New 23andMe Experience – In a Word, Disappointing

Almost a year after the 23andMe “new experience” was promised “shortly” and then subsequently promised by 2015 year end, it’s finally here. In case you haven’t noticed, it’s September of 2016. I could have gestated a baby in less time. However, let’s take a look at the new experience process and features. I’m going to record each step in this new experience since I’ve finally transitioned.

Unfortunately, the new experience began with the 23andMe system either being very slow or not working at all, so I’ve pieced this together from several attempts over a couple of weeks. You’d think for as much as the new test costs, $199, twice that of their competitors and their own old test, they could at least have a reasonable system response time. If that happens as fast as the New Experience, it will be another year. I cannot even begin to tell you how many times I saw this screen.

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22andMe, you should be embarrassed. Really!

The “New 23andMe”

I thought the day would never arrive, but I did finally receive this e-mail:

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Before we start reviewing the process and features, I want to mention that I did find an old to new feature converter, of sorts, provided by 23andMe. It’s not terribly useful, but it might be worth reviewing.

When you can get on and stay on the 23andMe system, you will see the following:

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The system did not default to “me,” but to another one of the kits I manage. The next screen was to select primary profile.

My birth date was required. This is bothersome to me. It was never required before, and frankly, it’s none of their business. I answered it truthfully, only because I was afraid it would be part of a security question someplace down the line.

The next screen is shown below asking about your DNA Relatives Preferences. Apparently your old preferences don’t port to the new experience, at least not in total.

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Here’s the infamous open sharing question that is supposed to replace all of the asking for permission to communicate and then asking for permission to share DNA segments. I say “supposed to,” because there is still a non-trivial amount of confusion surrounding options, as you’ll see shortly, but if you’re going to particulate in 23andMe for genealogy, do be sure to answer “yes.”

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Here is what 23andMe has to say about the new open sharing option.

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Next, you can review your profile and verify, add to or change your information.

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I personally think that displaying birth year is a potential security issue.

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Next, 23andMe prompts you to compete a Health Profile.

The Health Profile started with a question marital status, which is again, none of their business. You can tell that their focus has really shifted to gathering information about you at every opportunity.

I’m not interested in providing them with any additional information they can then sell, so I’m not answering these questions.

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You can opt instead to go to the home page, which is your new main account page, shown below.

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You can see your account status information and the information available to you. All of the old functions have been redesigned, renamed or obsoleted. Figuring out which is which, and where, is like a scavenger hunt combined with a snipe hunt.

Ok, now you’re ready to begin looking around the new 23andMe site. I have a feeling that their earliest testers were some of the last to be converted, so if you’re already doing all of this, apologies. However, maybe you’ll learn something from my experiences or maybe you have something to add from your own!

Ancestry aka Ethnicity

Let’s start with Ancestry and the 3 reports 23andMe is showing. As a genealogist, I’m interested in the genealogy aspect of the 23andMe reports.

These are what we generally refer to as the ethnicity reports.

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Let’s look first at Ancestry Composition

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Where did the ethnicity display mapped onto my chromosome go? Aha, it’s under Scientific Details – not what I would expect under that tab, but here it is.

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These colors are very difficult to distinguish from one another.

The bar above the browser shifts from Speculative to Conservative.

If you have a parent in the system, there used to be a “split view” where you could see your DNA “ancestry” as compared to that parent. That functionality is still there and is called “Inheritance View.”

I found the older “view” much easier to see and discern between the coloration. Here’s an example provided by 23andMe of the old versus the new.

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Matches

Ok, let’s see if I can find my matches on this new system. Hmm, looking under tools, I see DNA Relatives, so I’ll click there. This used to be the Family Inheritance Advanced functionality.

I get to watch a tutorial first.

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Looks like the new matching limit is 2000, a welcome increase. But why a match limit at all? Neither Family Tree DNA nor Ancestry have a match limit.

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And of course the chromosome browser comparison. Interesting, they tell you THAT it’s available, but they don’t show you where to find this functionality. You’ll see that this becomes important later on.

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Even though I’ve already opted into open sharing, I have to opt in again here and click on “View DNA Relatives.”

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One thing that really bothers me is that after I clicked on “View DNA Relatives” as opposed to “I do not want to participate,” I could not go back or otherwise change that selection. I tried the settings option, by clicking on the profile name, and it appears that there is no option to rescind this permission.

DNA Relatives

Here is the list of my DNA Relatives. If you’re comparing this to a previous list, all of the information is missing on this page that was visible before, like haplogroups, genealogy surnames, etc., which made it easy to see at a glance.

There is however, a color coded sharing “dot” but with no legend, so I have NO IDEA who is sharing and who isn’t – or exactly what that means. Furthermore, I’m not colorblind, but the dot is so small (and I have 27 inch monitors) that I can’t tell if the dots are blue, green or some blue and some green – or maybe they are bluegreen.

After the fact, I stumbled on to the legend in the “sort by” box, but after reviewing the results, the legend makes no sense when seeing the sharing options and my cousins.

Let’s take a look.

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So, the sharing legend is as follows:

  • Purple – open sharing
  • Blue/green – sharing
  • Yellow – Pending
  • Grey – not sharing

Let’s take a look at matches.

Blue Dot Match

According to the legend, a blue dot means sharing.

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In order to see additional information, I click on my matches’ profile. Let’s start with my cousin Cheryl who has a blue dot.  I was sharing with Cheryl before the transition.

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I can see my overlapping DNA with Cheryl, I can see her haplogroup and ethnicity, but at the bottom of the page, I cannot see any relatives in common because Cheryl has not participated in Open Sharing, according to the bottom of the screen shot below – although the blue/green dot indicates sharing, according to the legend. So does that mean we were sharing before (we were), but she has not clicked on open sharing since? And if so, what affect does that have? Which features and options are available under which kinds of old and new sharing combinations?  If Cheryl was sharing entirely with me before, which she was, why isn’t that sharing permission coming over into the new experience?  Why does she have to “reauthorize” sharing, if she has already given permission to share with me.  I’m confused, and let me say right here, that this question was never resolved.

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On the right hand side of the page is a place to type a message and send to my match.

Fortunately, or unfortunately, whatever your perspective, my closest matches are people I know well and was sharing with before.  This does make it much easier to do comparisons between the old and new experiences.

Let’s check another blue dot cousin.

Blue Dot Match 2

The next cousin’s information that I checked invited me to take a look at his tree. Now, that’s interesting because I didn’t think that 23andMe had trees anymore, so I clicked on this link.

Aha, I can see his tree, but the message above the tree says this:

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“As of May 1, 2015, the 23andMe Family Tree is view-only, and you are no longer able to edit or update your tree.  Your tree will remain available in this format in your account.  To edit or download your tree, import your tree data to MyHeritage.”

Of course, any tree with more than 250 people is not free at MyHeritage.

The match to this cousin says that he shows 103 surnames, but there is no matching surname feature to help me narrow down our matching surnames.

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There should be no difference between this cousin’s sharing status and the first cousin, because they are both blue, and we were sharing before the transition, but I can’t see his “Relatives in Common” either.

So far, this is very discouraging, because I can’t do or see what I could before with the same people who have previously authorized sharing.  I know, in one case, that the person is no longer actively involved in genealogy and that means that I’ve lost functionality because they can’t or won’t “reauthorize” sharing.  Why should they need to?

Let’s move on.

Grey Dot Match

My third cousin has a grey dot and he is not participating in open sharing, so I can’t see his ancestry report, which I’m presuming here are my chromosome matches with him, or the Relatives in Common. Ironically, he had a profile message that says, “Just interested in learning more about my heritage and family history…”

Clearly he doesn’t understand the sharing options either.

Yellow Dot Match

Let’s try a cousin with a yellow sharing dot, which means pending, although I’m not sure exactly what is pending, where, and with whom.

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Ok, this says that she is not sharing, in the top left corner, but that she has sent me a request to share Ancestry Reports. I’m open sharing, so why do I need to approve a request to share ancestry reports, and where do I do that?

23andMe does, however, show me our chromosome matches AND our relatives in common, even though we are supposedly “not sharing,” so I have no idea at all what else I would see if we were sharing.  In this case, what, exactly does “not sharing” mean and what else would I see by sharing?  Bizarre.

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I notice that she has send me a message. Messages show in the right hand margin.  That’s a nice feature, but still not as nice as the ability to e-mail someone directly.

Purple Dot Match

Last, let’s try a cousin with the purple open sharing dot.

Well, this is really confusing, because it says that they are not sharing, but again, I can see our chromosome matches. That looks like sharing to me!  I clearly don’t understand what “not sharing” means.  It’s pretty much clear as mud.

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I see a message at the bottom for me to request to share Ancestry Reports with her. However, I’m open sharing and since she has a purple dot, supposedly, so is she.

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23andMe has really made a mess of “sharing,” both in terms of implementation, it appears, and assuredly in terms of explanation.  There is not one category of “sharing,” including when both people are open sharing in the new system, or when both people have previously authorized sharing in the old system, where I can see every category in the new system.

Chromosome Browser 5 Person Comparison

I spent a lot of time hunting for the ability to compare the 5 people in the chromosome browser, although minute by minute, I was quickly reaching the “I don’t care” point.

Under the DNA Relatives Tutorial, it clearly says you CAN compare up to 5 relatives, and this page says you can too, but where and how? 23andMe omitted a rather critical piece of information, it seems.

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Please note that the above screen is displayed in Windows 10 using Internet Explorer, and if you scroll right, you can see more of the second column, but that’s all.

I finally found the Chromosome Browser that allows a comparison of up to 5 people, shown below. However, the function does not work correctly under Windows 10 with Internet Explorer. I switched to Edge and I could then see the compare option.  Believe it or not, it’s the same screen as above, but it doesn’t work correctly under Windows 10/Internet Explorer.

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Half Versus Fully Identical Segments

Another feature that appears to have gone missing in the “New Experience” is the ability to see half versus fully identical segments.

Half siblings will have NO fully identical segments, because while they both inherited DNA from their common parent, the other parent was different, so no segments that they have should match at the same address on both chromosomes, meaning the chromosome they received from their mother and the chromosome they received from their father.

On the other hand, full siblings will have a non-trivial amount of fully identical segments, and this comparison was the easiest way to unquestionably tell a half from a full sibling. The previous version showed you segments that were half identical and fully identical, color coded.  The new version does not and only reports half identical segments.

When comparing my V3 test to my V4 test, 23andMe indicates that I am a “twin” to myself, so all of my segments should be fully identical when compared to myself, but looking at the comparison, only the half identical segments are reported now.

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Here’s an example (below) at GedMatch of the half versus full functionality.  The screen shot below shows my Ancestry V1 kit compared to my FTDNA kit.  You can see by the legend that the green bar indicates a full match and the yellow bar indicates a half match.  On chromosomes 1 and 2, which is all that I’ve shown, you can see the tiny sliver of yellow segments where one kit or the other doesn’t read the same address, so at that location, there is a mismatch of some sort.  At every “normal” location, I match myself fully because I’m my own “identical twin” as far as the system is concerned, and I share both parents DNA fully when compared to myself, so a “full match.”

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Furthermore, at 23andMe can you view the DNA comparison results in a table, but you can’t download them yet to a spreadsheet, although 23andMe indicates that this functionality is coming. However, it used to work.

Downloading Aggregate Data

At the bottom of the DNA Relatives page, I found the Download Aggregate Data button. The “Save As” did not work correctly under Windows 10/Internet Explorer, but I was able to open the file, then save it.

Share and Compare

I get to watch another tutorial. The Share and Compare function seems to be primarily for people who have immediate family who have tested, such as parents, grandparents or siblings.

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The sharing and comparing all seems to be health except for Ancestry which is ethnicity. At the bottom, you can scroll through your matches and click on one to compare, and you’ll see much the same information as in the DNA Relatives section. If they are sharing health information, you’ll see more, such as traits.

Let’s see what else 23andMe has to offer.

Tools

On the Tools toolbar, I selected “All Tools.” We haven’t checked out “Family Tree” yet, so let’s do that. I didn’t think 23andMe had tree functionality anymore. Maybe this is a welcome surprise!

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The Family Tree link takes you directly to MyHeritage. So no surprise, at least not a good one. Too bad.

Previous Health Reports

Because I tested prior to the 23andMe run-in with the FDA, my previous health reports are archived in the “Reports Archive.” I must say that the new traits are, for the most part, simply cocktail party conversation as compared to what we received before, and for half the price of current testing.

V3 testers do not receive the “Carrier Status” report, and this is the only test that is offered today that is actually medical in nature.

I would strongly suggest that anyone who actually wants health information test at either Ancestry.com for $99 or Family Tree DNA for $79 and then upload their results file to Promethease for $5. You’ll get a lot more than the very abbreviated 23andMe V4 information that costs $199.

Notice 23andMe doesn’t call the current product(s) health reports, but “wellness reports.” I think this is borderline deceptive except perhaps for Carrier Status.

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Interestingly enough, both the Carrier Status and Traits reports under V4 require you to take an ethnicity survey before they show you your results, as does the Traits report under V3.

However, ethnicity is one of the things they are supposed to be telling you – in fact that’s one of the primary reasons people take these tests. So why do you have to tell them?

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Download your Raw Data

Do download your raw data. You can upload it to GedMatch, to Promethease or depending on when you tested (after V2 and before V4, in November 2013) you can upload the file to Family Tree DNA for $39 in lieu of the $79 Family Finder test. The raw data download option is now under “Tools” on the toolbar.

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You have to click on “I Understand” that you might discover sensitive health information about yourself or a family member.

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On the first page below where you see the title “Your Raw Data,” click on the blue download button.

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I encourage you to download your data while you are on the system, because it can be much, MUCH more difficult later, as I documented in this article.

Summary – Thumbs Down!!!!

As far as I’m concerned, there is nothing at 23andMe anymore for genealogists, especially when compared to the other testing companies, Family Tree DNA and Ancestry, who have both improved their offerings over the past several months.

23andMe provides fewer tools than they did previously to help genealogists identify their ancestors. As the other companies are making strides going forward, 23andMe is moving backwards.

23andMe doesn’t even provide anything as basic and simple as showing common surnames or a tree, both provided by Family Tree DNA and Ancestry. The new 23andMe interface is miserable and confusing, at best – for example – “sharing” which obviously doesn’t really mean sharing.  The new system is certainly not intuitive or written with a focus on genealogy, and their system times out horribly, outright fails and doesn’t work correctly with Internet Explorer on Windows 10. Many of the previous features used by genealogists have been obsoleted in this new version. Other than that, it’s wonderful (tongue firmly in cheek.)

As far as I’m concerned, genealogy testing at 23andMe is nothing more than a lure for 23andMe to obtain your DNA and answers to personal questions that are none of their business in order to utilize both for their own financial purposes.

Genealogists pulled 23andMe through the knothole by recommending them for testing when the FDA stopped 23andMe’s health testing. However, 23andMe, instead of enhancing their product for the genealogy market, has removed functionality, such as trees, Countries of Ancestry and full versus half identical segment identification – in essence stabbing genealogists in the back.

Both Family Tree DNA with their many tools and Ancestry, even without a chromosome browser, are both better choices. If it’s ethnicity testing you’re looking for, which is 23andMe’s strong point for genealogy, utilize either of the other vendors plus the many ethnicity (admixture) options at GedMatch.

The only person I would recommend 23andMe to now would be an adoptee looking for a very close match who did not find what they were looking for by testing with Family Tree DNA or Ancestry. In other words, I would only recommend 23andMe as a distant third and only in a pinch. For the normal genealogist, the other two vendors’ data bases and tools have become so large and robust that there just isn’t any reason to test at 23andMe.

I will continue to periodically check the 23andMe site, not for genealogy, but because I believe my father had additional children and I still have hopes of finding them or their children. I wish that 23andMe had implemented an option for notification of “immediate or close family” matches, but then again, they would have to be focused on genealogy in order to do that.

I have written one more article comparing the 23andMe V3 versus the V4 test matching and ethnicity, which holds some real surprises, but aside from publishing that article and an occasional check for my father’s possible offspring, I’m done with 23andMe, completely, entirely, finit, kaput, forever. I didn’t even bother to integrate my match file again in my DNA Master Spreadsheet. Downloading data with no corresponding ability to contact the tester (aside from the 23andMe message system on a website not functioning property), with an extremely low response rate, no trees and not even matching surnames isn’t fun, it’s simply frustrating.

23andMe is now far more work than pleasure and I’m simply done with them. As far as I’m concerned, they’ve had 3 years now to get their act together since the FDA issue…and they haven’t. The “new experience” has gotten worse, not better. The only positive aspect of the new experience is the new limit of 2000 matches, compared to no limit at the other vendors, open sharing, although there is still confusion surrounding that, and the fact that multiple profiles are now managed separately – thankfully. The other vendors have never been this unnecessarily complex relative to open sharing or multiple accounts, so they don’t have a corresponding mess to unravel.

There is a great irony here, because with 23andMe being the first vendor in the autosomal marketspace that was commercially viable could have owned the show, but they’ve blown it, over and over again. And they just blew it one last time.

I give the 23andMe “new experience” a big thumbs down.

How Much DNA Do We Share? It Depends

I was curious how testing the same two people at the 3 different vendors, then uploading the results from those different vendors to GedMatch and repeating the matching process there would affect the amount of DNA reported as matching.

I have a third cousin who has tested at all 3 labs independently, meaning they did not upload a file from either 23andMe or Ancestry to Family Tree DNA. Furthermore, they downloaded their 23andMe and Family Tree DNA files to GedMatch. They have not downloaded their Ancestry results to GedMatch, so I can’t do the Ancestry to Ancestry comparison, unfortunately.

So, we have one pair of third cousins, 3 individual vendor tests (each) and 8 independent answers to the question, “How much DNA do we share?”.

First, the theoretical expected average (as reported on the ISOGG wiki page) is 53 cM for third cousins. Blaine Bettinger’s actual findings through the shared cM project indicate an average of 79 cM for third cousins, and the actual range found is 0-198 cM, after removing outliers. This isn’t the first time in genetic genealogy that we’ve found that the theoretical or expected results aren’t what really happens as we learn more about how DNA actually works.

Let’s see how reality stacks up for our third cousin pair.

Vendor Threshold Total cM Total Segments Largest Segment Est Relationship
Theoretical 3C Average, Actual Average and Actual Range 53 ISOGG, 79 Actual, Range(0-198)
At Vendors
FTDNA 7cM/500 SNPs 149*** 22 33.52 2nd-3rd cousin
23andMe 7cM/700 SNPs 134 6 40.8 2nd-3rd cousin
Ancestry V1 5cM after Timber** 132 8 Not provided 3rd-4th cousin
At GedMatch
GedMatch 1* (23andMe V3 to 23andMe V3) 7cM/700 SNP 147 6 43.7 3.3 gen to MRCA****
GedMatch 2* (FTDNA to FTDNA) 7cM/700 SNP 136 6 43.7 3.4 gen to MRCA****
GedMatch 3* (23andMe V3 to FTDNA) 7cM/700 SNP 136 6 43.7 3.4 gen to MRCA****
GedMatch 4* (Ancestry V1 to 23andMe V3) 7cM/700 SNPs 147.5 6 43.7 3.3 gen to MRCA****
GedMatch 5* (Ancestry V1 to FTDNA) 7cM/700 SNPs 147.5 6 43.7 3.3 gen to MRCA****

Total cM is rounded except for 147.5, which doesn’t round in either direction.

*GedMatch at default setting which is currently 7cM and 700 SNPs.

**Unknown if SNPs are being utilized at Ancestry as a threshold parameter, and if so, the threshold is unknown.

***Total cM at Family Tree DNA includes small segments if you match. At 23andMe and GedMatch, total segments means only the total number of segments over the match threshold. The number at Family Tree DNA would be 112 cM if only counting segments greater than 5cM and 107 if only counting cM greater than 7. Of note, in my comparison, there no matching segments between 5.48 and 11.09, so this may be an unusual circumstance.

****The actual generations to a common recent ancestor (MRCA) is 4, counting our parents as generation 1.  It is unclear whether GedMatch counts you as generation 1 or your parents as generation 1.

Results like this are a perfect illustration of why relationship ranges based on DNA are ranges, not absolutes. I know, unquestionably that my cousin is my third cousin. However, were I to utilize ONLY the averages, I would be looking at either a 2nd cousin utilizing the theoretical numbers or a 2nd cousin once removed utilizing the real average, neither of which are accurate in this case.  Averages are made up of everyone in the range, smallest to largest – and in this case, the results fall into the larger than average category.

All of the Total cM numbers are two to three times the theoretical expected Total cM, but all of the Total cMs are still within the observed and reported range for third cousins.

For more on relationship ranges, theoretical expected versus actual and ranges as reported from crowd sourced information see here and here and here.

Blaine Bettinger provides a free download of his latest Shared cM Project results, which includes a great chart on the last page that provides a minimum, average and max cM shown for each relationship type. Thanks Blaine, for this very useful tool!

23andMe Reminder – V2 and V3 Customers – June 2 Last Day to Make Changes to Preserve Health Information

Some people have reported that they have not received an e-mail from 23andMe asking them to update their settings.

This e-mail would only pertain to people who tested before the v4 chip, so before the FDA shutdown in November of 2013.

My e-mail said that I only had until June 2 to make the changes to preserve my health information that was provided to customers before the shutdown.  The new information provided by 23andMe for the v4 chip since 23andMe and the FDA reached an agreement is different and only a subset of what former customers received.  23andMe is preserving the health reports of the earlier customers as downloadable pdf files but you MUST MAKE your selections soon and you will not be able to change those selections after the transition, and I’m assuming, in my case, not after June 2.  Some people reported that their e-mail said June 9th.

If you are uncertain whether or not you are one of the people involved in this transition, and you don’t know if you need to do anything, sign into your 23andMe account. If you see this blue banner at the top of your greeting page, you do indeed need to make these selections and verify your settings in order to preserve as much of your health information as you desire.  For example, if you have locked reports, you’ll need to unlock them or that information will forever be unavailable.

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The blue banner doesn’t provide you with the drop-dead date, but to be safe, assume it is June 2 and make your selections now.

Instructions for 23andMe Users Still on “Old Experience”

23andMe announced a transition to a “new experience” in October 2015 after their settlement with the FDA.   The transition included differing services and a web redesign, and began in early November, 2015 with completion promised by the end of the year.  Unfortunately, they never indicated which year.

Since that time, some accounts have been transitioned, but older accounts, meaning accounts that had tested prior to the issue with the FDA, remain on the “old experience,” with diminished functionality. In case you’re counting, that’s about 7 months.

Questions remained about what information would be provided to customers who tested prior to the FDA order that stopped 23andMe from providing customers with the health information, and whether or not those customers would be required to upgrade.

Earlier this week, 23andMe announced new tools for their “new experience accounts” which made those of us stuck in the “old experience” feel like even less valued customers, to say the least, and trust me, I’m being kind here.  One would think that 23andMe would have focused all of their efforts on transitioning all of their customers before providing new tools for some.

Today, I received this e-mail telling me that my account is scheduled to be transitioned by….wait for it….the end of….August. Yes, August, I think that’s August this year, although it’s important to note that they don’t specify a year.

This is Memorial Day weekend, so maybe by Labor Day. Seriously?  Wow…that’s service!

23andMe Transition

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23andMe Transition3

This e-mail does include valuable information regarding the results of the more robust health information that was provided to customers prior to the FDA shutdown that occurred in November 2013.  Our results will be available as a pdf file in an archive.  It’s important for legacy 23andMe users to note that selections made now will reflect what is actually archived and cannot be changed later.

You can read more detailed information here.

However, you must make your selections by June 2, 2016 in order for 23andMe to be able to transition your account by the end of August (no year indicated), so don’t delay. June 2 is only 6 days away.  If this makes you feel like “hurry up and wait,” you’re not alone.

Assuming 23andMe actually is able to comply with this promised transition date, that will be roughly 10 months from the beginning of the transition process, which was supposed to be complete 8 months ago. To put things in perspective, I could have gotten pregnant, gestated a full-term child and given birth in this amount of time. Just saying.

Beware The Sale of Your DNA – Just Because You Can Upload Doesn’t Mean You Should

You know something is coming of age when you begin to see knockoffs, opportunists – or ads on late night TV. As soon as someone figures out they can make money from something, rest assured, they will.

In the past few weeks, we’re beginning to see additional “opportunities” for places to upload your DNA files. Each of them has something to “give” you in return.  You can view this as genuine, or you can view this as bait – or maybe some of each.

So far, each of them also seems to have an agenda that is NOT serving us or our DNA – but serving only or primarily them. I’m not saying this is good or bad – that depends on your perspective – but I am saying that we need to be quite aware of a variety of factors before we participate or upload our autosomal DNA results.

Some sites are more straightforward than others.

I have already covered the fact that both 23andMe and Ancestry sell your DNA to whomever for whatever they see fit.

Truthfully, I always knew that 23andMe was focused on health, but I mistakenly presumed it was on the study of diseases like Parkinson’s. My mother was diagnosed with Parkinson’s, so I had a personal stake in that game.  When their very first patent was for “designer babies,” I felt shell-shocked, stupid, naïve, duped and taken advantage of. I had willingly opted-in and contributed my information with the idea that I was contributing to Parkinson’s research, while in reality, my DNA may have been used in the designer baby patent research.  I have no way of knowing and I had no idea that’s the type of research they were doing.

Parkinson’s yes, designer babies no.  It’s a personal decision, but once your DNA is being utilized or sold, it can be used for anything and you have no control whatsoever.  While I was perfectly willing to participate in surveys and have my DNA utilized for a cure for diseases, in particular Parkinson’s, I was not and am not willing for my DNA to be utilized for things like designer babies so the wealthy can select blue eyed, blonde haired children carrying the genes most likely to allow them to become athletes or cheerleaders.

And once the DNA cat is out of the bag, so to speak, there is no putting it back in. In some cases, you can opt out of identified data, but you can’t opt out of what has already been used, and in many cases, you can’t opt out of having your anonymized data sold.

So, let me give you an example of just how much protection anonymizing your data will give you.

Anonymized Data

Let’s say that someone in one of those unknown firms wants to know who I am. All they have to do is drop my results into GedMatch and my name is right there, along with my e-mail.

Have a fake name at Gedmatch? Well, think for a minute of the adoption search groups and how they identify people, sometimes very quickly and easily by their matches.  Everyday.

Not to mention, my children (and my parents, were they living) are very clearly identifiable utilizing my DNA. So while my DNA is mine, and legally belongs to me, it’s not entirely ONLY mine.

The promise of anonymized data by stripping out your identifying information has become somewhat of a hollow promise today. In a recent example, a cholesterol study volunteer recognized “herself” in a published paper, but was not notified of the results. In an earlier paper, several Y DNA volunteers were identified as well. Ironically, Dr. Erlich, now having formed DNA.Land and soliciting DNA uploads was involved with this unmasking.

Knowing what I know today, I would NEVER have tested at 23andMe and I would have to think very long and hard about Ancestry. The hook that Ancestry has, of course, is all of those DNA plus matching trees.  Is having my anonymized DNA sold worth that?  I don’t really know.  For me, it’s too late for an Ancestry decision, because I’ve already tested there and you cannot opt out of having your anonymized data sold.

I already had an Ancestry subscription, but some testers don’t realize they have to have at least a minimum level subscription to receive all of the benefits of testing at Ancestry. That could certainly be a rude awakening – and unexpected when they purchased the test.  The $49 DNA base subscription is not available on Ancestry’s website either – you have to know about it and call support to purchase that level.  I’m sure most people simply purchase the normal subscription or do without.

One thing is for sure, our DNA is worth a lot of money to both research and Big Pharm, and apparently worth a lot of effort as well, given how many people are attempting to capture our DNA for sale.

In the past few weeks, there have been several new sites that have come online relative to autosomal DNA uploading and testing.

But before we talk about those, I’d like to take a moment for education.

The Sanger Survey

Sanger survey

I’d like to suggest that you take a few minutes to view the videos associated with the Sanger Institute DNA survey here. I think the videos do a good job of explaining at least some of the issues facing people about the usage of their DNA.  Of course, you have to take their survey to see the videos at each step – but it’s good food for thought and they do allow you to make comments.

So, please, take a few minutes for this survey before proceeding.

Genes and US

One of the first “sidebar” companies to appear in September 2014 was at the site   http://www.genesand.us/ which is now nonfunctional.

I took screen shots at that time, since I was going to write an article about what seemed quite interesting.

Genesandus

It was a free service that offered to “find the best genes that you can give to your child.” You had to test at 23andMe, then upload both you and your partner’s raw DNA files and they would provide you with results.

I did just that, and the screen shot below shows the partial results. There were several pages.

Genesandus1

At the end of this section was a question asking if I wanted to “speak to a doctor about any of these benefits.” I didn’t, but I did want to know if gene selection was actual possible and being implemented.  I found the site’s contact information.  I sent this e-mail, which was never answered.

genesandus2

So let me ask you…where is my and my husband’s DNA today? I uploaded it.  Who has it?  Was this just a ploy to obtain our DNA files?  And for what purpose?  Who were these people anyway?  They are gone without a trace today.

DNA.Land

More recently, in the fall of 2015, DNA.Land came upon the scene.

As of today, 22,000+ people have uploaded their autosomal DNA files.

dna.land

What does DNA.Land offer the genealogist?

A different organization’s view of your ethnicity as well as relative matching to others who upload.

The quality and reliability of these enticements offered by companies in exchange for our DNA files may vary widely. For example, when DNA.Land launched, their matching routine didn’t find immediate family members.  No product should ever be launched in an alpha state, which calls into question the quality of the rest of their products and research.  That matching problem has reportedly been fixed.

The second enticement they offer is an ethnicity tool.

I can’t show you my example, because I have not uploaded my DNA to DNA.Land.   However, a genetic genealogy colleague conducted an interesting experiment.

TL Dixon uploaded four DNA files in late April 2016. He tested twice at 23andMe, both tests being the v3 version, and twice at Ancestry, in 2012 and 2014, and uploaded all 4 files to DNA.Land to see what the results would be, comparatively.

TL 23andMe test 1

23andMe v3 test 1

TL 23andme test 2

23andMe v3 test 2

TL Ancestry test 1 2014

Ancestry test from 2014

TL Ancestry test 2 2012

Ancestry test from 2012

We all know that ethnicity testing as a whole is not terribly reliable, but is the most reliable on the continent level, meaning Africa vs Europe vs Asia vs Native American. Given that these raw data files are from the same testing companies, on the same chip platform, for the same person, the Ancestry 2012 and 2014 ethnicity results from DNA.Land are quite different from each other relative to African vs Eurasian DNA, and also from the 23andMe results – even at the continent level.  Said another way, both 23andme results and the Ancestry 2014 results are very similar, with the Ancestry 2012 test, shown last, being the outlier.

Thanks to TL Dixon for both his multiple testing and sharing his results. According to TL’s known family history, the two 23andMe and the Ancestry 2014 kits are closest to accurate.  Just as an aside, TL, surprised by the differing results, utilized David Pike’s utilities to compare the two Ancestry files to see if one had a problem, and they were both very similar, so the difference does not appear to be in the Ancestry kits themselves – so the difference has to be at DNA.Land.

So, what I’m saying is that DNA.Land’s enticement of a different company’s view of ethnicity, even after several months, and even at the continent level, still needs work. This along with the original matching issue calls into question the quality of some of the enticements that are being used to attract DNA donors.  We should consider this not only at this site, but at others that provide enticement or “free” services or goodies as well.  Uploaders beware!

While the non-profit status of DNA.Land along with their verbiage leads people to believe that their work is entirely charitable, it is not, as reflected in this sentence from their consent information.

I understand that the research in this study may lead to new products, research tools, or inventions that have financial value. By accepting the terms of this consent, I understand that I will not be able to share in the profits from future commercialization of products developed from this study.

At least they are transparent about this, assuming you actually read all of the information provided on the site – which you should do with every site.

My Heritage Adds DNA Matching

This past week, My Heritage, a company headquartered in Israel, announced that it has added autosomal DNA matching. Some people think this is great, and others not so much.

MyHeritage

My Heritage, like Ancestry, is a subscription site. I happen to already be a member, so I was initially pretty excited about this, especially when I saw this in their blog.

Your DNA data will be kept private and secure on MyHeritage.

Our service will then match you to other people who share DNA with you: your relatives through a common ancestor. You will be able to review your matches’ family trees (excluding living people), and filter your matches by common surnames or geographies to focus on more relevant matches.

And also:

Who has access to the DNA data?

Only you do. Nobody else can see it, and nobody can even know that it was uploaded. Only the uploader can see the data, and you can delete it at any time. Users who are matched with your DNA will not have access to your DNA or your email address, but will be able to get in touch with you via MyHeritage.

I was thinking this might be a great opportunity, perhaps similar to the Ancestry trees, although they don’t say anything about tree matching.

However, their Terms of Service are not available to view unless you pretend to start an upload of your DNA (thanks for this tip Ann Turner) and then the “Terms of Service” and “Consent Agreement” links become available to view. They should be available for everyone BEFORE you start your upload.

On the MyHeritage main site, you’ll see DNA matching at the top. I’m a member, so, if you’re not a member, your “main site” may look different.

MyHeritage1

Click on “learn more” on the DNA Matching tab.

MyHeritage2

Step two shows you two boxes saying you have read the DNA Terms of Use and Consent Agreement. Don’t just click through these – read them.  Not just at this vendor, at all vendors.

In the required DNA Terms of Use we find this in the 5th paragraph:

By submitting DNA Results to the Website, you grant MyHeritage a perpetual, royalty-free, world-wide, transferable license to use your DNA Results, and any DNA Results you submit for any person from whom you obtained legal authorization as described in this Agreement, and to use, host, sublicense and distribute the resulting analysis to the extent and in the form or context we deem appropriate on or through any media or medium and with any technology or devices now known or hereafter developed or discovered.

And this in item 7:

c. We may transfer, lease, rent, sell, share and/or or otherwise distribute de-identified information to third parties for any purpose, including without limitation, internal business purposes. Whenever we transfer, lease, rent, sell, share and/or or otherwise distribute your information to third parties, this information will be aggregated and personal identifiers (such as names, birth dates, etc.) will be removed.

In the optional Informed Consent agreement, we find this:

The Project collects, preserves and analyzes genealogical lineage, historical records, surveys, genetic information, and other records (collectively, “Research Information“) provided by users in order to conduct research studies to better understand, among other things, human evolution and migration, population genetics, regional health issues, ethnographic diversity and boundaries, genealogy and the history of the human species. Researchers hope that the Project will be an invaluable tool for a wide range of scholars and researchers interested in genealogy, anthropology, evolution, languages, cultures, medicine, and other topics and that the Project may benefit future generations. Discoveries made as a result of the Project may be used in the study of genealogy, anthropology, population genetics, population health issues, cultures, trends (for example, to identify health risks or spread of certain diseases), and other related topics. If we or a third party wants to conduct a study (1) on topics unrelated to the Project, or (2) using Research Information beyond what is described in this Informed Consent, we will re-contact you to seek your specific approval. In addition, we may contact you to ask you to complete a questionnaire or to ask you if you are willing to be interviewed about the Project or other matters.

  1. What are the costs and will I receive compensation? MyHeritage will not charge participants any fees in order to be part of the Project. There will be no financial compensation paid to Project participants. The data you share with us for the Project may benefit researchers and others in the future. If any commercial product is developed as a result of the Project or its outcomes, there will be no financial benefit to you.

You can’t see the terms of use or consent agreement unless you are in the process of uploading your DNA and in addition, it appears that your DNA data is automatically available in anonymized fashion to third parties. The terms of service and informed consent data above does not seem to correlate with the marketing information which states that “nobody else” can see your data.

The other thing that’s NOT obvious, is that you don’t HAVE to click the box on the Consent Agreement, but you do HAVE to click the box on the DNA Terms of Use.

If you are not alright with the entirety of the DNA Terms of Use, which is required, do not upload your DNA file to My Heritage.  If you are not alright with the Consent Agreement, don’t click the box.  Judy Russel wrote an detailed article about the terms here.

Uploading your DNA to MyHeritage is free today, but may be a pay service later. It is unclear whether a subscription is required today, or will be in the future.  However, at one time one could upload a family tree of up to 250 people to MyHeritage for free through 23andMe.  Larger files were accepted, but were only free for a certain time period and now the person whose tree was larger than 250 people and who did not subscribe is locked out of their account.  They can’t delete their larger-than-250 person tree unless they purchase a subscription.  It’s unclear what the future holds for DNA uploads, trees and subscriptions as well.

I have not uploaded my DNA to MyHeritage either, based on 7c. It would appear that even if you don’t give consent for additional “research information” to be collected and provided, they can still sell your anonymized DNA.

WeGene

WeGene

Very recently, a new company, WeGene at http://www.wegene.com has begun DNA testing focused on the Chinese marketplace.

Their website it in Chinese, but Google translates it, at least nominally, as does Chrome.

WeGene1

WeGene2

It does not appear that WeGene does matching between their customers, or if they do, I’ve missed it in the translations.

You can, however, upload at least 23andMe files to WeGene. I can’t tell about Family Tree DNA and Ancestry files.  Unless you have direct and fairly recent Chinese ancestry, I don’t know what the benefit would be.

Their privacy and security, such as it is, is at this link, although obviously autotranslated. Some people seem to have found other verbiage as well.  Navigating their site, written in Chinese, is very difficult and the accuracy of the autotranslation is questionable, at best.

Their autosomal DNA file is obviously available for download, because GedMatch now accepts these files.

I am certainly not uploading my DNA to WeGene, for numerous reasons.

Vendor Summary

This vendor summary was more difficult to put together than I thought it would be – in part because I am not a new user at either Ancestry or 23andMe and obviously can’t see what a new user would see on any of my accounts. Furthermore, Ancestry in particular has several documents that refer back and forth to each other, and let’s just say they are written more for the legal mind than the typical consumer.

vendor summary

* – Both 23andMe and Ancestry appear to utilize all clients DNA for anonymized distribution, but not for identified distribution without an individual opt-in.

*1 – According to the 23andMe Privacy Policy, although you can opt in to the higher level of research testing where your identity is not removed, you cannot opt out of the anonymized level of DNA sharing/sale. Please review current 23andMe documentation before making a decision.

*2 – Can Opt in or Opt out.

*3 – Can opt out of non-anonymized sales, but not anonymized sales. Please verify utilizing the current Ancestry documents before making a decision.

*4 – DNA.land indicates that you can withdraw consent, but does not say anything about deleting your DNA file.

*5 – DNA.Land states in their consent agreement that they will not provide identified DNA information without first contacting you.

*6 – At 23andMe, deleting DNA from data base closes account.

*7 – Automatically opted in for anonymized sales/sharing, but must opt in for identified DNA sharing.

*8 – 23andMe has been and continues to experience significant difficulties and at this point are not considered a viable genetic genealogy option by many, or stated another way, they would be the last choice of the main three testing companies.

*9 – All legal action must be brought in Tel Aviv, Israel, individually, and not as a class action suit, according to item 9 in the DNA Terms of Use document.

*10 – Website in Chinese, information through an automated English translator, so the information provided here is necessarily incomplete and may not be entirely accurate.

Please note that any or all of these factors are subject to change over time and the vendors’ documents should be consulting and read thoroughly at the time any decision is being made.

Please note that at some vendors there are many different documents that cross-reference each other. They are confusing and should all be read before any decision is made.

And of course, some vendors’ websites aren’t even in English.

Points to Consider

While these companies are the ones that have come to the forefront in the past few months, there will assuredly be more as this industry develops. Here are a list of things for you to think about and points to consider that may help you make your decision about whether you want to either test or upload your autosomal DNA with any particular company.  After all, your autosomal DNA file does contain that obviously much-sought-after medical information.

First, always read every document on a vendor site that says anything like “Terms of Use,” “Security and Privacy” or “Terms of Service” or “Informed Consent.” Many times the fine print is spread throughout several documents that reference each other.  If their policy does not say specifically, do NOT assume.

Also be aware that the verbiage of most companies says they can change their rules of engagement at any time without notification.

Here are the questions you may want to consider as you read these documents.

  • Does the company or organization sell or share your data?
  • Is the data that is sold or shared anonymized or nonanonymized, understanding that really no one is truly anonymous anymore?
  • Who do they sell your data to?
  • For what purpose?
  • Do you have the opportunity to authorize your DNA’s involvement per study?
  • If you do not live in the same country as the company with whom you are doing business, what recourse do you have to enforce any agreement?
  • How do you feel about your DNA being in the hands of either organizations or companies you don’t know for purposes you don’t know?
  • Are you asked up front if you want to participate?
  • Can you opt out of your DNA being shared or sold entirely from the beginning?
  • Can you opt out of your DNA being shared or sold entirely at any time if you have initially opted in?
  • Do you receive the opportunity to opt in, or are you automatically opted in?
  • If you are automatically opted in, do you get the opportunity, right then, to opt out, or only if you happen to discover the situation? And if you can opt out immediately, are you only able to opt out of non-anonymized data or can you opt out entirely?
  • Is the company up front and transparent about what they are doing with your DNA or do you have to dig to unearth the truth?
  • If you already tested, and gave up rights, were you aware that you did so, and do you understand if or how you can rescind that inadvertent authorization?
  • Do you have to dig for the terms of service and are they as represented in the marketing literature?
  • Do you feel like you are giving truly informed consent and understand what can and will happened to your DNA, and what your options are if you change your mind, and how to exercise those options? Are you comfortable with those options and the approach of the company towards DNA sale as a whole? Were they forthright?
  • For companies like MyHeritage and Ancestry, are their other unknown “gotchas” like a subscription being required in addition to testing or uploading to obtain the full benefits of the test or upload?
  • What happens to your DNA if the company no longer exists or goes out of business? For two examples, look at the Sorenson and Ancestry Y and mtDNA DNA results. This is certainly not what any consumer or tester expected. Not to mention, I’m left wondering where my DNA submitted to genesandus is today.
  • Who owns the company?  What are their names?  Where can you find them?  What is the address of the company?  What does google have to say about the owners or management?  Linked-In?  Facebook?  If there is absolutely no history, that’s probably as damning as a bad history.  No one can exist today in a professional capacity and have no history.  Just saying.
  • Is the company acting in any way that would cause you not to trust them, their motives or agenda?  As my mother used to say, the best predictor of future behavior is past behavior.

Near and Dear to My Heart

I have family members who work in the medical field in various capacities. I also have family members who have or have had genetically heritable conditions and like everyone else, I would love to see those diseases cured.  My reticence to donate my DNA to whomever for whatever is not a result of being heartless.  It’s a function of wanting to be in control of who profits with/from my DNA and that of my family.

Let me share a personal story with you.

My brother died of cancer in 2012. He went for chemo treatments every two weeks, and before he could have his chemo treatment, he had to have bloodwork to assure that his system was able to handle the next dose of chemo.

If his white cell count was below a certain threshold, a shot of a drug called Neulasta was available to him to stimulate his body to increase the white blood cells. The shots were $8000 a piece.  And no, that is not a typo.  $8000!  His insurance did not cover the shots, because as far as they were concerned, he could just wait until his white cell numbers increased of their own accord and have the chemo then.  Of course, delaying the chemo decreased his chances of survival.

Over the course of his chemo, he had to have three of these $8000 shots. Fortunately, he did have the money to pay, although he did have to reschedule his appointment because he was required to bring a cashier’s check with the full payment in advance before the clinic would administer the shot.  After that, he simply carried an $8000 cashier’s check to each appointment, just in case.

I do not for one minute believe that those shots COST $8000 to manufacture, but I do believe that the pharmaceutical industry could, would and does CHARGE $8000 to desperate patients in order to continue the chemo that is their only hope of life. For those whose insurance pays, it’s entirely irrelevant. For those whose insurance does not pay, it’s a matter of life and death.  And yes, I’m equally as angry with the insurance company, but they aren’t the ones asking for me to do donate my DNA.

So, as for my DNA, no Big Pharm company will ever get their hands on it if there is ANYTHING I can do about it – although it’s probably too late now since I have tested with both 23andMe and Ancestry, who do not allow you to opt out entirely. I wish I had known before I tested.  At least I would have been giving informed consent, which was not the case.

Consequently, I want to know who is doing what with my DNA, so that I have the option of participating or not – and I want to know up front – and I don’t want it hidden in fine print with the company hoping I’ll just “click through” and never read the documentation. I don’t want it to be intentionally or unintentionally confusing, and I want unquestionable full disclosure – ahead of time.  Is that too much to ask?

My brother had the money for the shots, and he died anyway, but can you imagine being the family of someone who did not have $24,000?

And if you think for one minute that Big Pharm won’t do that, consider Turing Pharmaceuticals CEO Martin Shkreli, dubbed “the most hated man in America” in September 2015 for gouging patients dependent on a drug used for HIV and cancer treatment by raising the price from $13.50 per pill to $750 for the same pill, a 5,556% increase – because he could.

Medical research to cure disease I’m supportive of in terms of DNA donation, but not designer babies and not Big Pharm – and today there seems to be no way to separate the bad from the good or to determine who our DNA is being sold to for what purpose. Worse yet, some medical research is funded by Big Pharm, so it’s hard to determine which medical research is independent and which is not.

The companies selling our DNA and Big Pharm are the only people who stand to benefit financially from that arrangement – and they stand to benefit substantially from our contributions by encouraging us to “help science.” We’ll never know if a study our donated DNA was used for produced a new drug – and if it’s one we can’t afford, you can bet the pharmaceutical industry and manufacturers care not one whit that we were one of the people who donated our DNA so they could develop the drug we can’t afford.  If any industry should not be soliciting free DNA donations for research, Big Pharm is that industry with their jaw-dropping profits.

So, How Much is Our DNA Worth Anyway?

I don’t know, directly, but we can get some idea from the deal that 23andMe struck with pharmaceutical company Genentech, the US unit of Swiss drug company, Roche, in January 2015, as reported by Forbes.

Quoting now, directly from the Forbes article:

According to sources close to the deal, 23andMe is receiving an upfront payment from Genentech of $10 million, with further milestones of as much as $50 million. The deal is the first of ten 23andMe says it has signed with large pharmaceutical and biotech companies.

Such deals, which make use of the database created by customers who have bought 23andMe’s DNA test kits and donated their genetic and health data for research, could be a far more significant opportunity than 23andMe’s primary business of selling the DNA kits to consumers. Since it was founded in 2006, 23andMe has collected data from 800,000 customers and it sells its tests for $99 each. That means this single deal with one large drug company could generate almost as much revenue as doubling 23andMe’s customer base.

The article further says that the drug company was particularly interested in the 12,000 Parkinson’s patients and 1,300 of their parents and siblings who had provided family information. Ten million divided by 13,300 means Genentech were willing to pay $750 for each person’s DNA, out the door.  So the tester paid $99 or upwards, depending on when they tested – $1000 before September 2008 when the test dropped to $399, to 23andMe and then 23andMe made another $750 per kit from the tester’s donated DNA results.

And that’s before the additional $50 million and the other deals 23andMe and the other DNA-sellers have struck with Big Pharm. So yes indeed, our DNA is worth a lot.

It’s no wonder so many people are trying to trying to find a way to entice us to donate our results so they can sell them. In fact, it’s a wonder, and a testament to their integrity, that there is ANY company with access to our DNA results that isn’t selling them.  In fact, there are only two companies, plus the Genographic Project.

Who Doesn’t Share or Sell Your Autosomal DNA?

Of the major companies, organizations and sites, the only three, as best I can tell, that do not share or sell your autosomal DNA (or reserve the right to do so) and specifically state that they do not are National Geographic’s Genographic Project , Family Tree DNA and GedMatch.

Of those three, Family Tree DNA, a subsidiary of Gene by Gene is the only testing company and says the following:

Gene by Gene collects, processes, stores and shares your Personal Information in a responsible, transparent and secure environment that fosters our customers’ trust and confidence. To that end, Gene by Gene respects your privacy and will not sell or rent your Personal Information without your consent.

National Geographic utilizes Family Tree DNA for testing, and the worst thing I could find in their privacy policy is that they will share:

  • with other selected third parties so that they may send you promotional materials about goods and services that they offer. You have the opportunity to opt out of our sharing information about you as described below in the section entitled “Your Choices”;
  • in accordance with your consent.

Nothing problematic here.

Your Genographic DNA file is only uploadable to Family Tree DNA and Nat Geo does not accept uploaded data from other vendors.

GedMatch, which allows users to upload their raw data files from the major testing companies for comparison says the following:

It is our policy to never provide your genealogy, DNA information, or email address to 3rd parties, except as noted above.

Please refer to the entire documents from these organizations for details.

Serious genealogists have probably already uploaded to GedMatch and tested at or uploaded to Family Tree DNA as well, so people are unlikely to find new matches at new sites that aren’t already in one of these two places.

To Be Clear

I just want to make sure there is no confusion about which type of companies we’ve been referencing, and who is excluded, and why. The only companies or organizations this article applies to are those who have access to your raw data autosomal DNA file.  Those would be either the companies who test your autosomal DNA (National Geographic, Family Tree DNA, Ancestry and 23andMe in the US and WeGenes in China), or if you download your raw data file from those companies and upload it to another company, organization or location, as discussed in this article.  The companies and organizations discussed may not be the only firms or organizations to which you can upload your autosomal DNA file today, and assuredly, there will be more in the future.

The line in the sand is that autosomal DNA file. Not your Y DNA, not your mitochondrial DNA, not your match list – just that raw data file – that’s what contains your DNA information that the medical and pharmaceutical industry seeks and is willing to pay handsomely to obtain.

There are other companies and organizations that offer helpful tools for autosomal DNA analysis and tree integration, but you do NOT upload your raw data file to those sites. Those sites would include sites like www.dnagedcom.com and www.wikitree.com. I want to be sure no one confuses sites that do NOT upload or solicit the upload of your raw autosomal DNA files with those that do.  I have not discussed these sites that do not upload your autosomal DNA files because they are not relevant to this discussion.

This article does not pertain to sites that do not utilize or have access to your autosomal raw data file – only those that do.

Summary

As the number of DNA testing consumers rises, the number of potential targets for DNA sales into the medical/pharmaceutical field rises equally, as does the number of targets for scammers.

Along with that, I increasingly feel like my ancestors and the data available through my DNA about my ancestors, specifically ethnicity since everyone seems to be looking for a better answer, is being used as bait to obtain my DNA for companies with a hidden, or less than obvious, agenda – that being to obtain my DNA for subsequent sale.

I greatly appreciate the Genographic Project, Family Tree DNA and GedMatch, the organizations who either test or accept autosomal file uploads do not sell my DNA, and I hope that they are not forced into that position economically in order to survive. It’s quite obvious that there is significant money to be made from the sale of massive amounts of DNA to the medical and pharmaceutical communities.  They alone have resisted that temptation and stayed true to the cause of the study of indigenous cultures and population genetics in the case of Nat Geo, and genetic genealogy, and only genetic genealogy in the case of Family Tree DNA and GedMatch.

In other words, just because you can doesn’t mean you should.

Frankly, I believe selling our data is fundamentally wrong unless that information is abundantly clear, as in truly informed consent as defined by the Office for Human Research Protections, in advance of purchasing (or uploading) the test, and not simply a required “click through box” that says you read something. I would be much more likely to participate in anything that was straightforward rather than something that was hidden or not straightforward, like perhaps the company or organization was hoping we wouldn’t notice, or we would automatically click the box without reading further, thinking we have no other option.

The notice needs to say something on the order of, “I understand that my DNA is going to be sold, may be used for profit making ventures, and I cannot opt out if I order this DNA test,” if that is the case. That is truly informed consent – not a check box that says “I have read the Consent Document.”

Yes, the companies that sell DNA testing and our DNA results would probably receive far fewer orders, but those who would order would be truly informed and giving informed consent. Today, in the large majority of cases, I don’t believe that’s happening.

We need to be aware as consumers and make informed decisions. I’m not telling you whether you should or should not utilize these various companies and sites, or whether you should or should not participate in contributing your DNA to research, or at which level, if at all. That is a personal decision we all have to make.

But I will tell you that I think you need to educate yourself and be aware of these trends and issues in the industry so you can make a truly informed decision each and every time you consider sharing your DNA. And you should know that in some cases, your DNA is being sold and there is absolutely nothing you can do about if it you utilize the services of that company.

Above all, read all of the fine print.

Let me say that again, channeling my best Judy Russell voice.

ALWAYS, READ ALL OF THE FINE PRINT!!!

ALWAYS.
READ.
ALL.
OF.
THE.
FINE.
PRINT.

Unfortunately, things are not always as they seem on the surface.

If you see a click-through box, a red neon danger light should now start flashing in your brain and refuse to allow you to click on that box until you’ve done what? Read all the fine print.

There really is no such thing as a free lunch – so be judiciously suspicious.

I will leave you with the same thought relative to testing companies and upload opportunities that I said about companies selling our data. Just because you can doesn’t mean you should.

I think early in this game we all got excited and presumed the best about the motives of companies and organizations, like I did with both 23andMe and genesandus, but now we know better – and that there may be more to the story than initially meets the eye.

And besides that, we all know that presume is the first cousin to assume…and well, we all know where this is going.  And by the way, that’s exactly how I feel about genesandus who disappeared with my and my husband’s DNA.  I wasn’t nearly suspicious or judicious enough then…but I am now.

Closing Up Shop at 23andMe and the Trap

How could a DNA testing company be more unfriendly towards genealogists? I don’t know, but if you can think of something, I’m sure 23andMe will implement it.

23andMe has always been the “difficult” company to deal with, adding layers upon confusing layers of authorizations and requests to communicate and share DNA matching results, but the last few months, as far as I’m concerned have put lots of nails in their coffin.

Recently, the final nail went in.

The “upgrade,” and I use that term very loosely, began months ago at 23andMe amid something akin to a meltdown.  Four months later, nothing has improved.  None of the accounts that I manage have been transferred to the new format, communications have been nil and needless to say, any genealogical work has died on the vine for lack of water.

The transition that was supposed to be done by year end isn’t, and no word from 23andMe.

I’ve decided that with the other two testing companies, meaning Family Tree DNA and Ancestry, combined with GedMatch, that I really don’t need the hassles and frustrations inherent in 23andMe anymore.  This is, after all, supposed to be fun.

I signed on at 23andMe to clean up one of my accounts in preparation for deleting it.  The reason I was going to delete my kit is because you cannot opt out of their research entirely, and I didn’t want to simply abandon the kit at 23andMe, allowing their continued use but giving up on my end due to their decisions and business practices relative to genetic genealogy.

So, I signed in like normal, using the e-mail account that I used for this kit as my user ID and then my password.

23andme signin

Little did I know the trap 23andMe has set, but I soon found out.

I decided to check matches one last time and download the V2 data file.  I don’t ever expect to need this data, but just in case.  So I started by downloading the raw data.

In order to download a raw data file, first you have to find the option, hidden under the the drop downs, under your name, under “browse raw data.”

23andMe browse raw data

When you click on the download option, you then have to re-enter your password (hint, you could not be at this screen had you not already entered your password correctly) and then you also have to answer a secret question.

23andMe secret question

Apparently you need to be “extra protected” against yourself and downloading your own raw data.

But next comes the trap.

The Trap

Apparently 23andMe has implemented some sort of “internal timer” and if you haven’t signed in for awhile, they refuse to allow you access to your data, even AFTER you have signed in with the correct e-mail and password, then entered your password again, then entered your secret answer correctly. That’s 4 times you’ve authenticated that you are you – but that is apparently not good enough.

They insisted on sending an e-mail to my e-mail account to verify access. Well, I hate to tell you, but I abandoned that e-mail account long ago.  But there was no reason to change the login at 23andMe to something different because the person who initially took this test is no longer interested in the results and hasn’t been in quite some time.

23andMe confirm e-mail

So I clicked on “send the verification” because I had no choice, hoping that perhaps I could then go and recover the password for that old e-mail account and sign in to that old account just long enough to verify the password. No such luck.

23andme not receiving e-mail

So, the next day, I decided to sign in to 23andMe again to see if I could somehow figure out how to change the e-mail to my current e-mail, but now I’m effectively locked out of my own account until the verification comes back…which of course it never will because it was sent to the old e-mail address that I couldn’t recover.

I clicked on the option for “not receiving the confirmation e-mails.”

23andme reset e-mail

Great – it gave me the option of resetting the e-mail. I entered my current e-mail, which is the same e-mail for the rest of the accounts I manage and received this lovely error message.

23andMe e-mail in use

I can’t use my current e-mail because it’s already in use. It’s already in use because I manage other kits at 23andMe.  And around and around we go.

In order to overcome this obstacle 23andMe has put in the road, I would have to go to a service where I don’t have an e-mail account and create one just to let 23andMe send me a confirmation e-mail so that I can access my account. Really?

So, let me get this right. 23andMe still has the DNA, is still selling and using the DNA with impunity and will forever unless I delete this kit, but I can’t have account access after entering 4 different security challenges correctly plus a new valid e-mail account?  Seriously?  And they somehow think this is acceptable?

Well, all I can say is that it’s a good thing I was already closing up shop at 23andMe, because this is the very last nail in that coffin. They couldn’t make this experience more difficult or painful if they tried.

I absolutely refuse to let them win.  They are not going to gain unfettered permanent access to this DNA because they’ve made it too difficult for me to access.  This overly aggressive “security” is nothing more than a way to exclude legitimate access and retain what they really wanted in the first place, your DNA to utilize and sell.  If you can’t gain access, you can’t opt out of research, as much as one can opt out at 23andMe, and you can’t delete your kit.  This is somehow poetic injustice at its worst.  In other words, yes, it’s a very effective exclusionary trap.

So, I did in fact set up a new e-mail account, and I did confirm the e-mail address, and now I’ll set about deleting the account.  We’ll see how that goes.

Goodbye 23andMe, forever. My only regret is that I waited so long to leave – kind of like a bad marriage.

Ethnicity Testing – A Conundrum

Ethnicity results from DNA testing.  Fascinating.  Intriguing.  Frustrating.  Exciting.  Fun. Challenging.  Mysterious.  Enlightening.  And sometimes wrong.  These descriptions all fit.  Welcome to your personal conundrum!  The riddle of you!  If you’d like to understand why your ethnicity results might not have been what you expected, read on!

Today, about 50% of the people taking autosomal DNA tests purchase them for the ethnicity results. Ironically, that’s the least reliable aspect of DNA testing – but apparently somebody’s ad campaigns have been very effective.  After all, humans are curious creatures and inquiring minds want to know.  Who am I anyway?

I think a lot of people who aren’t necessarily interested in genealogy per se are interested in discovering their ethnic mix – and maybe for some it will be a doorway to more traditional genealogy because it will fan the flame of curiosity.

Given the increase in testing for ethnicity alone, I’m seeing a huge increase in people who are both confused by and disappointed in their results. And of course, there are a few who are thrilled, trading their lederhosen for a kilt because of their new discovery.  To put it gently, they might be a little premature in their celebration.

A lot of whether you’re happy or unhappy has to do with why you tested, your experience level and your expectations.

So, for all of you who could write an e-mail similar to this one that I received – this article is for you:

“I received my ethnicity results and I’m surprised and confused. I’m half German yet my ethnicity shows I’m from the British Isles and Scandinavia.  Then I tested my parents and their results don’t even resemble mine, nor are they accurate.  I should be roughly half of what they are, and based on the ethnicity report, it looks like I’m totally unrelated.  I realize my ethnicity is not just a matter of dividing my parents results by half, but we’re not even in the same countries.  How can I be from where they aren’t? How can I have significantly more, almost double, the Scandinavian DNA that they do combined?  And yes, I match them autosomally as a child so there is no question of paternity.”

Do not, and I repeat, DO NOT, trade in your lederhosen for a kilt just yet.

lederhosen kilt

Lederhosen – By The original uploader was Aquajazz at German Wikipedia – Transferred from de.wikipedia to Commons., CC BY-SA 2.0 de, https://commons.wikimedia.org/w/index.php?curid=2746036 Kilt – By Jongleur100 – Own work, Public Domain, https://commons.wikimedia.org/w/index.php?curid=7917180

This technology is not really ripe yet for that level of confidence except perhaps at the continent level and for people with Jewish heritage.

  1. In determining majority ethnicity at the continent level, these tests are quite accurate, but then you can determine the same thing by looking in the mirror.  I’m primarily of European heritage.  I can see that easily and don’t need a DNA test for that information.
  2. When comparing between continental ethnicity, meaning sorting African from European from Asian from Native American, these tests are relatively accurate, meaning there is sometimes a little bit of overlap, but not much.  I’m between 4 and 5% Native American and African – which I can’t see in the mirror – but some of these tests can.
  3. When dealing with intra-continent ethnicity – meaning Europe in particular, comparing one country or region to another, these tests are not reliable and in some cases, appear to be outright wrong. The exception here is Ashkenazi Jewish results which are generally quite accurate, especially at higher levels.

There are times when you seem to have too much of a particular ethnicity, and times when you seem to have too little.

Aside from the obvious adoption, misattributed parent or the oral history simply being wrong, the next question is why.

Ok, Why?

So glad you asked!

Part of why has to do with actual population mixing. Think about the history of Europe.  In fact, let’s just look at Germany.  Wiki provides a nice summary timeline.  Take a look, because you’ll see that the overarching theme is warfare and instability.  The borders changed, the rulers changed, invasions happened, and most importantly, the population changed.

Let’s just look at one event. The Thirty Years War (1618-1648) devastated the population, wiped out large portions of the countryside entirely, to the point that after its conclusion, parts of Germany were entirely depopulated for years.  The rulers invited people from other parts of Europe to come, settle and farm.  And they did just that.  Hear those words, other parts of Europe.

My ancestors found in the later 1600s along the Rhine near Speyer and Mannheim were some of those settlers, from Switzerland. Where were they from before Switzerland, before records?  We don’t know and we wouldn’t even know that much were it not for the early church records.

So, who are the Germans?

Who or where is the reference population that you would use to represent Germans?

If you match against a “German” population today, what does that mean, exactly? Who are you really matching?

Now think about who settled the British Isles.

Where did those people come from and who were they?

Well, the Anglo-Saxon people were comprised of Germanic tribes, the Angles and the Saxons.  Is it any wonder that if your heritage is German you’re going to be matching some people from the British Isles and vice versa?

Anglo-Saxons weren’t the only people who settled in the British Isles. There were Vikings from Scandinavia and the Normans from France who were themselves “Norsemen” aka from the same stock as the Vikings.

See the swirl and the admixture? Is there any wonder that European intracontinental admixture is so confusing and perplexing today?

Reference Populations

The second challenge is obtaining valid and adequate reference populations.

Each company that offers ethnicity tests assembles a group of reference populations against which they compare your results to put you into a bucket or buckets.

Except, it’s not quite that easy.

When comparing highly disparate populations, meaning those whose common ancestor was tens of thousands of years ago, you can find significant differences in their DNA. Think the four major continental areas here – Africa, Europe, Asia, the Americas.

Major, unquestionable differences are much easier to discern and interpret.

However, within population groups, think Europe here, it is much more difficult.

To begin with, we don’t have much (if any) ancient DNA to compare to. So we don’t know what the Germanic, French, Norwegian, Scottish or Italian populations looked like in, let’s say, the year 1000.

We don’t know what they looked like in the year 500, or 2000BC either and based on what we do know about warfare and the movement of people within Europe, those populations in the same location could genetically look entirely different at different points in history. Think before and after The 30 Years War.

population admixture

By User:MapMaster – Own work, CC BY-SA 2.5, https://commons.wikimedia.org/w/index.php?curid=1234669

As an example, consider the population of Hungary and the Slavic portion of Germany before and after the Mongol invasion of Europe in the 13th century and Hun invasions that occurred between the 1st and 5th centuries.  The invaders DNA didn’t go away, it became part of the local population and we find it in descendants today.  But how do we know it’s Hunnic and not “German,” whatever German used to be, or Hungarian, or Norse?

That’s what we do know.

Now, think about how much we don’t know. There is no reason to believe the admixture and intermixing of populations on any other continent that was inhabited was any different.  People will be people.  They have wars, they migrate, they fight with each other and they produce offspring.

We are one big mixing bowl.

Software

A third challenge faced in determining ethnicity is how to calculate and interpret matching.

Population based matching is what is known as “best fit.”  This means that with few exceptions, such as some D9S919 values (Native American), the Duffy Null Allele (African) and Neanderthal not being found in African populations, all of the DNA sequences used for ethnicity matching are found in almost all populations worldwide, just at differing frequencies.

So assigning a specific “ethnicity” to you is a matter of finding the best fit – in other words which population you match at the highest frequency for the combined segments being measured.

Let’s say that the company you’re using has 50 people from each “grouping” that they are using for buckets.

A bucket is something you’ll be assigned to. Buckets sometimes resemble modern-day countries, but most often the testing companies try to be less boundary aligned and more population group aligned – like British Isles, or Eastern European, for example.

Ethnic regions

How does one decide which “country” goes where? That’s up to the company involved.  As a consumer, you need to read what the company publishes about their reference populations and their bucket assignment methodology.

ethnic country

For example, one company groups the Czech Republic and Poland in with Western Europe and another groups them primarily with Eastern Europe but partly in Western Europe and a third puts Poland in Eastern Europe and doesn’t say where they group The Czech Republic. None of these are inherently right are wrong – just understand that they are different and you’re not necessarily comparing apples to apples.

Two Strands of DNA

In the past, we’ve discussed the fact that you have two strands of DNA and they don’t come with a Mom side, a Dad side, no zipper and no instructions that tell you which is Mom’s and which is Dad’s.  Not fair – but it’s what we have to work with.

When you match someone because your DNA is zigzagging back and forth between Mom’s and Dad’s DNA sides, that’s called identical by chance.

It’s certainly possible that the same thing can happen in population genetics – where two strands when combined “look like” and match to a population reference sample, by chance.

pop ref 3

In the example above, you can see that you received all As from Mom and all Cs from Dad, and the reference population matches the As and Cs by zigzagging back and forth between your parents.  In this case, your DNA would match that particular reference population, but your parents would not.  The matching is technically accurate, it’s just that the results aren’t relevant because you match by chance and not because you have an ancestor from that reference population.

Finding The Right Bucket

Our DNA, as humans, is more than 99.% the same.  The differences are where mutations have occurred that allow population groups and individuals to look different from one another and other minor differences.  Understanding the degree of similarity makes the concept of “race” a bit outdated.

For genetic genealogy, it’s those differences we seek, both on a population level for ethnicity testing and on a personal level for identifying our ancestors based on who else our autosomal DNA matches who also has those same ancestors.

Let’s look at those differences that have occurred within population groups.

Let’s say that one particular sequence of your DNA is found in the following “bucket” groups in the following percentages:

  • Germany – 50%
  • British Isles – 25%
  • Scandinavian – 10%

What do you do with that? It’s the same DNA segment found in all of the populations.  As a company, do you assume German because it’s where the largest reference population is found?

And who are the Germans anyway?

Does all German DNA look alike? We already know the answer to that.

Are multiple ancestors contributing German ancestry from long ago, or are they German today or just a generation or two back in time?

And do you put this person in just the German bucket, or in the other buckets too, just at lower frequencies.  After all, buckets are cumulative in terms of figuring out your ethnicity.

If there isn’t a reference population, then the software of course can’t match to that population and moves to find the “next best fit.”  Keep in mind too that some of these reference populations are very small and may not represent the range of genetic diversity found within the entire region they represent.

If your ancestors are Hungarian today, they may find themselves in a bucket entirely unrelated to Hungary if a Hungarian reference population isn’t available AND/OR if a reference population is available but it’s not relevant to your ancestry from your part of Hungary.

If you’d like a contemporary example to equate to this, just think of a major American city today and the ethnic neighborhoods. In Detroit, if someone went to the ethnic Polish neighborhood and took 50 samples, would that be reflective of all of Detroit?  How about the Italian neighborhood?  The German neighborhood?  You get the drift.  None of those are reflective of Detroit, or of Michigan or even of the US.  And if you don’t KNOW that you have a biased sample, the only “matches” you’ll receive are Polish matches and you’ll have no way to understand the results in context.

Furthermore, that ethnic neighborhood 50 or 100 years earlier or later in time might not be comprised of that ethnic group at all.

Based on this example, you might be trading in your lederhosen for a pierogi or a Paczki, which are both wonderful, but entirely irrelevant to you.

paczki

Real Life Examples

Probably the best example I can think of to illustrate this phenomenon is that at least a portion of the Germanic population and the Native American population both originated in a common population in central northern Asia.  That Asiatic population migrated both to Europe to the west and eventually, to the Americas via an eastern route through Beringia.  Today, as a result of that common population foundation, some Germanic people show trace amounts of “Native American” DNA.  Is it actually from a Native American?  Clearly not, based on the fact that these people nor their ancestors have ever set foot in the Americas nor are they coastal.  However, the common genetic “signature” remains today and is occasionally detected in Germanic and eastern European people.

If you’re saying, “no, not possible,” remember for a minute that everyone in Europe carries some Neanderthal DNA from a population believed to be “extinct” now for between 25,000 and 40,000 years, depending on whose estimates you use and how you measure “extinct.”  Neanderthal aren’t extinct, they have evolved into us.  They assimilated, whether by choice or force is unknown, but the fact remains that they did because they are a forever part of Europeans, most Asians and yes, Native Americans today.

Back to You

So how can you judge the relevance or accuracy of this information aside from looking in the mirror?

Because I have been a genealogist for decades now, I have an extensive pedigree chart that I can use to judge the ethnicity predictions relatively accurately. I created an “expected” set of percentages here and then compared them to my real results from the testing companies.  This paper details the process I used.  You can easily do the same thing.

Part of how happy or unhappy you will be is based on your goals and expectations for ethnicity testing. If you want a definitive black and white, 100% accurate answer, you’re probably going to be unhappy, or you’ll be happy only because you don’t know enough about the topic to know you should be unhappy.  If you test with only one company, accept their results as gospel and go merrily on your way, you’ll never know that had you tested elsewhere, you’d probably have received a somewhat different answer.

If you’re scratching your head, wondering which one is right, join the party.  Perhaps, except for obvious outliers, they are all right.

If you know your pedigree pretty well and you’re testing for general interest, then you’ll be fine because you have a measuring stick against which to evaluate the results.

I found it fun to test with all 4 vendors, meaning Family Tree DNA, 23andMe and Ancestry along with the Genographic project and compare their results.

In my case, I was specifically interesting in ascertaining minority admixture and determining which line or lines it descended from. This means both Native American and African.

You can do this too and then download your results to www.gedmatch.com and utilize their admixture utilities.

GedMatch admix menu

At GedMatch, there are several versions of various contributed admixture/ethnicity tools for you to use. The authors of these tools have in essence done the same thing the testing companies have done – compiled reference populations of their choosing and compare your results in a specific manner as determined by the software written by that author.  They all vary.  They are free.  Your mileage can and will vary too!

By comparing the results, you can clearly see the effects of including or omitting specific populations. You’ll come away wondering how they could all be measuring the same you, but it’s an incredibly eye-opening experience.

The Exceptions and Minority Ancestry

You know, there is always an exception to every rule and this is no exception to the exception rule. (Sorry, I couldn’t resist.)

By and large, the majority continental ancestry will be the most accurate, but it’s the minority ancestry many testers are seeking.  That which we cannot see in the mirror and may be obscured in written records as well, if any records existed at all.

Let me say very clearly that when you are looking for minority ancestry, the lack of that ancestry appearing in these tests does NOT prove that it doesn’t exist. You can’t prove a negative.  It may mean that it’s just too far back in time to show, or that the DNA in that bucket has “washed out” of your line, or that we just don’t recognize enough of that kind of DNA today because we need a larger reference population.  These tests will improve with time and all 3 major vendors update the results of those who tested with them when they have new releases of their ethnicity software.

Think about it – who is 100% Native American today that we can use as a reference population?  Are Native people from North and South American the same genetically?  And let’s not forget the tribes in the US do not view DNA testing favorably.  To say we have challenges understanding the genetic makeup and migrations of the Native population is an understatement – yet those are the answers so many people seek.

Aside from obtaining more reference samples, what are the challenges?

There are two factors at play.

Recombination – the “Washing Out” Factor

First, your DNA is divided in half with every generation, meaning that you will, on the average, inherit roughly half of the DNA of your ancestors.  Now in reality, half is an average and it doesn’t always work that way.  You may inherit an entire segment of an ancestor’s DNA, or none at all, instead of half.

I’ve graphed the “washing out factor” below and you can see that within a few generations, if you have only one Native or African ancestor, their DNA is found in such small percentages, assuming a 50% inheritance or recombination rate, that it won’t be found above 1% which is the threshold used by most testing companies.

Wash out factor 2

Therefore, the ethnicity of any ancestor born 7 generations ago, or before about 1780 may not be detectable.  This is why the testing companies say these tests are effective to about the rough threshold of 5 or 6 generations.  In reality, there is no line in the sand.  If you have received more than 50% of that ancestor’s DNA, or a particularly large segment, it may be detectable at further distances.  If you received less, it may be undetectable at closer distances.  It’s the roll of the DNA dice in every generation between them and you.  This is also why it’s important to test parents and other family members – they may well have received DNA that you didn’t that helps to illuminate your ancestry.

Recombination – Population Admixture – the “Keeping In” Factor

The second factor at play here is population admixture which works exactly the opposite of the “washing out” factor. It’s the “keeping in” factor.  While recombination, the “washing out” factor, removes DNA in every generation, the population admixture “keeping in” factor makes sure that ancestral DNA stays in the mix. So yes, those two natural factors are kind of working at cross purposes and you can rest assured that both are at play in your DNA at some level.  Kind of a mean trick of nature isn’t it!

The population admixture factor, known as IBP, or identical by population, happens when identical DNA is found in an entire or a large population segment – which is exactly what ethnicity software is looking for – but the problem is that when you’re measuring the expected amount of DNA in your pedigree chart, you have no idea how to allow for endogamy and population based admixture from the past.

Endogamy IBP

This example shows that both Mom and Dad have the exact same DNA, because at these locations, that’s what this endogamous population carries.  Therefore the child carries this DNA too, because there isn’t any other DNA to inherit.  The ethnicity software looks for this matching string and equates it to this particular population.

Like Neanderthal DNA, population based admixture doesn’t really divide or wash out, because it’s found in the majority of that particular population and as long as that population is marrying within itself, those segments are preserved forever and just get passed around and around – because it’s the same DNA segment and most of the population carries it.

This is why Ashkenazi Jewish people have so many autosomal matches – they all descend from a common founding population and did not marry outside of the Jewish community.  This is also why a few contemporary living people with Native American heritage match the ancient Anzick Child at levels we would expect to see in genealogically related people within a few generations.

Small amounts of admixture, especially unexpected admixture, should be taken with a grain of salt. It could be noise or in the case of someone with both Native American and Germanic or Eastern European heritage, “Native American” could actually be Germanic in terms of who you inherited that segment from.

Have unexpected small percentages of Middle Eastern ethnic results?  Remember, the Mesolithic and Neolithic farmer expansion arrived in Europe from the Middle East some 7,000 – 12,000 years ago.  If Europeans and Asians can carry Neanderthal DNA from 25,000-45,000 years ago, there is no reason why you couldn’t match a Middle Eastern population in small amounts from 3,000, 7,000 or 12,000 years ago for the same historic reasons.

The Middle East is the supreme continental mixing bowl as well, the only location worldwide where historically we see Asian, European and African DNA intermixed in the same location.

Best stated, we just don’t know why you might carry small amounts of unexplained regional ethnic DNA.  There are several possibilities that include an inadequate population reference base, an inadequate understanding of population migration, quirks in matching software, identical segments by chance, noise, or real ancient or more modern DNA from a population group of your ancestors.

Using Minority Admixture to Your Advantage

Having said that, in my case and in the cases of others who have been willing to do the work, you can sometimes track specific admixture to specific ancestors using a combination of ethnicity testing and triangulation.

You cannot do this at Ancestry because they don’t give you ANY segment information.

Family Tree DNA and 23andMe both provide you with segment information, but not for ethnicity ranges without utilizing additional tools.

The easiest approach, by far, is to download your autosomal results to GedMatch and utilize their tools to determine the segment ranges of your minority admixture segments, then utilize that information to see which of your matches on that segment also have the same minority admixture on that same chromosome segment.

I wrote a several-part series detailing how I did this, called The Autosomal Me.

Let me sum the process up thus. I expected my largest Native segments to be on my father’s side.  They weren’t.  In fact, they were from my mother’s Acadian lines, probably because endogamy maintained (“kept in”) those Native segments in that population group for generations.  Thank you endogamy, aka, IBP, identical by population.

I made this discovery by discerning that my specifically identified Native segments matched my mother’s segments, also identified as Native, in exactly the same location, so I had obviously received those Native segments from her. Continuing to compare those segments and looking at GedMatch to see which of our cousins also had a match (to us) in that region pointed me to which ancestral line the Native segment had descended from.  Mitochondrial and Y DNA testing of those Acadian lines confirmed the Native ancestors.

That’s A Lot of Work!!!

Yes, it was, but well, well worth it.

This would be a good time to mention that I couldn’t have proven those connections without the cooperation of several cousins who agreed to test along with cousins I found because they tested, combined with the Mothers of Acadia and the AmerIndian Ancestry out of Acadia projects hosted by Family Tree DNA and the tools at GedMatch.  I am forever grateful to all those people because without the sharing and cooperation that occurs, we couldn’t do genetic genealogy at all.

If you want to be amused and perhaps trade your lederhosen for a kilt, then you can just take ethnicity results at face value.  If you’re reading this article, I’m guessing you’re already questioning “face value” or have noticed “discrepancies.”

Ethnicity results do make good cocktail party conversation, especially if you’re wearing either lederhosen or a kilt.  I’m thinking you could even wear lederhosen under your kilt……

If you want to be a bit more of an educated consumer, you can compare your known genealogy to ethnicity results to judge for yourself how close to reality they might be. However, you can never really know the effects of early population movements – except you can pretty well say that if you have 25% Scandinavian – you had better have a Scandinavian grandparent.  3% Scandinavian is another matter entirely.

If you’re saying to yourself, “this is part interpretive art and part science,” you’d be right.

If you want to take a really deep dive, and you carry significantly mixed ethnicity, such that it’s quite distinct from your other ancestry – meaning the four continents once again, you can work a little harder to track your ethnic segments back in time. So, if you have a European grandparent, an Asian grandparent, an African grandparent and a Native American grandparent – not only do you have an amazing and rich genealogy – you are the most lucky genetic genealogist I know, because you’ll pretty well know if your ethnicity results are accurate and your matches will easily fall into the correct family lines!

For some of us, utilizing the results of ethnicity testing for minority admixture combined with other tools is the only prayer we will ever have of finding our non-European ancestors.  If you fall into this group, that is an extremely powerful and compelling statement and represents the holy grail of both genealogy and genetic genealogy.

Let’s Talk About Scandinavia

We’ve talked about minority admixture and cases when we have too little DNA or unexpected small segments of DNA, but sometimes we have what appears to be too much.  Often, that happens in Scandinavia, although far more often with one company than the other two.  However, in my case, we have the perfect example of an unsolvable mystery introduced by ethnicity testing and of course, it involves Scandinavia.

23andMe, Ancestry and Family Tree DNA show me at 8%, 10% and 12% Scandinavian, respectively, which is simply mystifying. That’s a lot to be “just noise.”  That amount is in the great-grandparent or third generation range at 12.5%, but I don’t have anyone that qualifies, anyplace in my pedigree chart, as far back as I can go.  I have all of my ancestors identified and three-quarters (yellow) confirmed via DNA through the 6th generation, shown below.

The unconfirmed groups (uncolored) are genealogically confirmed via church and other records, just not genetically confirmed.  They are Dutch and German, respectively, and people in those countries have not embraced genetic genealogy to the degree Americans have.

Genetically confirmed means that through triangulation, I know that I match other descendants of these ancestors on common segments.  In other words, on the yellow ancestors, here is no possibility of misattributed parentage or an adoption in that line between me and that ancestor.

Six gen both

Barbara Mehlheimer, my mitochondrial line, does have Scandinavian mitochondrial DNA matches, but even if she were 100% Scandinavian, which she isn’t because I have her birth record in Germany, that would only account for approximately 3.12% of my DNA, not 8-12%.

In order for me to carry 8-12% Scandinavian legitimately from an ancestral line, four of these ancestors would need to be 100% Scandinavian to contribute 12.5% to me today assuming a 50% recombination rate, and my mother’s percentage of Scandinavian should be about twice mine, or 24%.

My mother is only in one of the testing company data bases, because she passed away before autosomal DNA testing was widely available.  I was fortunate that her DNA had been archived at Family Tree DNA and was available for a Family Finder upgrade.

Mom’s Scandinavian results are 7%, or 8% if you add in Finland and Northern Siberia.  Clearly not twice mine, in fact, it’s less. If I received half of hers, that would be roughly 4%, leaving 8% of mine unaccounted for.  If I didn’t receive all of my “Scandinavian” from her, then the balance would have had to come from my father whose Estes side of the tree is Appalachian/Colonial American.  Even less likely that he would have carried 16% Scandinavian, assuming again, that I inherited half.  Even if I inherited all 8% of Mom’s, that still leaves me 4% short and means my father would have had approximately 8%, which is still between the great and great-great-grandfather level.  By that time, his ancestors had been in America for generations and none were Scandinavian.  Clearly, something else is going on.  Is there a Scandinavian line in the woodpile someplace?  If so, which lines are the likely candidates?

In mother’s Ferverda/Camstra/deJong/Houtsma line, which is not DNA confirmed, we have several additional generations of records procured by a professional genealogist in the Netherlands from Leeuwarden, so we know where these ancestors originated and lived for generations, and it wasn’t Scandinavia.

The Kirsch/Lemmert line also reaches back in church records several generations in Mutterstadt and Fussgoenheim, Germany.  The Drechsel line reaches back several generations in Wirbenz, Germany and the Mehlheimer line reaches back one more generation in Speichersdorf before ending in an unmarried mother giving birth and not listing the father.  Aha, you say…there he is…that rogue Scandinavian.  And yes, it could be, but in that generation, he would account for only 1.56% of my DNA, not 8-12%.

So, what can we conclude about this conundrum.

  • The Scandinavian results are NOT a function of specific Scandinavian genealogical ancestors – meaning ones in the tree who would individually contribute that level of Scandinavian heritage.  There is no Scandinavian great-grandpa or Scandinavian heritage at all, in any line, tracking back more than 6 generations.  The first “available” spot with an unknown ancestor for a Scandinavian is in the 7th generation where they would contribute 1.56% of my DNA and 3.12% of mothers.
  • The Scandinavian results could be a function of a huge amount of population intermixing in several lines, but 8-12% is an awfully high number to attribute to unknown population admixture from many generations ago.
  • The Scandinavian results could be a function of a problematic reference population being utilized by multiple companies.
  • The Scandinavian results could be identical by chance matching, possibly in addition to population admixture in ancient lines.
  • The Scandinavian results could be a function of something we don’t yet understand.
  • The Scandinavian results could be a combination of several of the above.

It’s a mystery.  It may be unraveled as the tools improve and as an industry, additional population reference samples become available or better understood.  Or, it may never be unraveled.  But one thing is for sure, it is very, very interesting!  However, I’m not trading lederhosen for anything based on this.

The Companies

I wrote a comparison of the testing companies when they introduced their second generation tools.  Not a lot has changed.  Hopefully we will see a third software generation soon.

I do recommend selecting between the main three testing companies plus National Geographic’s Genographic 2.0 products if you’re going to test for ethnicity.  Stay safe.  There are less than ethical people and companies out there looking to take advantage of people’s curiosity to learn about their heritage.

Today, 23andMe is double the price of either Family Tree DNA or Ancestry and they are having other issues as well.  However, they do sometimes pick up the smallest amounts of minority admixture.

Ancestry continues to have “a Scandinavian problem” where many/most of their clients have a significant amount (some as high as the 30% range) of Scandinavian ancestry assigned to them that is not reflected by other testing companies or tools, or the tester’s known heritage – and is apparently incorrect.

However, Ancestry did pick up my minority Ancestry of both Native and African. How much credibility should I give that in light of the known Scandinavian issue?  In other words, if they can’t get 30% right, how could they ever get 4 or 5% right?

Remember what I said about companies doing pretty well on a comparative continental basis but sorting through ethnicity within a continent being much more difficult. This is the perfect example.  Ancestry also is not alone in reporting small amounts of my minority admixture.  The other companies do as well, although their amounts and descriptions don’t match each other exactly.

However, I can download any or all three of these raw data files to GedMatch and utilize their various ethnicity, triangulation and chromosome by chromosome comparison utilities. Both Family Tree DNA and Ancestry test more SNP locations than does 23andMe, and cost half as much, if you’re planning to test in order to upload your raw data file to GedMatch.

If you are considering ordering from either 23andMe or Ancestry, be sure you understand their privacy policy before ordering.

In Summary

I hate to steal Judy Russell’s line, but she’s right – it’s not soup yet if ethnicity testing is the only tool you’re going to use and if you’re expecting answers, not estimates.  View today’s ethnicity results from any of the major testing companies as interesting, because that’s what they are, unless you have a very specific research agenda, know what you are doing and plan to take a deeper dive.

I’m not discouraging anyone from ethnicity testing. I think it’s fun and for me, it was extremely informative.  But at the same time, it’s important to set expectations accurately to avoid disappointment, anxiety, misinformation or over-reliance on the results.

You can’t just discount these results because you don’t like them, and neither can you simply accept them.

If you think your grandfather was 100% Native America and you have no Native American heritage on the ethnicity test, the problem is likely not the test or the reference populations.  You should have 25% and carry zero.  The problem is likely that the oral history is incorrect.  There is virtually no one, and certainly not in the Eastern tribes, who was not admixed by two generations ago.  It’s also possible that he is not your grandfather.  View ethnicity results as a call to action to set forth and verify or refute their accuracy, especially if they vary dramatically from what you expected.  If it’s the truth you seek, this is your personal doorway to Delphi.

Just don’t trade in your lederhosen, or anything else just yet based on ethnicity results alone, because this technology it still in it’s infancy, especially within Europe.  I mean, after all, it’s embarrassing to have to go and try to retrieve your lederhosen from the pawn shop.  They’re going to laugh at you.

I find it ironic that Y DNA and mtDNA, much less popular, can be very, very specific and yield definitive answers about individual ancestors, reaching far beyond the 5th or 6th generation – yet the broad brush ethnicity painting which is much less reliable is much more popular.  This is due, in part, I’m sure, to the fact that everyone can take the ethnicity tests, which represent all lines.  You aren’t limited to testing one or two of your own lines and you don’t need to understand anything about genetic genealogy or how it works.  All you have to do is spit or swab and wait for results.

You can take a look at how Y and mtDNA testing versus autosomal tests work here.  Maybe Y or mitochondrial should be next on your list, as they reach much further back in time on specific lines, and you can use these results to create a DNA pedigree chart that tells you very specifically about the ancestry of those particular lines.

Ethnicity testing is like any other tool – it’s just one of many available to you.  You’ll need to gather different kinds of DNA and other evidence from various sources and assemble the pieces of your ancestral story like a big puzzle.  Ethnicity testing isn’t the end, it’s the beginning.  There is so much more!

My real hope is that ethnicity testing will kindle the fires and that some of the folks that enter the genetic genealogy space via ethnicity testing will be become both curious and encouraged and will continue to pursue other aspects of genealogy and genetic genealogy.  Maybe they will ask the question of “who” in their tree wore kilts or lederhosen and catch the genealogy bug.  Maybe they will find out more about grandpa’s Native American heritage, or lack thereof.  Maybe they will meet a match that has more information than they do and who will help them.  After all, ALL of genetic genealogy is founded upon sharing – matches, trees and information.  The more the merrier!

So, if you tested for ethnicity and would like to learn more, come on in, the water’s fine and we welcome both lederhosen and kilts, whatever you’re wearing today!  Jump right in!!!