2016 Genetic Genealogy Retrospective

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.

Both Buckets

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.

ADSA Crumley cluster

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.

The Concepts Series

Concepts – How Your Autosomal DNA Identifies Your Ancestors

Concepts – Identical By Descent, State, Population and Chance

Concepts – CentiMorgans, SNPs and Pickin’ Crab

Concepts – Parental Phasing

Concepts – Y DNA Matching and Connecting With Your Paternal Ancestor

Concepts – Downloading Autosomal Data From Family Tree DNA

Concepts – Managing Autosomal DNA Matches – Step 1 – Assigning Parental Sides

Concepts – Genetic Distance

Concepts – Relationship Predictions

Concepts – Match Groups and Triangulation

Concepts – Sorting Spreadsheets for Autosomal DNA

Concepts – Managing Autosomal DNA Matches – Step 2 – Updating Matching Spreadsheets, Bucketed Family Finder Matches and Pileups

Concepts – Why DNA Testing the Oldest Family Members Is Critically Important

Concepts – Undocumented Adoptions Versus Untested Y Lines

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!!!

Genos – A Medically Focused DNA Exome Test

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.

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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.