share your DNA results without your permission. You own it and you control it. Period.

I want to contribute to and facilitate research, but I want to select the research projects in which I choose to participate. I don’t feel that it’s ethically or morally right for a company to in essence capture and co-opt my DNA by holding forth the lure of my ancestors as bait. Both Ancestry and 23andMe participate in this unsavory practice. The Genos model very specifically does NOT do that.

Right now, the Genos Exome sequencing product and services are in BETA.

I was the 98th person to order this test, although I’m sure many more have ordered since June.

Let’s take a look at my results.

My Personal Logo

The first thing Genos does is to introduce you to your genome by creating a personal logo for you, if you select that option. I did, of course.

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The circle twirled and locations on my chromosome lit up, like tiny fireflies. I wish I had taken a video.

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Next, my unique logo, derived from my DNA, was displayed beside my name.

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OK, that was fun, but now, let’s look at the data and what, as a consumer, I receive.

The Four Options

Your results are broken down into 4 categories. You can explore your genome, click on Health Identity, view the News or look at the educational Genomics 101 section.

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I first spent a few minutes looking at Genomics 101 which is professional and well written. It includes chapters covering questions like, “What is a gene?”

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The News section includes links to articles you may find of interest. Of course, I was dying to see my results, so I quickly moved on to the “Explore Genome” tab, where I saw the Map Your Genome page. So, let’s map my genome.

Map Your Genome

Genos compares your genome of the standardized Genome Reference Consortium reference model.

On the page, below, Genos shows me the 44,154 locations where I vary from the reference model, of which only 773 of these have known medical affiliations or mentions in medical papers. The key word here, of course, is KNOWN. The rest of the variants could be family differences, recently introduced or perhaps from generations back in time. Those locations may not be medically significant, or they may be, but we just don’t know how yet. Time and research will tell.

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Out of the 50 million loci (locations) sequenced, I have 773 variants which are certainly of interest and may or may not be relevant medically.

I wondered what happens when a new variant is discovered to be medically relevant or found in a new paper. Would my 773 become 774, or is this a static page, really only relevant to today? I wrote and asked Genos, and discovered that their customer support is very prompt, courteous and helpful. Here’s what they had to say.

At no additional cost to you, as the information in ClinVar (the NIH sponsored database) is updated with new assessments and new discoveries, your data will be automatically updated through our digital experience. This ensures that you are always aware of the latest literature available.

This is great news, making this product infinitely useful (medically) into the future.

You can view all of your chromosomes with the chromosome number and the number of identified variants present on each chromosome, below.  Please note that you can click on any image to see a larger version.

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Genos allows you to browse your medically relevant variants and what they may mean. The results are broken down into “Conditions” and “Traits,” as seen at right, above.

The Conditions are health related, but just because you have a mutation that may be associated in literature with a particular condition, that does NOT mean you have or will ever be diagnosed with that condition. In fact, as you can see, the literature itself is often contradictory. We don’t always understand what makes one person get a disease while another person does not.

For this reason, nearly every page that involves conditions also contains a link to genetic counselors along with cautionary messages that succinctly warn people against assuming that variant=disease. It doesn’t.

Individual Chromosomes

You can explore each chromosome individually.

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I clicked on variant 1, on chromosome 1, above.

If I click on the NEXN with the right arrow, I see the display below.

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If I click on the G>A which means the normal G nucleotide at this location has been replaced with an A in my case, I see the following:

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I can then read more about this gene and the mutational variant.

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I must tell you that I feel very empowered by having my own genetic information at my fingertips that was previously entirely unavailable to me, or available only through a medical provider, if at all.

Conditions

Moving now to the Conditions link on the right hand side of the main page, I can see the following conditions, grouped by category.

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You can explore the Conditions link for conditions associated with your variants, the Traits or the Variants themselves.

By clicking on the icons, you can see how many variants you have in each category. The first category is allergies.

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For example, here is one of my Conditions. I’ve chosen to share this one because you can tell by looking at my picture that I am clearly NOT albino.

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Still, I carry at least one mutation associated with this condition.

Estes Publicity

Almost every single page carries this warning verbiage, which is proven by my albinism mutation and my somewhat younger photo when my hair was still its original color!

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Variants

Variants are divided into groups.

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Most of my findings are benign. Whew!!!

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This is an example of one of my benign variants.

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You can see that while this mutation is mostly benign, or green, some papers show it to fall into the other risk categories.

Please note the verbiage at the bottom of the screen.

“What is believed to be true today may be disproven tomorrow.” That’s part of why I’m participating in this type of testing.

The screen for each variant goes on to provide the links to the studies themselves, which may or may not agree, so you can read and digest for yourself. Please, unless you’re an MD, do not attempt to be your own doctor!

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Traits

The Traits at Genos are the same traits that are tested and reported by other testing firms as well.

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Like other genetic values, variants and results, these may or may not be accurate. My hair is very thick, as you can see from my photo, I taste bitter very well, unfortunately, and my skin is not light…at least not for someone primarily Caucasian. Some of these traits are clearly subjective. They make for interesting party conversation.

Health Identity

The next section of the website if for Health Identity. This is where you provide information about yourself and your health history. 

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If you’re going to participate in this type of endeavor, it’s important to provide Genos with as much information as possible. That’s one avenue for Genos to know who would might be a good candidate for specific kinds of research.

Research

While there aren’t any research projects yet underway today, there will be in the future.

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And last but not least…

Genetic Counselors

If you discover something you would like to know more about, or that concerns you, you can make contact with a genetic counselor through the Genos site.

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Caveat

I am, personally, very much an advocate of genetic research, when it is preformed ethically, transparently and with full disclosure. As far as I’m concerned, Genos absolutely fits that bill.

However, if someone were prone to anxiety or hypochondria, this type of testing might not be a good fit.

I’m not prone to either, and I have a very high risk tolerance level, but I still am inclined to spend quite a bit of time looking at the variants that aren’t benign. If you are in the “don’t want to know” camp, then don’t test. Bottom line.

Let me say this again.

Don’t test if you really don’t want to know.

You cannot put the genic back into the bottle once it’s out.

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Exome testing is different than genetic genealogy testing and has the potential to reveal information which may be frightening or distressing to some people, which is why I shared my results with you in such detail.

Looking to the Horizon

Having said that, I find exome testing absolutely fascinating. I would like to see if my children have the same variants that I do. Did they inherit those from me or did those variants bite the dust in my generation? Are there variants that I carry one of and my children have two, meaning their father contributed one as well? What does this mean, health-wise, potentially, for my grandchildren?  What did they inherit?

Of course, today, exome comparisons between individuals are not possible at Genos (or elsewhere), but perhaps in the future?

Could this type of testing be a step forward in identifying conditions and diseases not yet “discovered” as we define them today? Some mutations affect particular individual family lines negatively, and sometimes fatally. Can exome testing help these families, if not today, then tomorrow? Exome testing certainly has that and a lot more potential.

I’m excited about being able to select and participate in research studies with the ability for the researchers to contact me to follow up many years into the future, if need be. The new Genos model allows citizens willing to have their exome sequenced the opportunity to help shape the future of medical understanding and potentially, contribute to treatments and cures – in addition to learning a great deal about their own DNA and literally what makes them tick.  Which studies you participate in and what happens to your DNA is entirely within your control.

I hope that a research project (or projects) that I participate in eradicates a disease or diseases so that my descendants will only read about the disease in history books and will hopefully know that their ancestor played a small role in disease extermination.

In the mean time, I’m very actively participating in exome testing to attempt to track and identify a fatal family mutation that has plagued one family for at least 4 generations.  Of course, we don’t yet know how successful we will be.  However, exome testing, especially at this price, holds promise that was never available before. I hope that what today is literally a life and death experiment will one day be a standard testing routine available to any family with this type of issue.  I’ll let you know the outcome in a few months.

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