Update on the new autosomal DNA test from Ancestry.com

Many of you have been asking if I there are any updates in regard to Ancestry.com's new autosomal DNA test. I don't have much new information yet, but just a couple of tidbits to share:

1. Just before Christmas I received a kit from AncestryDNA with an envelope to expedite the sample back to the lab. It contained three swabs intended for collecting samples from inside the cheek and lips. The expedite request gave me the impression that they are getting close to releasing the first results.

2. Today I received a call from Ancestry.com in regard to the new DNA test. I was told that as soon as the interface is fully functional, results will begin to be released. They will not wait until they have all ~10,000 free kits processed to allow access to results, contrary to my earlier speculation.

3. Ancestry.com will not have a beta-testing period with the ~10,000 free kits before offering the test for sale to the public. I was told that the kits will be offered for sale as soon as the results start rolling in.

4. The folks at AncestryDNA are working "around the clock" to get the service ready to roll-out, more reason to suspect the first wave of results will be available very soon.

5. A contact from Illumina told me that they are not the provider of the genotyping chip in use by Ancestry.com. I was surprised since Ancestry.com has announced that (like the Illumina OmniExpress Plus Genotyping Beadchip) their test will cover 700,000 "markers". I have not received any information as to what chip they might be using from Ancestry.com.

I am looking forward to seeing the results! Ancestry.com has made a substantial investment to enter the autosomal DNA testing market and has great potential due to the ability to attach DNA results to the already existing family trees on their site. As a result, I am optimistic that this test will be a positive addition to the current options for genetic genealogists. I will post a review of the service as soon as possible.

"Your Genetic Genealogist" Appointed to Lead 23andMe's Ancestry Ambassador Group

As some of you may have already heard, I was chosen to lead the new Ancestry Ambassador Group at 23andMe. You can read the full announcement on the Spittoon here. I am delighted to have this opportunity to work closely with 23andMe and the outstanding panel members: Dr. Ann Turner, Larry Vick, Dr. Tim Janzen, Andrea Badger and Shannon Christmas, to further the interests of the genetic genealogy community and to promote autosomal DNA testing for genealogy. In our extensive discussions, both Anne Wojcicki and Mike Macpherson have already proven to be very interested in and committed to improving 23andMe's ancestry product and demonstrating to the genealogy community that they value our business. I am very excited about the future of the genealogy customer and ancestry related products at 23andMe.

I do want to assure my readers that I will continue to function as an objective reporter of genetic genealogy related news and a supporter of all companies who serve our community well. I accepted this volunteer position as a means of promoting genetic genealogy and assuring that genealogists' interests are in the forefront of 23andMe's priorities, however this appointment does not mean that I will cease to support other deserving companies in the DNA testing world. Specifically, I am and will continue to be a big fan and supporter of Family Tree DNA. I believe in encouraging people to test, regardless of which company they are using as long as that company delivers a valuable product. I believe in the greater good of promoting this industry, educating and influencing the consumer to participate. This is where I direct my efforts and my passion. I will continue to criticize and praise whenever I feel it is called for, but will always offer solutions when I can in an effort to minimize public backlash that can only hinder the furtherance of our avocation. I invite all of you to do the same.

Since this new position is intended to represent you, my readers and the genetic genealogy community, I would like to receive feedback on what you would like to see at 23andMe in 2012. What improvements, changes, additions would make you a happier customer, a happier genetic genealogist? I have already started a thread in this regard in the 23andMe community forum, but since not everyone participates there, I would welcome comments and ideas here as well. You can also email me privately at the address listed here on my blog. I look forward to hearing your thoughts. Thanks for your readership and participation.


[Disclosure - my company StudioINTV has an existing production agreement with FTDNA that has no bearing on the opinions I express. I also receive a small commission from FTDNA on non-sale orders through my affiliate link, which I use to fund DNA tests. I am currently serving in a volunteer advisory position for 23andMe, for which I may receive a small number of 23andMe kits for my DNA research.  Any opinions that I express here on my blog are my own and do not reflect those of management at either company.  I receive no other compensation in relation to any of the companies or products referenced in my blog.]

Using Public Y-DNA Profiles to Track Down Criminals: Would You?

For the last couple of days, the genetic genealogy world has been inflamed by the news that a 20-year-old Washington murder case has being re-examined in light of a Y-DNA analysis performed by the forensic genealogist, Colleen Fitzpatrick. Many surname DNA project administrators are, understandably, extremely concerned about the implications and repercussions of this national story on DNA testing for genealogy. I hesitated to write about it because it has stirred such strong feelings in our community, but finally realized that is exactly why I must write about it. Many would prefer to sweep it under the rug because of the damage it could do to our avocation, but as the story has been picked up by national news outlets, I have reached the conclusion that this is no longer realistic. As a result, I will add my voice to the discussion.

Apparently, Fitzpatrick utilized the public Y-DNA databases such as Y-search and, possibly, public surname DNA projects in an attempt to determine the potential surname of the murderer of 16-year old cheerleader, Sarah Yarborough of Federal Way. Blaine Bettinger of "The Genetic Genealogist" gives a good overview in his post, so I won't rehash the details here, except to say that I share the concerns of many in the community that in the sensationalism, the probability of the killer bearing this particular surname has been overestimated. I also worry along with my colleagues that these types of stories could discourage some people from participating in DNA testing for genealogical or other non-essential purposes. While I think these are important considerations, we may be focusing on the wrong things.

Bettinger emphasizes that this is, in reality, not a new technique. Along those lines, I'd like to share a comment that I wrote to the ISOGG mailing list for project administrators in October of last year when a BBC article on the FBI's potential use of familial DNA, including Y-DNA, was introduced and discussed. When another member wondered where law enforcement might get its matches, I responded, "Our surname projects." Met with skepticism, I explained:

Because many FTDNA surname projects are the best and most thorough source of Y-DNA research for many surnames. I wouldn't think they would use individual results, rather the surname research as a whole to compare Y-DNA samples against. For instance, "Anonymous Sample X matches Group Two of the well-researched XXYZX Surname DNA Project."  Hmmm...maybe we should be looking at male XXYZXs in the area?
Yes, because of the absence of chain-of-custody maybe they couldn't use these databases for proof in court, but they could certainly use them to get leads. If you are saying that these projects are meaningless because people may use aliases when they test, then all of our combined surname research has been pointless.
What other options are there if they [law enforcement] are now interested in Y-DNA, assuming in the past they have routinely only tested CODIS markers? For them to retest all of the existing samples for Y-DNA and create surname matching databases? That seems like a very time and money intensive proposition. I know that presented with an alleged criminal's anonymous Y-DNA profile most of us here could, in some cases, pinpoint the likely surname without much difficulty using our public resources - Y-search and public surname projects. What would stop the FBI from doing the same? How do we know that they don't already?
I've been thinking about this for awhile. If one of my loved ones was murdered and I had access to that DNA sample, you better believe that I would be using our databases to try to figure out who was guilty. Wouldn't you? 
Am I wrong?

No one wanted to discuss the subject then. 

I'm not claiming to be clairvoyant, in fact, this was bound to happen sooner or later. If it was an obvious possibility to me, someone who has no experience in law enforcement and doesn't even watch CSI, it had to be abundantly clear to those in a position to be able to do something about it. The Yarborough case may be the first time these tools have publicly been used for this purpose, but we would be naive to think it is truly the first time these methods have come into play in the process of an investigation of this kind.

Fortunately, I believe that we still have a leg to stand on when we tell our potential project members that law enforcement cannot use their DNA, tested by genetic genealogy companies, against them. As I also wrote that day on the mailing list:

I also strongly believe that YOUR (as in a single testee's) sample cannot be used against YOU because of the chain of custody issue...I just believe that our PUBLIC databases (not FTDNA's private database) are a resource in which GROUPS of samples combined with our research can be used against criminals and I am all for that!

I am aware of the ethical arguments for and against this practice, but, in my opinion, what it comes down to is this: If one of your loved ones was murdered and you believed that you could identify the guilty party using the same resources that we use for our hobby...wouldn't you?


Related Stories around the blogosphere (for more excellent analysis of these issues, please also read the comment section below):

 "Does DNA Link 1991 Killing to Colonial Era Family? by Blaine Bettinger of The Genetic Genealogist

"Unexpected Use of DNA" by Debbie Parker Wayne of Deb's Delvings in Genealogy

Generational Surnames and Autosomal DNA Matching by Roberta Estes

Please welcome my guest blogger today, Roberta Estes, owner of DNA Explain. Roberta was one of the early DNA surname administrators and pioneer adopters of DNA analysis for genealogy, now managing over 20 surname projects including the large regional Cumberland Gap Y-line and mtDNA projects with over 1000 participants each. The Cumberland Gap mitochondrial DNA project is the largest mitochondrial DNA project worldwide. Roberta founded the Lost Colony Genealogy and DNA Research group in 2007 which includes the Lost Colony DNA projects. Additionally, Roberta is the Midwest Regional Coordinator for ISOGG.  She has been a genealogist since 1978.

I share Roberta's interest in assisting adoptees to discover their roots and am happy to present the conclusions from her recent survey of both 23andMe's Relative Finder and FTDNA's Family Finder customers, written by Roberta herself:

My interest in this topic is due to the number of adoptees I work with. DNA testing for genetic genealogy often represents the best, if not the only hope to adoptees of finding their genetic families.
I'm working with a woman who has two possible surnames to work with. Both are possibilities and the answer could be that neither of these surname is the right one. However, I've managed to put together some genealogy on both lines and I wanted to know how often people are finding matches in the genealogy data bases at Family Tree DNA and at 23andMe for their surnames represented by their parents, their grandparents, and their great-grandparents. For this exercise, I don't care how many matches to each surname they have, only IF they have any match to that surname.
For example, if your parents surnames are Smith and Jones, for example, and you have any matches that include the surnames Smith or Jones in their surnames listed as their ancestors, the answer is yes. If both Smith and Jones have matches, then you have 2 for 2 in the first generation.
The second generation, grandparents, includes 4 surnames, the 2 represented by your parents plus two more, your mother's mother's surname (Anderson) and your father's mother's surname (Ferverda), for a total of 4. If Smith and Jones are already represented, then we need to determine if Anderson and Ferverda have matches. Let's say neither do, so for this generation, you have 2 of 4 possible.
For the great-grandparents generation, we add 4 more ancestors, for a total of 8. Let's say that those surnames are Moore, Brown, Quincy and Scott and let's say that only Scott shows up in the list of surnames of your matches. So for this generation you have 3 of 8, your two parents, plus Scott.
The real question here is what is the likelihood that someone who is adopted will find their biological surnames in the surnames listed by their matches.
An ad hoc survey on both the ISOGG and the DNA-Genealogy lists in January 2012 received results for a total of 57 people who had been tested. A couple of people provided only partial information for a variety of reasons, so the totals in each group are slightly different.
Of the group who replied, for the first generation, their parents, the following was found:
* 20 people had no matches to their parents surnames
* 21 people had one match to their parents surnames
* 14 people had matches to both of their parents surnames
What this means to adoptees is there is a 38% likelihood that none or one of your parents surnames are represented in your matches. There is a 25% likelihood that both of your parents
surnames are listed. Overall, there is a 64% likelihood that you will find at least one of your parents surnames listed in your matches. Of course, the question remains, which surnames are which.
Moving to the second, grandparents, generation we find the following.
* 16 people had zero matches to any of their 4 grandparents surnames
* 14 people had 1 match to their 4 grandparents surnames
* 11 people had 2 matches to their 4 grandparents surnames
* 7 people had 3 matches to their 4 grandparents surnames
* 6 people had matches to all 4 of their grandparents surnames
This means that there is a 30% chance that none of your parents or grandparents surnames are found among your matches. However, there is also a 70% chance that at least one of your grandparents surnames will be found among your matches. There is only a small chance, 7%, that all 4 of your grandparents surnames will be found among your matches.
Moving to the third generation, great-grandparents, we find the following:
* 11 people had zero matches to any of their 8 great-grandparents surnames
* 9 people had 1 match to their 8 great-grandparents surnames
* 6 people had 2 matches to their 8 great-grandparents surnames
* 12 people had 3 matches to their 8 great-grandparents surnames
* 7 people had 4 matches to their 8 great-grandparents surnames
* 4 people had 5 matches to their 8 great-grandparents surnames
* 2 people had 6 matches to their 8 great-grandparents surnames
* 4 people had 7 matches to their 8 great-grandparents surnames
* 1 person had matches to all 8 of their great-grandparents surnames
There is a 20% likelihood that none of your parents, grandparents or great-grandparents surnames will be found among your matches. However, there is also an 80% likelihood that at least one of those 8 surnames will be found among your matches.
The results of the 3 generation, 8 surname survey, when plotted, take the shape of the traditional bell shaped curve, with a lump that would likely smooth out with more samples. Twenty one percent of the people will find 3 of their 8 grandparents surnames among their matches.
Most people told me where they tested, or I could easily discern the information due to the test
name. Many of them also included their total number of matches. The total of matches at 23andMe was, as a rule, was between 4 and 5 times the number of matches at Family Tree DNA. However, the commentary was pretty uniformly that people were disappointed with the contacts, or lack thereof, at 23andMe, in general, and when contact was made, that many had either no interest in or little information on their genealogy, rendering the contact useless or nearly so. One person wondered why someone would test at Family Tree DNA if they weren't interested in genealogy, so the response problem is not unique to 23andMe clients.
Of the people who responded to the survey, 13 of them had tested at both 23andMe and Family Tree DNA. Those results are included separately. Of these at the 8 surname level, there were a total of 21 matches at Family Tree DNA and 34 matches at 23andMe, so testers are obtaining more surname matches at 23andMe, but only about one third more, not in proportion to the 400% to 500% more matches than at Family Tree DNA. This is likely a direct reflection of the number of people at 23andMe that are interested in the health information and not in the genealogical aspect. However, one would think that if they went to the trouble to enter their surnames, they would have some interest in family history.
Interesting aspects were that maybe half of the people had some complicating factor, such as a highly endogamous population or a patronymic population, both of which clearly affect the potential of finding matching surnames. Equally as interesting was the one man who had no matches for any of his 8 grandparents surnames but had relatively "vanilla" colonial American surnames.
As both data bases increase in size, I would expect the numbers and percentages of matches to rise as well. The message here is that today, in January of 2012, for adoptees, there is about a 38% chance that one of your parents surnames is found among your matches, a 64% chance that one or both of your parents surnames will be found, a 70% chance that one or more of your grandparents surnames will be found and 80% chance that one or more of your great-grandparents surnames will be found.
 
- Roberta Estes copyright 2012

Petition urging 23andMe to reconsider their new unpopular subscription policy

Ten days ago I wrote a post about 23andMe's change in policy regarding their customers' access to the genetic-data-based information in their accounts, such as Relative Finder and health reports, after subscription expirations. As expected, this new policy has proven to be extremely unpopular with the genetic genealogy community.  Although I have had some direct communication with senior management at 23andMe, there has, so far, not been any public statement from the company addressing this issue. I am cautiously optimistic that once the holidays are over and things return to normal at 23andMe, there will be a satisfactory outcome to the community's concerns.

In the meantime, the highly respected genetic genealogist and well-known 23andMe customer Larry Vick has created a petition to make sure this issue continues to get the attention it deserves until 23andMe reaches a critical decision about their company's future relationship with the genealogy community. I think we all recognize and appreciate the extremely valuable contributions 23andMe has made to our hobby thus far and very much hope that this issue can be resolved to everyone's satisfaction. It saddens me to read on various forums statements such as "No one in the genetic genealogy community recommends 23andMe any longer." (Dec 22, 2011 - The Norway DNA Project Facebook page). As Dr. Ann Turner recently wrote on 23andMe's forums, echoing many of our thoughts, "I hope 23andMe's revolutionary contribution is not forgotten in the midst of this debacle."

If you are concerned about this issue, please sign the petition here.

Let's hope the New Year brings a positive resolution to this unfortunate turn of events for 23andMe and all of us.

Adoptee Reunites with Birth Family at 23andMe

For a little over a month, many of us have been following the story of an adoptee who tested at 23andMe on a whim and amazingly found a 27.3% DNA match in their database. Today, finally, there is a happy resolution.

Dan had always planned on finding out more about his birth family, but had not taken any steps in that direction until one day a few months ago when he saw a GroupOn offering a discounted 23andMe test. He ordered the test and waited for his results. Initially, he didn't fully investigate his Relative Finder list. When he did so in mid-November, he received quite a surprise. He had a 27.3% female match with the same mtDNA. This meant that his maternal aunt or half-sister (or, less likely, niece from a full sister) had already been tested at 23andMe.

Here is Dan's own summary of his discovery:

 I decided to have my DNA tested on a whim one day as the result of-of all things-a Groupon deal! I had always known that eventually I would seek out my birth family, and the timing was right. To make a long story short, a few months after my results came back, I finally clicked on the "Show Close Relatives" button, and lo and behold, a major match showed up. 27.3% on the maternal side. The good folks here in the community helped me figure out that it would have to be either my bio-Mom's sister, or my half-sister. Stunning news, to say the least.

He immediately sent an invitation to connect to his relative and then turned to the 23andMe Community for confirmation of what he thought he had found. He received an outpouring of support, advice and very interested followers, including me. Throughout this long month, we have all hoped that Dan would receive a response from his match. Personally, I checked almost every day on his progress. With the days drawing on, many theories were developed and ideas for alternate avenues of searching explored, but in the end the DNA test was the answer.

Yesterday, Dan's half-sister logged into 23andMe and received his note. I am so happy to report that she and his five other half-siblings are ready to welcome him with open arms. I have to say that they are lucky to have found a brother such as Dan has proven to be throughout the waiting. From his postings in the 23andMe community forum, he has shown himself to be a caring, thoughtful and well-balanced individual with a lot to offer his new-found family. Obviously, his adoptive parents deserve credit for doing an outstanding job. Kindly, his "new" sister even posted to the very extensive thread concerning Dan's discovery and introduced herself to all of us interested 23andMers. This resulted in many tears of joy from Dan's supporters.

This story is one of hope and encouragement for all adoptees still searching for their biological families. It is also a testament to the power of DNA testing. As the DNA databases grow, I am confident that this type of story will become commonplace. I am, and have been for sometime, committed to helping adoptees utilize their DNA results to learn more about their ancestry, especially in light of the unjust laws on the books of so many states blocking adoptees from their inherent right to know who they are and from where they come. Let's hope this story inspires more adoptees and birth families to DNA test, especially those who have exhausted the traditional avenues of self-discovery and have lost hope.

I hope to post more on this story as it develops and would like to extend my best wishes and congratulations to all parties involved. Dan and his "new" family have received the best Christmas present imaginable. Happy Holidays to all!

23andMe changes terms for expired PGS subscription customers

As my readers well know, I have long been an outspoken and dedicated advocate of 23andMe. I'm sure that many of you have become customers after reading my posts. I am very disappointed to have to report that today, for the first time, I was hesitant to recommend 23andMe to a person who contacted me for advice on DNA testing.

Apparently, 23andMe changed their terms of service for v3 customers without notice [Update - 23andMe states that the TOS were not changed, only the FAQs.] According to the new FAQ section under Personal Genome Service, customers who allow their subscription to lapse after the original commitment of 12 months will NOT have access to their Relative Finder matches, Health Reports and all other features that "rely on your genetic data". The new section reads:

If you cancel your subscription, you will no longer have access to the items listed below:

• Access to hundreds of comprehensive reports that interpret your genetic data
• Continual updates to those reports, based on the latest research discoveries
• Ability to share and compare results with friends and family
• Tools to discover new relatives and learn about your ancestry
  

We retain your raw genetic data within your 23andMe account, allowing you to download it at any time, even after you cancel your subscription.
You may reinstate your subscription at any time in the future.
If you cancel, you will be unable to share and compare results with friends and family.
If you cancel, people whom you are sharing genomes with will be unable to view your results or compare results with you. It will be the equivalent of you not having shared in the first place.
Canceling your subscription means you no longer have access to features that rely on your genetic data. Canceling has no effect on features that do not rely on your genetic data, such as user-to-user messaging, 23andMe Community, Family Health History, Research Surveys or Research Snippets.
We encourage you to continue using these features, even if you decide not to subscribe to the Personal Genome Service.

This is a direct contradiction to what I was told directly by a company representative (with the understanding that I would publish it) back in November 2010. Additionally, the old FAQ were clear that customers would retain access to their existing Relative Finder, but would not receive NEW matches after they let their subscription lapse. I published this info on my blog and this encouraged some of my readers to buy under these terms. From my post of November 24, 2010 (note: the following link is dead), 
"...according to this new FAQ, it should be noted that new customers will no longer receive updates, including new Relative Finder matches, if they cancel their PGS subscription, however they will still have access to any existing reports, matches, features and their raw data."

The Terms of Service under Acceptance of Terms states,
You can accept the TOS by (1) clicking to accept or agree to the TOS, where this option is made available to you by 23andMe for any Service; or by (2) actually using the Services. In this case, you acknowledge and agree that 23andMe will treat your use of the Services as acceptance of the TOS from that point onwards. In addition, when using particular 23andMe Services, you shall be subject to any guidelines or rules applicable to such services that may be posted from time to time...

Apparently, by continuing to use their services, we have all agreed to this change even though we were never made aware of it.

I am hoping that 23andMe will rethink this new position.  As is apparent on their Community Forums, even their staunchest supporters (who have been responsible for thousands of sales as well as spending endless hours hand holding new customers in the absence of good customer support) are rethinking their allegiance to 23andMe. Perhaps, this has all been in reaction to FTDNA's announcement that they will soon be allowing uploads of 23andMe v3 raw data to their Family Finder platform. If so, this action is only serving to alienate those who have shown loyalty and support to 23andMe and would have continued to do so. At least they are still allowing raw data downloads, since migrating to FTDNA and/or GEDmatch.com will be the best option for those who do not wish to pay a subscription fee for life.

This is terrible news for those of us who have spent an inordinate amount of time trying to make the most of the Relative Finder feature. I am very glad that I did not upgrade any of my v2 accounts, but I am concerned about the vast amount of information still waiting to be discovered that will soon be lost with my matches who choose not to renew. This decision on the part of 23andMe is honestly bewildering to me. Let's hope 23andMe soon makes a public statement clarifying their intentions.

[Update - 23andMe is willing to listen to our concerns.  A company rep just posted this in the forums:  Again, we are sorry for our poor communication about the subscription changes. We make mistakes, we're human- it's in our DNA. We want to assure you we are listening and we want to hear more. We've created a space for you to post your specific concerns so that we can be sure that you have a voice as we discuss these changes moving forward- http://bit.ly/uk6xqk 
This form helps us more efficiently share your input with teams across the company.
I encourage all of my readers to let your voice be heard!]

[[Update - Please sign the new petition addressing this issue: http://www.yourgeneticgenealogist.com/2011/12/petition-asking-23andme-to-reconsider.html]]