Calling HOGWASH on 23andMe’s Ancestry Timeline

Every now and then, I’m aghast when I look at a product and wonder how the devil it ever escaped the lab.  Is there no quality control?  And who thought it was a good idea, anyway, and why?

23andMe’s new Ancestry Timeline, released last week, is one of those.

Not only is it incorrect, but it deceives people into believing something that isn’t true.

Let’s take a look.

23andme-timeline

My Ancestry Timeline at 23andMe is shown above. I notice that my Middle Eastern/North African is missing from the timeline.  It’s less than 1%, but then so is my Native American which is included.

You can see in the text underneath the timeline that 23andMe says this timeline reflects how long ago my MOST RECENT ancestor in that geographic location was born.

Let’s compare this with reality.  You may recall that I recently wrote the article, Concepts – Calculating Ethnicity Percentages. In that article, I utilized my known and proven genealogy for my 64 great-great-great-great-grandparents to calculate what my ethnicity results should look like.  I’m referring to the same chart of my 64 ancestors for this exercise as well, since I’ve already done a great deal of the work.  Let’s see how reality stacks up to the 23andMe timeline.

On the chart below, I’ve shown the geographic category, the dates from the 23andMe timeline reflecting my most recent ancestor’s birth, my most recent ancestor from that location, and the accuracy of the 23andMe estimate.

Category 23andMe Dates My Most Recent Ancestor Birth 23andMe Accuracy
British and Irish 1900-1930 1759 – Henry Bolton Utter hogwash
French and German 1840-1900 1854 – Hiram Ferverda Close
Scandinavian 1750-1840 No ancestor More hogwash
Eastern European 1720-1810 No ancestor Hogwash
Italian 1690-1810 No ancestor Hogwash
Native American 1690-1790 Uncertain, mother’s side – early 1600s, father’s side – unknown Not verifiable, reasonable

The part of this equation that I find extremely upsetting is the sheer magnitude of how misleading the 23andMe timeline is.  It’s not just wrong, it’s horribly deceptive – massively inaccurate by any measure possible.

Here’s what the 23andMe white paper says about this new tool:

“Admixture date estimator is a 23andMe feature that enables customers to find out, for each of the ancestries they carry, when they may have had an ancestor in their genealogy who was likely to be a non-admixed representative of that population.”

I’m a seasoned genealogist, so I know unquestionably that my 23andMe Timeline is not only wrong, it’s entirely hogwash in 4 of 6 categories. A 5th category is close, and the 6th is reasonable but not verifiable.

The disparity of the British/Irish dates between 1759 when Henry Bolton was born in London and 1900-1930 is evident without discussion.  I do have a lot of British Isles ancestry, but it’s a result of many ancestors, not one and no one born there even remotely recently, let alone within the past generation. For me, someone born between 1900-1930 would be a parent.

Looking back at the Calculating Ethnicity Percentages article, you’ll note that I don’t have any Scandinavian ancestors in any known generation.  The 8% that 23andMe estimates, if accurate, equates to between a great-grandparent at 12.5% and a great-great-grandparent at 6.25%.  If the Scandinavian was one person, they would have been born in that timeframe (1750-1840) – but there was no one person.  The Scandinavian has to be very ancestral, meaning ancient Vikings or Normans or found in the Dutch population which is often found to be “Scandinavian.”  Regardless, there are no Scandinavian ancestors in my pedigree which reaches back well before 1750-1840.  Neither are there any Eastern European or Italian ancestors. None. Nada. Zip.

Perplexingly, it’s that unverifiable category, Native American, that so many people are desperately researching and scavenge for any possible clue.  There is no way to determine whether that category is right or wrong, so they will assume that it is accurate.  However, judging from the track record of the other categories – it’s more likely to be incorrect than correct.  Resorting to history alone, we know that the first European settlers arrived in North America in the early 1600s and my Native heritage is small, based on both my genealogy and my DNA, so a range of 1690-1790 would be a “good guess” with no genetic information at all.  My proven Native ancestors were born in the early/mid 1600s, but I have not successfully identified all of my Native ancestors, in particular the one(s) from my father’s side and when they were fully Native.

For a beginner or someone with unknown parentage, this timeline is horribly, horribly midleading and will cause novices to make massively incorrect assumptions. A British or Irish ancestor born between 1900-1930? Seriously?  This timeline combined with the 39.8% British/Irish suggests a parent.  Think about what an adoptee would take away from this timeline – and how their research could be derailed as a result.  Without parents available to DNA test, this erroneous information could make someone question their parentage.

Here’s an example of just how misleading this information can be.

In my case, I know beyond a doubt that my mother was primarily descended from German and Dutch recent immigrants with some French and Native American (Acadian) thrown in for good measure.  So, based on this timeline stating that a British/Irish ancestor was born in the British Isles between 1900 and 1930, combined with my ethnicity results of 39.8% British and Irish, OH MY GOD, my father is not who I thought, but is some British/Irish man.  MOTHER………………

All I can say is thank goodness I’ve done the DNA testing that I have and I know beyond a shadow of a doubt that my father is my biological father and not some British man, despite what this timeline suggests.  If I had no other evidence – I certainly would believe that my father was a British man, and I’d be GRATEFUL for this (highly erroneous) information.

On the flip side, many people will utilize this tool to “confirm” suspicions about genealogy.  I’ve already seen this happening on various lists.  With 4 of 6 categories being entirely, provably, incorrect, not to mention that the first category reflecting my largest percentage of ethnicity is so dramatically wrong, one can have absolutely no confidence in any of the other categories. I can’t and neither can anyone else.

I’m not alone either.  This, from another long-time genealogist: “I am dumbstruck.  It couldn’t be further from the truth for me.  I am very colonial on both sides.  Most recent immigrant ancestor was 1797.”  And from another: “No.  Just no.  Not accurate.”

So let me say this again.

You. Can. Have. No. Confidence.

If you already know your genealogy, then you don’t need this tool.  If you don’t know your genealogy, then you’re going to be misled by this tool.

It’s very clear that anyone with many ancestors that came from a particular population, but that haven’t been born in that location in many generations will have an incorrect timeline.  This would include just about everyone with colonial American roots.  The amount of a particular ethnicity does NOT equate to aggregating that ethnicity into a single ancestor and equating the amount of ethnicity to a recent birth in that location.  This logic is predicated on a whole lot of assumptions stacked on top of each other, like a house of cards. And we all know about assume.

23andMe, you should be ashamed of yourself for perpetrating genetic hogwash on your unsuspecting, believing and often vulnerable customers.  Climb down out of your ivory tower, buy a vowel and get a clue.  Statistics in an academic environment and reality sometimes just don’t mesh – and you, 23andMe, have the wherewithal and the customer base to discern the difference. You are supposed to be a science company.  You have no excuse.

I understand the desire to provide new tools to customers, but inaccurate simplicity is never a priority over realism.

I hope 23andMe will have the decency to remove this new deceptive and misleading “feature” that should never have made it past “proof of concept” in the first place.

thumbs-down

Concepts – Calculating Ethnicity Percentages

There has been a lot of discussion about ethnicity percentages within the genetic genealogy community recently, probably because of the number of people who have recently purchased DNA tests to discover “who they are.”

Testers want to know specifically if ethnicity percentages are right or wrong, and what those percentages should be. The next question, of course, is which vendor is the most accurate.

Up front, let me say that “your mileage may vary.” The vendor that is the most accurate for my German ancestry may not be the same vendor that is the most accurate for the British Isles or Native American. The vendor that is the most accurate overall for me may not be the most accurate for you. And the vendor that is the most accurate for me today, may no longer be the most accurate when another vendor upgrades their software tomorrow. There is no universal “most accurate.”

But then again, how does one judge “most accurate?” Is it just a feeling, or based on your preconceived idea of your ethnicity? Is it based on the results of one particular ethnicity, or something else?

As a genealogist, you have a very powerful tool to use to figure out the percentages that your ethnicity SHOULD BE. You don’t have to rely totally on any vendor. What is that tool? Your genealogy research!

I’d like to walk you through the process of determining what your own ethnicity percentages should be, or at least should be close to, barring any surprises.

By surprises, in this case, we’re assuming that all 64 of your GGGG-grandparents really ARE your GGGG-grandparents, or at least haven’t been proven otherwise. Even if one or two aren’t, that really only affects your results by 1.56% each. In the greater scheme of things, that’s trivial unless it’s that minority ancestor you’re desperately seeking.

A Little Math

First, let’s do a little very basic math. I promise, just a little. And it really is easy. In fact, I’ll just do it for you!

You have 64 great-great-great-great-grandparents.

Generation # You Have Who Approximate Percentage of Their DNA That You Have Today
1 You 100%
1 2 Parents 50%
2 4 Grandparents 25%
3 8 Great-grandparents 12.5%
4 16 Great-great-grandparents 6.25%
5 32 Great-great-great-grandparents 3.12%
6 64 Great-great-great-great-grandparents 1.56%

Each of those GGGG-grandparents contributed 1.56% of your DNA, roughly.

Why 1.56%?

Because 100% of your DNA divided by 64 GGGG-grandparents equals 1.56% of each of those GGGG-grandparents. That means you have roughly 1.56% of each of those GGGG-grandparents running in your veins.

OK, but why “roughly?”

We all know that we inherit 50% of each of our parents’ DNA.

So that means we receive half of the DNA of each ancestor that each parent received, right?

Well, um…no, not exactly.

Ancestral DNA isn’t divided exactly in half, by the “one for you and one for me” methodology. In fact, DNA is inherited in chunks, and often you receive all of a chunk of DNA from that parent, or none of it. Seldom do you receive exactly half of a chunk, or ancestral segment – but half is the AVERAGE.

Because we can’t tell exactly how much of any ancestor’s DNA we actually do receive, we have to use the average number, knowing full well we could have more than our 1.56% allocation of that particular ancestor’s DNA, or none that is discernable at current testing thresholds.

Furthermore, if that 1.56% is our elusive Native ancestor, but current technology can’t identify that ancestor’s DNA as Native, then our Native heritage melds into another category. That ancestor is still there, but we just can’t “see” them today.

So, the best we can do is to use the 1.56% number and know that it’s close. In other words, you’re not going to find that you carry 25% of a particular ancestor’s DNA that you’re supposed to carry 1.56% for. But you might have 3%, half of a percent, or none.

Your Pedigree Chart

To calculate your expected ethnicity percentages, you’ll want to work with a pedigree chart showing your 64 GGGG-grandparents. If you haven’t identified all 64 of your GGGG-grandparents – that’s alright – we can accommodate that. Work with what you do have – but accuracy about the ancestors you have identified is important.

I use RootsMagic, and in the RootsMagic software, I can display all 64 GGGG-grandparents by selecting all 4 of my grandparents one at a time.

In the first screen, below, my paternal grandfather is blue and my 16 GGGG-grandparents that are his ancestors are showing to the far right.  Please note that you can click on any of the images to enlarge.

ethnicity-pedigree

Next, my paternal grandmother

ethnicity-pedigree-1

Next, my maternal grandmother.

ethnicity-pedigree-2

And finally, my maternal grandfather.

ethnicity-pedigre-3

These displays are what you will work from to create your ethnicity table or chart.

Your Ethnicity Table

I simply displayed each of these 16 GGGG-grandparents and completed the following grid. I used a spreadsheet, but you can use a table or simply do this on a tablet of paper. Technology not required.

You’ll want 5 columns, as shown below.

  • Number 1-64, to make sure you don’t omit anyone
  • Name
  • Birth Location
  • 1.56% Source – meaning where in the world did the 1.56% of the DNA you received from them come from? This may not be the same as their birth location. For example an Irish man born in Virginia counts as an Irish man.
  • Ancestry – meaning if you don’t know positively where that ancestor is from, what do you know about them? For example, you might know that their father was German, but uncertain about the mother’s nationality.

My ethnicity table is shown below.

ethnicity-table

In some cases, I had to make decisions.

For example, I know that Daniel Miller’s father was a German immigrant, documented and proven. The family did not speak English. They were Brethren, a German religious sect that intermarried with other Brethren.  Marriage outside the church meant dismissal – so your children would not have been Brethren. Therefore, it would be extremely unlikely, based on both the language barrier and the Brethren religious customs for Daniel’s mother, Magdalena, to be anything other than German – plus, their children were Brethren..

We know that most people married people within their own group – partly because that is who they were exposed to, but also based on cultural norms and pressures. When it comes to immigrants and language, you married someone you could communicate with.

Filling in blanks another way, a local German man was likely the father of Eva Barbara Haering’s illegitmate child, born to Eva Barbara in her home village in Germany.

Obviously, there were exceptions, but they were just that, the exception. You’ll have to evaluate each of your 64 GGGG-grandparents individually.

Calculating Percentages

Next, we’re going to group locations together.

For example, I had a total of one plus that was British Isles. Three and a half, plus, that were Scottish. Nine and a half that were Dutch.

ethnicity-summary

You can’t do anything with the “plus” designation, but you can multiply by everything else.

So, for Scottish, 3 and a half (3.5) times 1.56% equals 5.46% total Scottish DNA. Follow this same procedure for every category you’re showing.

Do the same for “uncertain.”

Incorporating History

In my case, because all of my uncertain lines are on my father’s colonial side, and I do know locations and something about their spouses and/or the population found in the areas where each ancestor is located, I am making an “educated speculation” that these individuals are from the British Isles. These families didn’t speak German, or French, or have French or German, Dutch or Scandinavian surnames. People married others like themselves, in their communities and churches.

I want to be very clear about this. It’s not a SWAG (serious wild-a** guess), it’s educated speculation based on the history I do know.

I would suggest that there is a difference between “uncertain” and “unknown origin.” Unknown origin connotates that there is some evidence that the individual is NOT from the same background as their spouse, or they are from a highly mixed region, but we don’t know.

In my case, this leaves a total of 2 and a half that are of unknown origin, based on the other “half” that isn’t known of some lineages. For example, I know there are other Native lines and at least one African line, but I don’t know what percentage of which ancestor how far back. I can’t pinpoint the exact generation in which that lineage was “full” and not admixed.

I have multiple Native lines in my mother’s side in the Acadian population, but they are further back than 6 generations and the population is endogamous – so those ancestors sometimes appear more than once and in multiple Acadian lines – meaning I probably carry more of their DNA than I otherwise would. These situations are difficult to calculate mathematically, so just keep them in mind.

Given the circumstances based on what I do know, the 3.9% unknown origin is probably about right, and in this case, the unknown origin is likely at least part Native and/or African and probably some of each.

ethnicity-summary-2

The Testing Companies

It’s very difficult to compare apples to apples between testing companies, because they display and calculate ethnicity categories differently.

For example, Family Tree DNA’s regions are fairly succinct, with some overlap between regions, shown below.

ethnicity-ftdna-map

Some of Ancestry’s regions overlap by almost 100%, meaning that any area in a region could actually be a part of another region.

ethnicity-ancestry-map-2

For example look at the United Kingdom and Ireland. The United Kingdom region overlaps significantly into Europe.

ethnicity-ancestry-map

Here’s the Great Britain region close up, below, which is shown differently from the map above. The Great Britain region actually overlaps almost the entire western half of Europe.

ethnicity-ancestry-great-britain

That’s called hedging your bets, or maybe it’s simply the nature of ethnicity. Granted, the overlaps are a methodology for the vendor not to be “wrong,” but people and populations did and do migrate, and the British Isles was somewhat of a destination location.

This Germanic Tribes map, also from Ancestry’s Great Britain section, illustrates why ethnicity calculations are so difficult, especially in Europe and the British Isles.

ethnicity-invaders

Invaders and migrating groups brought their DNA.  Even if the invaders eventually left, their DNA often became resident in the host population.

The 23andMe map, below, is less detailed in terms of viewing how regions overlap.

ethnicity-23andme-map

The Genographic project breaks ethnicity down into 9 world regions which they indicate reflect both recent influences and ancient genetics dating from 500 to 10,000 years ago. I fall into 3 regions, shown by the shadowy Circles on the map, below.

ethnicity-geno-map-2

The following explanation is provided by the Genographic Project for how they calculate and explain the various regions, based on early European history.

ethnicity-geno-regions

Let’s look at how the vendors divide ethnicity and see what kind of comparisons we can make utilizing the ethnicity table we created that represents our known genealogy.

Family Tree DNA

MyOrigins results at Family Tree DNA show my ethnicity as:

ethnicity-ftdna-percents

I’ve reworked my ethnicity totals format to accommodate the vendor regions, creating the Ethnicity Totals Table, below. The “Genealogy %” column is the expected percentage based on my genealogy calculations. I have kept the “British Isles Inferred” percentage separate since it is the most speculative.

ethnicity-ftdna-table

I grouped the regions so that we can obtain a somewhat apples-to-apples comparison between vendor results, although that is clearly challenging based on the different vendor interpretations of the various regions.

Note the Scandinavian, which could potentially be a Viking remnant, but there would have had to be a whole boatload of Vikings, pardon the pun, or Viking is deeply inbedded in several population groups.

Ancestry

Ancestry reports my ethnicity as:

ethnicity-ancestry-amounts

Ancestry introduces Italy and Greece, which is news to me. However, if you remember, Ancestry’s Great Britain ethnicity circle reaches all the way down to include the top of Italy.

ethnicity-ancestry-table

Of all my expected genealogy regions, the most definitive are my Dutch, French and German. Many are recent immigrants from my mother’s side, removing any ambiguity about where they came from. There is very little speculation in this group, with the exception of one illegitimate German birth and two inferred German mothers.

23andMe

23andMe allows customers to change their ethnicity view along a range from speculative to conservative.

ethnicity-23andme-levels

Generally, genealogists utilize the speculative view, which provides the greatest regional variety and breakdown. The conservative view, in general, simply rolls the detail into larger regions and assigns a higher percentage to unknown.

I am showing the speculative view, below.

ethnicity-23andme-amounts

Adding the 23andMe column to my Ethnicity Totals Table, we show the following.

ethnicity-23andme-table-2

Genographic Project 2.0

I also tested through the Genographic project. Their results are much more general in nature.

ethnicity-geno-amounts

The Genographic Project results do not fit well with the others in terms of categorization. In order to include the Genographic ethnicity numbers, I’ve had to add the totals for several of the other groups together, in the gray bands below.

ethnicity-geno-table-2

Genographic Project results are the least like the others, and the most difficult to quantify relative to expected amounts of genealogy. Genealogically, they are certainly the least useful, although genealogy is not and never has been the Genographic focus.

I initially omitted this test from this article, but decided to include it for general interest. These four tests clearly illustrate the wide spectrum of results that a consumer can expect to receive relative to ethnicity.

What’s the Point?

Are you looking at the range of my expected ethnicity versus my ethnicity estimates from the these four entities and asking yourself, “what’s the point?”

That IS the point. These are all proprietary estimates for the same person – and look at the differences – especially compared to what we do know about my genealogy.

This exercise demonstrates how widely estimates can vary when compared against a relatively solid genealogy, especially on my mother’s side – and against other vendors. Not everyone has the benefit of having worked on their genealogy as long as I have. And no, in case you’re wondering, the genealogy is not wrong. Where there is doubt, I have reflected that in my expected ethnicity.

Here are the points I’d like to make about ethnicity estimates.

  • Ethnicity estimates are interesting and alluring.
  • Ethnicity estimates are highly entertaining.
  • Don’t marry them. They’re not dependable.
  • Create and utilize your ethnicity chart based on your known, proven genealogy which will provide a compass for unknown genealogy. For example, my German and Dutch lines are proven unquestionably, which means those percentages are firm and should match up relatively well to vendor ethnicity estimates for those regions.
  • Take all ethnicity estimates with a grain of salt.
  • Sometimes the shaker of salt.
  • Sometimes the entire lick of salt.
  • Ethnicity estimates make great cocktail party conversation.
  • If the results don’t make sense based on your known genealogical percentages, especially if your genealogy is well-researched and documented, understand the possibilities of why and when a healthy dose of skepticism is prudent. For example, if your DNA from a particular region exceeds the total of both of your parents for that region, something is amiss someplace – which is NOT to suggest that you are not your parents’ child.  If you’re not the child of one or both parents, assuming they have DNA tested, you won’t need ethnicity results to prove or even suggest that.
  • Ethnicity estimates are not facts beyond very high percentages, 25% and above. At that level, the ethnicity does exist, but the percentage may be in error.
  • Ethnicity estimates are generally accurate to the continent level, although not always at low levels. Note weasel word, “generally.”
  • We should all enjoy the results and utilize these estimates for their hints and clues.  For example, if you are an adoptee and you are 25% African, it’s likely that one of your grandparents was Africa, or two of your grandparents were roughly half African, or all four of your grandparents were one-fourth African.  Hints and clues, not gospel and not cast in concrete. Maybe cast in warm Jello.
  • Ethnicity estimates showing larger percentages probably hold a pearl of truth, but how big the pearl and the quality of the pearl is open for debate. The size and value of the pearl is directly related to the size of the percentage and the reference populations.
  • Unexpected results are perplexing. In the case of my unknown 8% to 12% Scandinavian – the Vikings may be to blame, or the reference populations, which are current populations, not historical populations – or some of each. My Scandinavian amounts translate into between 5 and 8 of my GGGG-grandparents being fully Scandinavian – and that’s extremely unlikely in the middle of Virginia in the 1700s.
  • There can be fairly large slices of completely unexplained ethnicity. For example, Scandinavia at 8-12% and even more perplexing, Italy and Greece. All I can say is that there must have been an awful lot of Vikings buried in the DNA of those other populations. But enough to aggregate, cumulatively, to between a great-grandparent at 12.5% and a great-great-grandparent at 6.25%? I’m not convinced. However, all three vendors found some Scandinavian – so something is afoot. Did they all use the same reference population data for Scandinavian? For the time being, the Scandinavian results remain a mystery.
  • There is no way to tell what is real and what is not. Meaning, do I really have some ancient Italian/Greek and more recent Scandinavian, or is this deep ancestry or a reference population issue? And can the lack of my proven Native and African ancestry be attributed to the same?
  • Proven ancestors beyond 6 generations, meaning Native lineages, disappear while undocumentable and tenuous ancestors beyond 6 generations appear – apparently, en masse. In my case, kind of like a naughty Scandinavian ancestral flash mob, taunting and tormenting me. Who are those people??? Are they real?
  • If the known/proven ethnicity percentages from Germany, Netherlands and France can be highly erroneous, what does that imply about the rest of the results? Especially within Europe? The accuracy issue is especially pronounced looking at the wide ranges of British Isles between vendors, versus my expected percentage, which is even higher, although the inferred British Isles could be partly erroneous – but not on this magnitude. Apparently part of by British Isles ancestry is being categorized as either or both Scandinavian or European.
  • Conversely, these estimates can and do miss positively genealogically proven minority ethnicity. By minority, I mean minority to the tester. In my case, African and Native that is proven in multiple lines – and not just by paper genealogy, but by Y and mtDNA haplogroups as well.
  • Vendors’ products and their estimates will change with time as this field matures and reference populations improve.
  • Some results may reflect the ancient history of the entire population, as indicated by the Genographic Project. In other words, if the entire German population is 30% Mediterranean, then your ancestors who descend from that population can be expected to be 30% Mediterranean too. Except I don’t show enough Mediterranean ancestry to be 30% of my German DNA, which would be about 8% – at least not as reported by any vendor other than the Genographic Project.
  • Not all vendors display below 1% where traces of minority admixture are sometimes found. If it’s hard to tell if 8-12% Scandinavian is real, it’s almost impossible to tell whether less than 1% of anything is real.  Having said that, I’d still like to see my trace amounts, especially at a continental level which tends to be more reliable, given that is where both my Native and African are found.
  • If the reason my Native and African ancestors aren’t showing is because their DNA was not passed on in subsequent generations, causing their DNA to effectively “wash out,” why didn’t that happen to Scandinavian?
  • Ethnicity estimates can never disprove that an ancestor a few generations back was or was not any particular ethnicity. (However, Y and mitochondrial DNA testing can.)
  • Absence of evidence is not evidence of absence, except in very recent generations – like 2 (grandparents at 25%), maybe 3 generations (great-grandparents at 12.5%).
  • Continental level estimates above 10-12 percent can probably be relied upon to suggest that the particular continental level ethnicity is present, but the percentage may not be accurate. Note the weasel wording here – “probably” – it’s here on purpose. Refer to Scandinavia, above – although that’s regional, not continental, but it’s a great example. My proven Native/African is nearly elusive and my mystery Scandinavian/Greek/Italian is present in far greater percentages than it should be, based upon proven genealogy.
  • Vendors, all vendors, struggle to separate ethnicity regions within continents, in particular, within Europe.
  • Don’t take your ethnicity results too seriously and don’t be trading in your lederhosen for kilts, or vice versa – especially not based on intra-continental results.
  • Don’t change your perception of who you are based on current ethnicity tests. Otherwise you’re going to feel like a chameleon if you test at multiple vendors.
  • Ethnicity estimates are not a short cut to or a replacement for discovering who you are based on sound genealogical research.
  • No vendor, NOT ANY VENDOR, can identify your Native American tribe. If they say or imply they can, RUN, with your money. Native DNA is more alike than different. Just because a vendor compares you to an individual from a particular tribe, and part of your DNA matches, does NOT mean your ancestors were members of or affiliated with that tribe. These three major vendors plus the Genographic Project don’t try to pull any of those shenanigans, but others do.
  • Genetic genealogy and specifically, ethnicity, is still a new field, a frontier.
  • Ethnicity estimates are not yet a mature technology as is aptly illustrated by the differences between vendors.
  • Ethnicity estimates are that. ESTIMATES.

If you like to learn more about ethnicity estimates and how they are calculated, you might want to read this article, Ethnicity Testing, A Conundrum.

Summary

This information is NOT a criticism of the vendors. Instead, this is a cautionary tale about correctly setting expectations for consumers who want to understand and interpret their results – and about how to use your own genealogy research to do so.

Not a day passes that I don’t receive very specific questions about the interpretation of ethnicity estimates. People want to know why their results are not what they expected, or why they have more of a particular geographic region listed than their two parents combined. Great questions!

This phenomenon is only going to increase with the popularity of DNA testing and the number of people who test to discover their identity as a result of highly visible ad campaigns.

So let me be very clear. No one can provide a specific interpretation. All we can do is explain how ethnicity estimates work – and that these results are estimates created utilizing different reference populations and proprietary software by each vendor.

Whether the results match each other or customer expectations, or not, these vendors are legitimate, as are the GedMatch ethnicity tools. Other vendors may be less so, and some are outright unethical, looking to exploit the unwary consumer, especially those looking for Native American heritage. If you’re interested in how to tell the difference between legitimate genetic information and a company utilizing pseudo-genetics to part you from your money, click here for a lecture by Dr. Jennifer Raff, especially about minutes 48-50.

Buyer beware, both in terms of purchasing DNA testing for ethnicity purposes to discover “who you are” and when internalizing and interpreting results.

The science just isn’t there yet for answers at the level most people seek.

My advice, in a nutshell: Stay with legitimate vendors. Enjoy your ethnicity results, but don’t take them too seriously without corroborating traditional genealogical evidence!

2016 Genetic Genealogy Retrospective

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

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

Vendors

Family Tree DNA

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

Both Buckets

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

Phased FF2

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

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

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

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

2016-ancient-origins

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

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

Ancestry

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

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

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

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

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

ancestry-common-ancestors

23andMe

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

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

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

New Kids on the Block

MyHeritage

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

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

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

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

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

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

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

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

2016-myheritage-matches

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

2016-myheritage-second-match

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

2016-myheritage-at-ancestry

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

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

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

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

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

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

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

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

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

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

Living DNA

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

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

2016-living-dna

Genos

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

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

Third Parties

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

I have covered these extensively over the years.

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

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

Roberta's ancestor map2

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

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

ADSA Crumley cluster

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

2016-gedmatch-triangulation-groups

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

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

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

Others offer unique tools that are a bit different.

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

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

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

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

2016-wikitree-peter-roberts

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

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

What Defined 2016

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

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

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

The answer is simple…

Ethnicity.

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

Ethnicity

“Kim just wanted to know who she was.”

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

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

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

ESTIMATES.

Nothing more.

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

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

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

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

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

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

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

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

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

Education

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

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

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

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

The Concepts Series

Concepts – How Your Autosomal DNA Identifies Your Ancestors

Concepts – Identical By Descent, State, Population and Chance

Concepts – CentiMorgans, SNPs and Pickin’ Crab

Concepts – Parental Phasing

Concepts – Y DNA Matching and Connecting With Your Paternal Ancestor

Concepts – Downloading Autosomal Data From Family Tree DNA

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

Concepts – Genetic Distance

Concepts – Relationship Predictions

Concepts – Match Groups and Triangulation

Concepts – Sorting Spreadsheets for Autosomal DNA

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

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

Concepts – Undocumented Adoptions Versus Untested Y Lines

My blog isn’t the only resource of course.

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

Other blogs I highly recommend include:

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

And of course, the ISOGG Wiki.

Online Conference Resources

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

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

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

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

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

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

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

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

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

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

Summary

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

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

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

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

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

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

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

Happy New Year!!!

23andMe’s New Ancestry Composition (Ethnicity) Chromosome Segments

I was excited to see 23andMe’s latest feature that provides customers with Ancestry Composition (ethnicity) chromosome segment information by location.  This means I can compare my triangulation groups to these segments and potentially identify which ancestor’s DNA that I inherited carry which ethnicity – right?? Another potential way to help discern whether I should ask Santa for lederhosen or a kilt?

Not so fast…

Theoretically yes, but as it turns out, after working with the results, this tool doesn’t fulfill it’s potential and has some very significant issues, or maybe this new tool just unveiled underlying issues.

Rats, I guess Santa is off the hook.

Let’s take a look and step through the process.

Ancestry Composition Chromosome Painting

To see your Ancestry Composition ethnicity chromosome painting, sign into 23andMe, then go to the Reports tab at the top of your page and click on Ancestry. Please note that you can click on any of the graphics in this article to enlarge.

23andme-eth-seg-1

Then click on Ancestry Composition, which shows you the following:

23andme-eth-seg-2

Scrolling downs shows you your chromosomes, painted with your ethnicity. This isn’t new and it’s a great visual.

You may note that 23andMe paints both “sides” of each chromosome separately, the side you received from your mother and the side you received from your father. However, there is no way to determine which is which, and they are not necessarily the same side on each chromosome.

If one or both of your parents tested at 23andMe, you can connect your parents to your results and you can then see which ethnicity you received from which parent.

Let’s work through an example.

23andme-eth-seg-3

This person, we’ll call her Jasmine, received two segments of Native ancestry, one on chromsome 1 and one on chromosome 2, both on the first (top) strands or copies. She also received one segment of African on DNA strand (copy) 1 of chromsome 7.

Caveat

Words of warning.

JUST BECAUSE THESE ETNICITIES APPEAR ON THE SAME STRANDS OF DIFFERENT CHROMOSOMES, STRAND ONE IN THIS CASE, DOES NOT MEAN THEY ARE INHERITED FROM THE SAME PARENT.  

Each chromosome recombines separately and without a parent to compare to, there is no way to know which strand is mother’s or father’s on any chromsome. And figuring out which strand is which for one chromsome does NOT mean it’s the same for other chromsomes.

In fact, Jasmine’s mother has tested, and she has NO African on chromosome 7. However, Jasmine and her mother both have Native American on chromosomes 1 and 2 in the same location, so we know absolutely that Jasmine’s strand 1 on chromosome 7 is not from the same parent as strand 1 on chromosome 1 and 2, because Jasmine’s mother doesn’t have any African DNA in that location.

If you’re a seasoned 23andMe user, and you’re saying to yourself, “That’s not right, the chromosome sides should be aligned if a parent tests.”  You’re right, at least that’s what we’ve all thought.  Keep reading.

Let’s dig a bit further.

Connecting Up

23and Me encourages everyone to connect their parents, if your parents have tested.

Jasmine’s mother has tested and is connected to Jasmine at 23andMe.

23andme-eth-seg-4

Even though the button says “Connect Mother,” which makes it appear that Jasmine’s mother isn’t connected, she is. Clicking on Jasmine’s “Connect Mother” button shows the following:

23andme-eth-seg-5

Furthermore, if the parent isn’t connected, you don’t see any parental side ethnicity breakdown – and we clearly see those results for Jasmine.  Below is an example of the same page of someone whose parents aren’t connected – and you can see the verbiage at the bottom saying that a parent must be connected to see how much ancestry composition was inherited from each parent.

23andme-eth-seg-not-connect

If a child is connected to at least one parent, 23andMe, based on that parent’s test, tells the child which sides they inherited which pieces of their ethnicity from, shown for Jasmine, below.

23andme-eth-seg-6

In this case, the mother is connected to Jasmine and the father’s ethnicity results are imputed by subtracting the results where Jasmine matches her mother. The balance of Jasmine’s DNA ethnicity results that don’t match her mother in that location are clearly from her father.

23andMe may sort the results into the correct buckets, but they do not correctly rearrange the chromosome “copies” or “sides” on the chromosome browser display based on the parents’ DNA, as seen from the African example on chromosome 7. Either that, or the ethnicity phasing is inaccurate, or both.

You can see that 23andMe tells Jasmine that all of her Native is from her mother’s side, which is correct.

23andMe tells Jasmine that part of her North African and Sub-Saharan African are from her mother, but some North African is also from her father. You can see Jasmine’s African on her chromosome 7, below.

23andme-eth-seg-7

There is no African on Jasmine’s mother’s chromosome 7, below.

23andme-eth-seg-8

So if African exists on chromosome 7, it MUST come from Jasmine’s father’s side. Therefore, side one of chromosome 7 cannot be Jasmine’s mother’s side, because that’s where Jasmine’s African resides.

This indictes that either the results are incorrect, or the “sides” showing have not been corrected or realigned by 23andMe after parental ethnicity phasing, or both.

Here’s another example. Jasmine shows Middle East and North Africa on chromosomes 12 and 13 on sides one and two, respectively.

23andme-eth-seg-9

Jasmine’s mother shows Middle East and North Africa on chromosome 14, only, with none showing on chromosome 12 or 13.

23andme-eth-seg-10

Yet, 23andMe shows Jasmine receiving Middle East and North African DNA from her mother.

23andme-eth-seg-11

Jasmine is also shown as receiving Sub-Saharan African and West African from her mother, but Jasmine’s mother has no Sub-Saharan or West African, at all.

Interestingly, when you highlight both West African and Sub-Saharan African, shown below, it highlights the same segment of Jasmine’s DNA, so apparently these are not different categories, but subsets of each other, at least in this case, and reflect the same segment.

23andme-eth-seg-12

23andme-eth-seg-13

Jasmine’s mother shows this region of chromosome 7 to be “European” with no further breakdown.

Clearly Jasmine’s sides 1 and 2 have not been consistently assigned to her mother, because Jasmine’ African shows on both sides 1 and 2 of chromosomes 12 and 13 and Jasmine’s mother has no African on either on those chromosomes – so those segments should be assigned consistently to Jasmine’s father’s side, which, based on Jasmine’s match to her mother on chromosome 1, side 1 – Jasmine’s father’s “copy” should be Jasmine’s side 2.  This tool is not functioning correctly.

Jasmine’s father is deceased, so there is no way to test him.

The information provided by 23and Me contradicts itself.

Either the ethnicity assignment itself or the parental ethnicity phasing is inaccurate, or both. Additionally, we now know that the chromosome “sides,” meaning “copies” are inaccurately displayed, even when one parent’s DNA is available and connected, and the sides could and should be portrayed accurately.

This discrepancy has to be evident to 23andMe, if they are checking for consistency in assigning child to parent segments.  You can’t assign a child’s segment to a parent who doesn’t carry any of that ethnicity in a common location.  That situation should result in a big red neon sign flashing “STOP” in quality assurance.  Inaccurate results should never be delivered to testers, especially when there are easy ways to determine that something isn’t right.

The New Feature – Ethnicity Segments

Like I said, I was initially quite excited about this new feature, at least until I did the analysis. Now, I’m not excited at all, because if the results are flawed, so is the underlying segment data.

My original intention was to download the ethnicity segment information into my master spreadsheet so that I could potentially match the ethnicity segments against ancestors when I’ve identified an ancestral segment as belonging to a particular ancestral line.

This would have been an absolutely wonderful benefit.

Let’s walk though these steps so you can find your results and do your own analysis.

When you are on the Ancestry Composition page, you will be, by default, on the Summary page.

23andme-eth-seg-14

Click on the Scientific Details tab, at the top, and scroll down to the bottom of the page where you will see the following:

23andme-eth-seg-15

You will be able to select a confidence level, ranging from 50% to 90%, where 50% is speculative and 90% is the highest confidence. Hint – at the highest confidence level, many of the areas broken out in the speculative level are rolled up into general regions, like “European.”  Default is 50%.

23andme-eth-seg-16

Click on download raw data and you can then open or save a .csv file. I suggest then saving that file as an Excel file so you can do some comparisons without losing features like color.

In my case, I saved a 50% confidence file and a 90% confidence file to compare to each other.

I began my analysis with both strands of chromosome 1:

Strand 1 was easy.  (Click on graphic to enlarge.)

23andme-eth-seg-17

At the 50% confidence level, on the left, three segments are identified, but when you really look at the start and end positions, rows one and two overlap entirely. Looking back at the chromosome browser painting, this looks to be because that segment will show up in both of those categories, so this isn’t an either-or situation. Row 3 shows Scandinavian beginning at 79,380,466 and continuing through 230,560,900, which is a partial embedded segment of row 2.

At the 90% confidence level, on the right, above, this entire segment, meaning all of chromosome 1 on side 1, is simply called European.

You can see how this might get complex very quickly when trying to utilize this information in a Master DNA Spreadsheet with your matches, especially since individual segments can have 2 or 3 different labels.  However, I’d love to know where my mystery Scandinavian is coming from – assuming it’s real.

Now, let’s look at strand 2 of chromosome one. It’s a little more complex.

23andme-eth-seg-18

I’ve tried to color code identical, or partially-overlapping segments.

The red, green and apricot segments overlap or partially overlap at the 50% level, on the left, indicating that they show up in different categories.

The red segments are partially the same, with some overlapping, but are grouped differently within Europe.

The green Native/East Asian segments at the 90% level are interrupted by the blue unassigned segments in the middle of the green segments, while at the 50% confidence level, they remain contiguous.

All of the start and end segments change, even if the categories stay the same or generally the same. The grey example at the bottom is the easiest to see – the category changes to the more general “European” at the 90% level and the start segment is slightly different.

Jasmine and Her Mother

As one last example, let’s look at the segments at the 50% confidence level, which should be the least restrictive, that we were comparing when discussing Jasmine and her mother.

You can see, below, that Jasmine’s Native portion of chromosome 1 and 2 are either equal to or a subset of her mother’s Native portion, so these match accurately and are shown in green.

This tells us that Jasmine’s mother’s side of chromosomes 1 and 2 is Jasmine’s “copy 1” and given that we can identify Jasmine’s mother’s DNA, all of Jasmine’s “copy 1” should now be displayed as her mother’s DNA, but it isn’t.

23andme-eth-seg-19

On chromosomes 7 and 12, where Jasmine’s copy 1 shows African DNA, her mother has none. All African DNA segments are shown in red, above.

Furthermore, 23andMe attributes at least some portion of Jasmine’s African to Jasmine’s mother, but Jasmine’s mother’s only African DNA appears on chromosome 14, a location where Jasmine has none. There is no common African segment or segments between Jasmine and her mother, in spite of the fact that 23andMe indicates that Jasmine inherited part of her African DNA from her mother.  It’s true that Jasmine and her mother both carry African DNA, but not on any of the same segments, so Jasmine did not inherit her mother’s African DNA.  Jasmine’s African DNA had to have come from her father – and that’s evident if you compare Jasmine and her mother’s segment data.

Where Jasmine has African DNA segments, above, I’ve shown her mother’s corresponding DNA segments on both strands for comparison. I have not colored these segments. Conversely, where Jasmine’s mother has African, on chromosome 14, I have shown Jasmine’s corresponding DNA segments covering that segment.  There are no matches.

Clearly Jasmine did not inherit her African segments from her mother, or the segments have been incorrectly assigned as African or European, or multiple problems exist.

Summary

I initially thought the Ancestry Composition segments were a great addition to the genealogists toolset, but unfortunately, it has proven to be otherwise, highlighting deficiencies in more than one of the following area:

  • Potentially, the ancestry composition ethnicity breakdown itself.  Is the underlying ethnicity assignment incorrect?  In either case, that would not explain the balance of the issues we encountered.
  • The chromosome “sides” or “copy” shown after the parental phasing – in other words, the child’s chromosome copies can be assigned to a particular parent with either or both parents’ DNA. Therefore, after parental phasing, all of the same parent’s DNA should consistently be assigned to either copy 1 or copy 2 for the child on all of their chromosomes.  It isn’t.
  • The child’s ethnicity source (parent) assignment based on the parent’s or parents’ ethnicity assignment(s).  Hence, the African segment assignment issues above.
  • The ethnicity phasing itself.  The assigning of the source of Jasmine’s African DNA to her mother when they share no common African segments.  Clearly this is incorrect, calling into question the validity of the rest of the parental ethnicity phasing.

Unfortunately, we really don’t have adequate tools to determine exactly where the problem or problems lie, but problems clearly do exist. This is very disappointing.

As a result, I won’t be adding this information to my Master DNA spreadsheet, and I’m surely glad I took the time to do the analysis BEFORE I copied the segment data into my spreadsheet.  In my excitement, I almost skipped the analysis step, trusting that 23andMe had this right.

All ethnicity results need to be taken with a large grain of salt, especially at the intra-continent level, because the reference populations and technology just haven’t been perfected.  It’s very difficult to discern between countries and regions of Europe, for example.  I discussed this in the article, “Ethnicity Testing – A Conundrum.”

However, it appears that adding parental phasing on top means that instead of a grain of salt, we’re looking at the entire shaker, at least at 23andMe – even at the continent level – in this case, Africa, which should be easily discernable from European. Parental phasing by its very nature should be able to help refine our results, not make them less reliable.

Is this new segment information just showing us the problems with the original ethnicity information?  I hate to even think about this or ask these difficult questions, but we must, because testers often rely on minority (to them) ethnicity admixture information to help confirm the ethnicity of distant ancestors. Are the display tools or 23andMe’s programs not working correctly, or is there a deeper problem, or both?

I think I just received a big lump of coal, or maybe a chunk of salt, in my stocking for Christmas.

Bah, humbug.

New Family Tree DNA Holiday Coupons – And the 12 Myths of Family Finder

It’s Monday coupon day – so I’m listing this week’s coupons and also discussing the Family Finder test this week.

Family Finder, Family Tree DNA’s autosomal test is one of the most popular DNA tests, for good reason.

First, like the name implies, it finds your family members on multiple lines of your family – not just the direct Y line (paternal, for males) or the matrilineal line (for both genders.)

Second, Family Finder provides you with an ethnicity estimate which is quite reliable at the continent level for the past 5 or 6 generations.  All ethnicity tests should be taken with somewhat of a grain of salt, because we are still on the frontier of this science.  But let’s face it, this is fun!

myorigins

Furthermore, Family Tree DNA just added a new function titled Ancient Origins that reaches further back in time. Where were your ancestors from?

ancient-origins

12 Myths of Family Finder

Since it’s the holiday season, and the “12 Days of Christmas” is playing in the background, let’s do the “12 Myths of Family Finder.”

1. Since I’ve taken an autosomal test elsewhere, I don’t need to take one at Family Tree DNA too.

You might want to rethink that strategy, and here’s why. Different people test at different companies. Only a few of us nut-cases test at all companies – so you don’t know which matches you’ll be missing if you’re not in all of the data bases. You know how Murphy’s Law works, your best match will be at the last place you test.

2. I already have a tree elsewhere, so I don’t need to upload or create a family tree at Family Tree DNA too.

You definitely need a tree, and here’s why. Family Tree DNA allows you to connect yourself and your relatives on your tree, utilizing phased matches to multiple people to assign your matches to either your maternal or paternal side of the tree, or both.  You can see the blue paternal, red maternal and purple “both” icons on the screen shot below.  No other vendor has this feature, and it requires a tree.

Phased FF2

Furthermore, your matches want to view your tree because Family Tree DNA also provides an ancestral surname matching function. And believe me, if you have one of my surnames AND our DNA matches, I want to see your tree! You’ll want to see mine too! So upload a Gedcom file or create a tree and connect DNA tests to the appropriate people in your tree. You’ll be very glad you did!

You can see an example of several people who have tested and are linked to their proper location in my tree.  My mother and myself are on the left, and three people from my father’s line are shown on the right.  This is how Family Tree DNA assigns matches to maternal and paternal sides of your family

ftdna-linked-tree

3. Autosomal testing doesn’t show anything about the paternal line or the maternal line.

This is probably a misunderstanding, and here’s why. This statement is probably an artifact of the fact that Y DNA and mitochondrial DNA are a separate kind of DNA that ONLY provides information about the direct paternal and direct maternal lines. However, autosomal DNA provides autosomal information from all ancestral lines, including the direct paternal and matrilineal lines too. You can read more about the different kinds of DNA testing and what they provide here.

4. Autosomal DNA testing will find my Native, African (or other small amounts of your admixture) no matter how far back that ancestor lived.

Not true, and here’s why. Autosomal DNA is pretty good at finding admixture in amounts over about 1%. However, each generation loses 50% of the DNA in the preceding generation. You carry about 1% of your ancestors’ DNA back 5 or 6 generations ago – which is about 150 years. Beyond that, it’s the luck of the roll of the dice as to whether fate has smiled on you and you carry a large enough ancestral segment to be found. However, Y and mitochondrial DNA DO reach infinitely back into time for just the direct paternal and direct matrilineal lines, so consider those tests as well.

5. If my sibling has already tested, I don’t need to.

That’s a myth most of the time, but not always. You and your full sibling both inherited half of each of your parents’ DNA, but not the same half. In reality, you share about half of the same DNA with your full sibling, meaning the other half is different. So you and your siblings will each have some of the same autosomal DNA matches, and some different. You’ll want to test every sibling, full and half – that is unless both parents have tested (full siblings) or the common parent has tested for half-siblings.

6. If I’ve tested, I don’t need to test my parents. That’s duplication.

In this case, duplication can be a good thing. Testing your parents will automatically divide your matches effectively in half for you – so long as you connect their test to your tree. If you have only one parent, that’s fine too. Family Tree DNA assigns maternal or paternal sides for phased matches to each parent for you. By the way, if you have grandparents, great-grandparents or the siblings of those people, you’ll definitely want to test the members of the oldest generation in your family. And don’t wait – you never know when it will be too late.  And not to be morbid, but Family Tree DNA will overnight kits to funeral homes if you perhaps waited a bit too long.

7. I don’t have full siblings, I only have half-siblings, so there is no need to test them.

This is right part of the time, but not always.  Don’t you just love these “it depends” answers!

If you have a half sibling and your shared parent is living, then you’re right, you don’t need to test the half-siblings because the parent is available. If that parent isn’t available, then a half-sibling can be even MORE useful than a full sibling, since you immediately know which side anyone who matches you and that sibling come from – your shared parent’s line.

8. I tested elsewhere and uploaded into GedMatch, so I don’t need to test anyplace else.

Nope, and here’s why. Family Tree DNA began DNA testing people 16 years ago. Many people who have tested at Family Tree DNA are now deceased or their kits are being managed by another family member. Suffice it to say that not everyone uploads their results to GedMatch for various reasons, so if you want to be sure to catch all of your matches, you’ll want to test at Family Tree DNA and be in their data base too.

9. I’ll upload my results from 23andMe or Ancestry to Family Tree DNA instead of retesting. It costs less.

That’s a good idea, up to a point, and that point is the point in time that 23andMe moved to their V3 chip and Ancestry moved to their V2 chip. Both of those chips have significantly less markers than their prior chips, making them incompatible with some of the locations on the Family Tree DNA chip. Those dates are approximately November 2013 for 23andMe and roughly May of 2016 for Ancestry. If you tested before those dates, then by all means, upload for the $39 unlock fee. That’s a great value. If you tested after that, it’s a no go, at least not now. You’ll need to retest.

10. I’ll just wait until Family Tree DNA accepts uploads from 23and Me and Ancestry again.

Family Tree DNA has indicated they are working towards that goal, but with the current Family Finder test price at $59 for the full 700,000 locations, compared to the transfer price of $39, it makes more sense to take the Family Finder test for the additional locations tested, even if Family Tree DNA were to make the transfer available today. In some cases, only about half of the locations are compatible which will clearly affect matching at some level. The only time waiting to transfer would be a preferred option would be if the person who took the original test is no longer available to retest.

11. I don’t want to test, because I can’t spit that much. Or substitute “because I am afraid of needles.”

Good news for you. The Family Tree DNA test kit is a swab kit, like a Q-Tip to scrape the inside of your cheek. No spitting, blood or needles involved.

12. I would like to upgrade my family member’s kit, but I can’t because they died.

All is not lost. If you have authorization to upgrade the kit, and they previously tested at Family Tree DNA, you can easily order that upgrade today if enough DNA remains.

Family Tree DNA archives DNA for 25 years. If you have your family member’s account number and password, assuming they gave you administrative privileges for their account, you can order an upgrade for your deceased relative the same as any other account. If you don’t have permission or full access to the account (kit number and password), or they didn’t designate you as DNA beneficiary on their account, you’ll need to obtain permission from the family first. Over time, DNA does degrade, so your best bet for upgrade success is with a sample that has been at the lab for less than 5 years. If in doubt, call Family Tree DNA and they will help you.

I upgraded my mother’s account to Family Finder after she passed away, and that’s one of the best gifts she ever gave me!  It’s a wonderful legacy that gifts me over and over again every day.

This Weeks Coupons

This week’s holiday discounts coupon codes are shown below and they include a few for Family Finder which can be used on top of the $59 sale price. At these prices, I’m offering upgrades to several family members who have previously tested.

Click here to redeem these coupons, or to see how much your own discount code is this week. If you don’t want to use your discount code, feel free to post in the blog comments for others to share.

Coupon # Good for What
R20DEZF4EENR $10 Off MTDNA
R209RDVO4J9L $10 Off MTDNA
R20B369B6NGV $10 Off MTDNA
R20YMXZ8U6CJ $10 Off MTDNA
R20OW49V9RYX $10 Off MTDNA
R20CMC31ZS7W $10 Off MTDNA
R209WQCGO4TY $10 Off MTDNA
R206K3494KEC $10 Off MTDNA
R20W25TH1CQB $10 Off MTDNA
R208PBVMJKEZ $10 Off MTDNA
R20656JB37DXQ $10 Off MTDNA
R20NIA4UIXU1 $10 Off MTDNA
R20ZZ8LI964U $10 Off MTDNA
R20H38AA9QT2 $10 Off Y37, Y67 or Y111
R20840BD79SN $10 Off Y37, Y67 or Y111
R20L1JDTBEYH $10 Off Y37, Y67 or Y111
R204SN79SXY0 $10 Off Y37, Y67 or Y111
R20GI5MFLZM4 $10 Off Y37, Y67 or Y111
R20DVKJIDD46 $10 Off Y37, Y67 or Y111
R20UKNCIPVZH $10 Off Y37, Y67 or Y111
R208B5KVN4R5 $10 Off Y37, Y67 or Y111
R20D1T66DBQ2 $10 Off Y37, Y67 or Y111
R20Z18NS5U4T $10 off Y37, Y67 or Y111
R20KD9WQN62D $10 Off Y37, Y67 or Y111
R209P2YBRUS2 $10 Off Y37, Y67 or Y111
R20EI5QCNCS5 $10 Off Y37, Y67 or Y111
R2031NUVXO2K $10 Off Y37, Y67 or Y111
R20P6QJDX16X $10 Off Y37, Y67 or Y111
R20FQKQ3UYX1 $10 Off Y37, Y67 or Y111
R20VPM2SA93Z $10 Off Y37, Y67 or Y111
R20IJI7WB04V $10 Off Y37, Y67 or Y111
R20L3TVKX1PZ $10 Off Y37, Y67 or Y111
R20AXRZ773DI $10 Off Y37, Y67 or Y111
R20V8IGYX0JV $10 Off Y37, Y67 or Y111
R20V1CJ8KM3U $10 Off Y37, Y67 or Y111
R20WMV2PMPA5 $15 Off MTDNA
R20U0KALPOAP $15 Off MTDNA
R20DTM6IS6OG $15 Off MTDNA
R2047XESNNOW $15 Off MTDNA
R20OQMSN134Z $20 Off Y37, Y67 or Y111
R20HBKCNGXHP $20 Off Y37, Y67 or Y111
R20L0GIH41EX $20 Off Y37, Y67 or Y111
R20P34FM2Z24 $20 Off Y37, Y67 or Y111
R20PKG0EH5RK $20 Off Y37, Y67 or Y111
R206EIOUM8XI $20 Off Y37, Y67 or Y111
R20Q86FQQXU8 $30 off Y-DNA 67
R204DG7FVWLX $30 off Y-DNA 67
R2090PO0XK9F $30 off Y-DNA 67
R200XJP913SW $30 off Y-DNA 67
R205VE2O610A $30 off Y-DNA 67
R204PR43CAN1 $40 Off MTFULL
R20IFWTTD06F $40 off MTFULL
R2053STZYFHB $40 Off MTFULL
R20KSEY5OEJE $40 Off MTFULL
R20NE9XWON47 $40 Off MTFULL
R20XOQP97UQZ $40 Off MTFULL
R20V7L1HMCDZ $40 Off Y-DNA 67
R20FRSJRQL8M $40 Off Y-DNA 67
R20NDA1EB08M $5 Off Family Finder
R20WQVQMPR8M $5 Off Family Finder
R20O27L5O74E $5 Off Family Finder
R20G5CV2ND07 $50 Off Big Y
R20MRP1WE9F0 $50 Off Big Y
R204R19TELUW $50 off Big Y
R20XTPB81JPI $50 Off Big Y
R20R1C95FCLO $50 Off Big Y
R20VYBWJYEES $60 Off Y-DNA 111
R208S3BBT6U3 $75 Off Big Y
R20W0V2SQQPB $75 Off Big Y
R20I0VBBXBNN $75 Off Big Y
R209B10S4C8P $75 Off Big Y

 

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.

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!!!