Showing posts with label adoptee rights. Show all posts
Showing posts with label adoptee rights. Show all posts

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 Ancestry.com 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 valid...at 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.