Friday, August 24, 2012

Follow Up: Lab Error Responsible for Adoptee's Confusing Match at AncestryDNA

This morning I received a call from John Pereira, VP of Business Development at, to discuss my post regarding the recent issue involving the confusion surrounding the adoptee's parent/child DNA match. He informed me that it was caused by a lab error. He declined to tell me the exact nature of the error and, of course, couldn't discuss "Chris and Pat's" specific case with me, but emphasized that it wasn't a problem with AncestryDNA's algorithms or underlying science. He shared with me that the error affected a small number of people and AncestryDNA is doing all they can to remedy the situation, including implementing new policies to ensure this doesn't happen again. Those affected are being retested with fresh samples as an extra precaution. Without addressing any specific customer(s), he explained that those affected were "matched to some people who they shouldn't have been". He assured me that they were rushing out new kits (this was confirmed by the adoptee in my post, "Chris") and would process them as quickly as possible as soon as the new samples are returned. He couldn't give an exact time frame, but assured me that it would not take nearly as long as had been earlier quoted to "Chris" by's representative.

In this case, it doesn't sound like having access to the underlying genetic data would have completely solved the problem since it would also have been incorrect. However, I still stand by my opinion that, with it, this situation would have been much more easily resolved. (In fact, a good example of this was the 2010 sample mix-up that affected 23andMe customers. Thanks to our active community and 23andMe's data transparency, the problem was quickly discovered and rectified.) Upon seeing an inheritance pattern that was clearly parent/child and reviewing the details of the corresponding match, it would have been undeniable in my mind that there was a lab error since these two people absolutely could not have shared that relationship. We wouldn't have wasted any time trying to fit a square peg into a round hole or on a "wild goose chase" as one of those affected termed it. There would have been no hours spent researching, speculating or, most likely, even blogging about it.

Let's face it, lab errors do occasionally happen. It is just very unfortunate for everyone involved that one of the small number of people affected was an adoptee and that an immediate family member prediction was the result of this error. It is heart wrenching to witness someone who has been denied their right to know "who they are" go through this experience on top of everything else they have been forced to endure in their search for their biological roots. By definition, we as genealogists understand the value of learning about our heritage and our ancestors. As a result, I cannot apologize for my passionate response to this situation. As a blogger, while striving to be unbiased about the various DNA testing companies, I do write from my own perspective. As an active participant in the genetic genealogy and adoptionDNA communities, I am not a completely detached observer. I have strong opinions and, sometimes, I unequivocally share them.

As I told John, I believe it would go a long way in easing their customers' minds if AncestryDNA were to release a statement that explained specifically what went wrong. "Lab error" is a bit wide in scope and when someone is handling our genetic data, we want details. On that note, it won't come as a surprise to my readers that I re-emphasized to John the importance to the genetic genealogy community that AncestryDNA release our genetic data to us. I mentioned that my colleagues and I were happy to discover that Ken Chahine's statements to the Presidential Commission for the Study of Bioethical Issues in Washington D.C. on August 1st were in line with our belief that our genetic data belongs to us (video and transcript).  During the second session, Dr. Chahine stated that "the customer retains ownership of their DNA and data". However, we feel that AncestryDNA's policies do not currently reflect this. John reiterated what I have been told before, which is that they are genuinely considering the best way to deliver this data to us. In response to my persistence, John told me that they are aware that this is important to me, but that they have to take into consideration everyone's feedback, not just mine. As a result, giving us access to our genetic data is not at the top of their list of priorities. He explained that they read lots of feedback and do a significant number of surveys and focus groups in order to determine what is most important to their customers and, by that process, their priorities are dictated. The problem with that is that the vast majority of those people will be new to DNA and a person just venturing into the world of genetic genealogy doesn't even know what they should be asking for. I appreciate that AncestryDNA's goal is to reach well beyond our community (as it should be and is in our best interest), but if these customers are engaged by their results and want to know more, where do they go? I can tell you one thing they do, they write to me and/or join our community's mailing lists and forums and ask questions. In my experience, these people who wish to explore genetic genealogy further, without exception, are disappointed when they realize what they have been denied. So, all of you out there who care about this issue need to make your voices heard. Let them know it isn't just me.

For all of you who have commented here, sent me emails and weighed in on mailing lists and forums, thank you! I am so sorry that I have not been able to respond to each of you, but I am reading them and John confirmed that AncestryDNA is too (except my email, of course!). My inbox is overflowing, but I do want you to know that I appreciate your sharing your thoughts, ideas and opinions and will try to respond to you all as soon as possible. I will also keep everyone updated on the outcome of the situation regarding "Chris and Pat" as privacy permits. Let's keep our fingers crossed for them.

*Update - 23andMe finds no match for "Chris and Pat".

Wednesday, August 22, 2012

Family Tree DNA's Super Summer Sale Featuring Family Finder!

I just received an email announcing a short sale at Family Tree DNA featuring their autosomal DNA test*, Family Finder. This sale is for new customers only, starting at Midnight (CDT) and ending on Saturday, August 25th at 11:59 PM (CDT).

Dear Family Tree DNA Project Administrator,

It seems that every time we run a super sale that a few people email us days later that they were traveling, sick or just hadn't looked at their emails in time, so for all of you who have wanted to entice a friend, neighbor or reluctant relative to get involved in Genetic Genealogy here's one more opportunity, but it will last for only 72 hours.
These are the only two options on sale, and they are geared specifically for newcomers. This sale will end on Saturday, August 25, at 11:59PM.
New Customers Only Current Price SALE PRICE
Family Finder + Y-DNA 12 $339 $249
Family Finder + mtDNA $339 $249
As with all promotions, orders need to be placed by the end of the sale and payment must be made by end of this sale. Order here.

Family Finder + Y-DNA 12

The Family Finder + Y-DNA test is available to males only.
Usually $339
  • For men only.
  • Combination package of autosomal DNA test and basic Y-DNA test.
  • Results include everything listed for the Family Finder test, plus a basic paternal line test.
  • Y-DNA12: Connect with genetic cousins and uncover the deep ancestral origin of your direct paternal line (your father, your father’s father, etc.) though Y-DNA testing.

Family Finder + mtDNA

The Family Finder + mtDNA test is available to males and females.
Usually $339
  • For men or women.
  • Combination package of autosomal DNA test and basic mtDNA test.
  • Results include everything listed for the Family Finder test, plus a basic maternal line test.
  • mtDNA: Reach into the past through mtDNA testing to uncover the deep ancestral origin of your direct maternal line (your mother, your mother’s mother, etc.). 
Learn More from Family Tree DNA

*I recently wrote a series describing the different types of tests here.

Tuesday, August 21, 2012

AncestryDNA: Confusing Relationship Predictions and Adoptees

As my readers are aware, I have been advocating for AncestryDNA to release the genetic data behind their matching predictions since the launch of their autosomal DNA test. You may also know that I am a passionate advocate for adoptees and their right to discover their heritage. This week, the two issues have collided into what I feel is a very important issue.

An increasing number of adoptees have been discovering their roots and, in some cases, their birth families through autosomal DNA testing at 23andMe and Family Tree DNA. I have been very encouraged by this and, as a result, have been suggesting that adoptees who are able to afford it, test at all three of the companies currently offering atDNA testing in order to "fish in different ponds" for close relatives. AncestryDNA has been last on this list of three companies due to the fact that their test does not include the raw genetic data for download, the specific matching segment information or the total DNA shared between matches. However, they were still on the list because I believed that if an adoptee were to get a very close match there, finding their birth family would be very clear-cut even without the genetic data. Well, I was wrong.

Initially, I was very excited to learn that an adoptee had received a parent/child prediction for one of their matches at AncestryDNA this week. What has happened since really illuminates the problem of not allowing customers access to the genetic data behind the predictions. The adoptee, a couple of adoption search angels and myself have all been researching and have come to the conclusion that there is absolutely no way this match is being accurately predicted.

Let me explain further. For the purposes of this story and to protect the identities of those involved, I will use non-gender specific names and call the adoptee "Chris" and the match "Pat". I also cannot share some of the specific details for privacy reasons but, believe me, I am very confident about what I am writing.

A parent and a child share 50% of their autosomal DNA. Since Chris and Pat cannot possibly share that relationship due to the fact that they are much too close in age, we looked at the most obvious alternate theory, which is that they are full siblings. Full siblings also share approximately 50% of their DNA on average. Since Pat's parents are both too young to have conceived Chris, then that was also determined to be impossible. This also rules out half-siblings who share approximately 25% of their DNA on average.  The next most likely scenario is that Chris and Pat are aunt/uncle and niece/nephew. This doesn't seem probable based on the family structures and double first cousins is also out based on Pat's family tree. The next closest relationship genetically would be first cousins who share an average of about 12.5% of their DNA. That is getting pretty far away for a parent/child prediction AND guess what?! None of Pat's aunts and uncles were old enough to reasonably have had children when Chris was born either. Further complicating the situation is that Chris' non-ID (non-identifying information given to an adoptee about their birth families) is pretty detailed and specific, listing the birth parents' ages as in their twenties (so not exceedingly young), their family heritage and information about the maternal grandparents. None of this matches Pat's tree at all, even at more distant levels.

This has been a mind-bending, frustrating situation for all involved, especially the adoptee. Try to imagine the elation of receiving this match after being blocked in every other avenue of discovery, to then have it turn out like this: so close and yet still so far. The really unfortunate thing is that if this match was at either 23andMe or Family Tree DNA, there would be no question what the actual relationship is. This is because both of those companies give the total amount of matching DNA and allow their customers to see the actual pattern of inheritance, which in most cases, will point to the exact relationship. In the few remaining cases, 23andMe can dispel all doubt for parent/child/sibling/aunt/uncle/niece/nephew and often even first cousin matches because, in addition, they include with their results fully identical segments, haplogroups and X-DNA inheritance. The fully identical segments will only appear in full siblings and/or double first cousins, haplogroups will help narrow down on which side of the family the relationship lies and the pattern of X-DNA inheritance will usually discriminate between aunt/uncle/niece/nephew and half siblings, as my colleagues and I recently realized while working on another very successful adoption DNA case.

Let me give you an example of just how clear-cut this really is.

This is what half-siblings look like in 23andMe's Family Inheritance feature (not Family Inheritance Advanced):

Half-siblings DNA sharing, click to enlarge

Versus full siblings:

Full siblings DNA sharing, click to enlarge

Notice the dark blue in the full siblings' comparison. That color is illustrating the areas where the siblings share "fully identical regions" versus the light blue which illustrates the "half-identical regions". Full siblings are the only relationship (except occasionally double cousins) that share fully identical regions, while half identical regions are what we find for all other atDNA matches. This is because full siblings get DNA from the same mother AND father, so on some of the chromosomes, they match on both pairs. For example, in the illustration above, the paternal Chromosome #1 and maternal Chromosome #1 have four fully identical regions, six half identical regions and one non-identical region. Remember we all get one of each chromosome 1-22 from mom and one from dad. This means that in some areas, we will inherit the same DNA as our full siblings on both pairs of chromosomes, while in some places we will inherit the same DNA on one chromosome and in some regions we will not inherit the same DNA on either chromosome. (This in-depth analysis would rarely be needed since it is usually obvious from the percentage of DNA shared if two people are full or half-siblings. The exception is when two people share an amount of DNA that falls somewhere in the middle of what would be expected, for example 37.5%.)

Although a parent a child and full siblings both share approximately 50% of their DNA, there is no confusing these two relationships when you see the pattern of DNA inheritance. Take a look at these graphs from 23andMe's Family Inheritance ADVANCED:

Parent/child DNA inheritance, sharing 50%

Full siblings DNA inheritance, sharing ~50%

As you can see, when the match is between a parent and a child, it is very obvious. This is because a parent and a child (top) will share the entire length of each chromosome 1-22, while other relationships, such as siblings (bottom), will have interrupted, randomly interspersed blocks of sharing.

Here is what the same relationships looks like using Family Tree DNA's Family Finder Chromosome Browser:

Parent/child DNA inheritance at FTDNA's Family Finder

Full sibling DNA inheritance at FTDNA's Family Finder

At AncestryDNA, all you get is this:

With this explanation:

It reads, "Our analysis of your DNA predicts that this person you match with is either your parent or your child. While there may be some statistical variation in our prediction, it is very likely to be a parent/child relationship. There is a very small possibility that the relationship may be up to two degrees of separation like a brother or a grandchild."

This explanation is very confusing to me for a couple of reasons. First, there does not need to be any level of "statistical variation" or uncertainty between parent/child versus sibling relationships. Doesn't AncestryDNA take into account the two testers' ages? Don't they look at the pattern of inheritance as illustrated above? If they had done either in the case outlined in this post, they would have easily realized that their prediction with 99% confidence was wholly inaccurate. Second, it is a bit odd to me that they discuss degree of relationship instead of expected percentage of shared DNA for immediate family relationships, which is much more relevant here. Their explanation groups brother and grandparent together, separate from parent and child, rather than explaining that parent/child/sibling relationships all share around 50% of their DNA, while grandparent/grandchild only share about 25% of DNA. Aunt/uncle/niece/nephew/half-sibling relationships also share about 25% on average. Ages of the matches will usually distinguish between these relationships, but when it doesn't, the pattern of inheritance almost always does.

This is not the only case where an adoptee has been confused with their AncestryDNA close relationship predictions this week. Another adoptee was elated to receive a first cousin prediction, but doesn't know if it is indeed a first cousin because there is no way of determining what criteria AncestryDNA used for the prediction. Search angels have been assisting the adoptee research this one too and all have strong doubts as to the accuracy of the prediction based on the match's family tree.

I realize that has said that they wish to keep the interface simple for the layman, but look what this adoptee wrote to me today, "They need to change something. It is much too confusing to predict what it actually means, especially for those of us who are doing our searches from home with no training." It sounds like, at least for adoptees, the end result of not including the specific underlying genetics is the exact opposite of what AncestryDNA was intending to accomplish.

I am involved in and aware of a quickly increasing number of successes involving adoptees using 23andMe and Family Tree DNA to discover their roots. By most accounts, there are at least six million adoptees in the United States, many of whom wish to learn about their genetic roots. (This number does not include donor-conceived individuals.) When these adoption DNA success stories get out in a big way, AncestryDNA is going to miss out on a very large market. I really hope they rethink their offerings, so we can ALL benefit from their service.

When contacted about the confusion with Chris and Pat's match, AncestryDNA's customer service was quick to remind them that the test is still in beta. With a database of over 50,000 autosomal DNA customers and growing fast, that seems a weak excuse. If they were unsure of their algorithms (and as I have demonstrated, there should be no reason for uncertainty in predicting close relationships), then they should have limited the beta to the original first 12,000 participants until they had tested it further. When a customer sees a 99% confidence prediction, this does not imply uncertainty, even in beta. In this case, the AncestryDNA representative told Chris that he thought the prediction might be in error. He said that they believed that the match was real, but that the prediction may be too close. Strangely, Chris was told that they needed a new sample and it would take two weeks for the kit to arrive and 6-7 weeks more to receive the results after kit activation. Why would they need a new DNA sample? Can't they just rerun the comparison or, even easier yet, simply look at the DNA sharing and reach a conclusion? If AncestryDNA wants to send the matching data to me, I will guarantee to give them a very quick answer! ;-)

Just for those of you who are wondering...
We considered the possibility that Pat is also adopted or donor-conceived, but this is highly unlikely due to several factors that I will not disclose here. The only other possibility would be a switched-baby-scenario at the hospital. Obviously, the odds of this are extremely small.

Regardless of the real situation, should Chris or Pat have to wait another 9-10 weeks to find out? Even if it turns out that somehow they are, indeed, closer relatives than our research implies, all of this confusion and heartache could have been avoided with the matching DNA information provided by the other two companies offering these tests. Don't the adoptees in our communities deserve better? Haven't they been forced to jump through enough hoops in an attempt to discover the information that the rest of us possess as our birthright?

As I'm sure my readers will agree, I am always fair to the companies involved in genetic genealogy and no one is a bigger cheerleader when a company gets it right, but this situation is simply inexcusable to me. I am interested in hearing how you feel about it too, so please share your thoughts. I would like to close with the words of one of the adoptees involved in this regrettable situation (words in parenthesis were added for clarity):

It's bad enough some of us already don't know who we are and are refused access to our own identity and medical information, but to turn around and pay money for something we think may bring us a glimmer of hope into the secrets of who we are, and then end up with more questions than answers, it is frustrating. It's almost like dangling the carrot in front of the horse, where they can see it but just can't quite reach it.

I still feel that I am closer than I was, but without a secret decoder ring I feel like I wasted $100...
I really don't have any way to know if I have the right information or how far off this test is. I have nothing concrete to compare it to and I could be doing all this work off of information that may not even been first I was really excited because I thought I had found some major clue (and I still may have, and definitely have more than I did before) and then started realizing that this could just be a goose chase.

It's part of the search I guess, but this situation was a bit different, I knew it was a long shot, because someone else (closely related) has to have taken the test, but then when you immediately get a hit that seems that close its an amazingly surreal feeling, now I am just worried it was $100 lost that I could have used towards one of the other more expensive test on other sites... I feel they (AncestryDNA) did something wrong in the way they set this up. 

**Update** - Immediately after reading this post, 23andMe generously offered both testers a free kit through their Personal Genome Service. When they receive the results, we will be able to determine their exact relationship (if they are indeed close family).

***Update 8/24 - AncestryDNA has stated that this was a lab error that is being rectified. Update post here.

****Update 9/15 - 23andMe finds no match between "Chris and Pat", details here.

Saturday, August 11, 2012

Getting Started in DNA Testing for Genealogy - My Series on

For the last month, I have been writing a weekly series on getting started in DNA testing for genealogy for Geni. Just in case you missed it, the articles cover the three types of tests and their applications. The series will be too basic for some of you, but for those of you just starting out, it may be exactly what you need.

Part One, Intro and Y-DNA
Interest in DNA testing for genealogy has reached an all-time high thanks to its increasing sophistication and the resulting visibility in the media. We hear about what we can learn from DNA testing from popular genealogy television programs, news stories and in advertising.  As a result, many family history enthusiasts have expressed their desire to venture into the fascinating world of genetic genealogy, but don’t know where to start.  If you are one of these people, then I am writing this for you. In a series of four posts over the next month, I will explain the three different types of DNA testing currently used by genealogists to discover more about their family trees. I will endeavor to help you determine which test or combination of tests would be best suited to your interests.
Read the rest of the article here.

Part Two, mtDNA
Last week we discussed the Y-DNA test that only traces your direct paternal line back in time, but there’s good news for you women who felt left out. Did you know that there is also a DNA test that traces your direct maternal line back in time?  It is called a mitochondrial DNA (mtDNA) test.
Read the rest of the article here.

Part Three, autosomal DNA (23andMe, Family Finder, AncestryDNA)
This week we are finally going to discuss my favorite type of genetic testing for genealogy – autosomal DNA. For the past two weeks we have covered DNA tests that are solely informative of one ancestral line – direct paternal (Y-DNA) and direct maternal (mtDNA). The great news about autosomal DNA (atDNA) testing is that there is potential to find valuable and meaningful information about any of your ancestral lines.  
Read the rest of the article here.

Part Four, ancestral origin tests and summary
We have covered the three types of DNA tests for genealogy over the last few weeks, but there is one more aspect of genetic genealogy that should not be overlooked. In fact, one of the questions that I am asked most frequently is: How can I get a percentage breakdown of my ethnicity? With popular television programs recently highlighting this compelling area of genetic genealogy, it is no surprise that interest in DNA testing has grown.
Read the rest of the article here.

*Also, don't forget about the $50 off 23andMe tests ending tomorrow at Midnight ! Order here using discount code VMQ6KG.

Thursday, August 9, 2012

23andMe Offering $50 Off Their Personal Genome Service

Late last night 23andMe sent out an email offer for $50 off of their test (regularly $299) with an individualized discount code. It was sent to both genotyped customers and those with demo accounts. It is only good through Sunday night, so check your inbox. Below is the text of the message. Feel free to use my code VMQ6KG if you didn't receive one since I consider all of you my friends. Enjoy!

Visiting family this summer? Are they part of 23andMe? Take advantage of our summer discount: $50 OFF each kit you purchaseThis offer expires in 3 days (11:59PM PDT, Sunday August 12, 2012).

To use this code, visit our
online store and add an order to your cart. Click "I have a discount code" and enter the code below

$50 off

Discount code: VMQ6KG

Summer is a time of barbeques, relaxation...
and intriguing questions:
Should you eat your hamburger with or without the bun? See your results for celiac disease.
Before hitting the beach, should you return to get the sunglasses you left in your car? See your results for age-related macular degeneration.

To help answer these questions and hundreds more, take a look at all of your results. 
Use your discount to share the 23andMe summer love with family and friends.

Be passionately curious,

The 23andMe Team

And the ancestry version:
You are receiving this message because you have a 23andMe account associated with this email address. Thank you for your interest in 23andMe! To show our appreciation, we would like to offer you a code for $50 off each kit you purchase. This offer expires in 3 days (11:59PM PDT, Sunday August 12, 2012).

To use this code, visit our online store and add an order to your cart. Click "I have a discount code" and enter the code below.

$50 off
Discount code: YHPRD7

There has never been a better time to join 23andMe. In addition to over 200 health and traits reports and access to the largest genealogical DNA database in the world, we have added many exciting new features in 2012:
No Subscriptions
No more subscriptions! One upfront price for unlimited access.
Ancestry Dashboard
The new My Ancestry dashboard - an exciting introduction to your ancestry results.
DNA Melody
DNA Melody, one of our newest labs, crafts a unique melody based on your genotype.

Have fun exploring your DNA!

The 23andMe Team