Friday, March 30, 2012

New Information on's AncestryDNA Product

I participated in a webinar/conference call yesterday with a small group of bloggers and the DNA executives at to explore their new autosomal DNA test - AncestryDNA. This was in addition to an earlier private call with the AncestryDNA team that I haven' t had a chance to blog about yet. This team has been working on this product for over a year now so, not surprisingly, they have a lot or interesting things to say about it. I know that many of my readers have been very curious about the details of this test, so I will share as much information as I can from these calls, using direct quotes whenever possible so as to not mischaracterize their statements.

Although some of the images below may look familiar from my earlier posts, I am recycling them to illustrate and identify key components of the product that we discussed on the call. Any of the images can be enlarged for closer examination by clicking on them.

Keeping It Simple
As I have mentioned before, the folks at have attempted to keep the science involved with interpreting the genetic data simple for the layman and have done a very good job of presenting the ancestry information in a straightforward, easy-to-understand fashion. There are many informational pop-ups that explain what the customer is seeing on their screen as well as easy-to-use tools that assist the customer in identifying the common ancestor(s) with their matches.

Ken Chahine, Senior VP in charge of DNA, perhaps in response to my earlier characterization of their new product, specifically emphasized that this is cutting edge science (especially their BGA feature) and that they definitely want to serve both the beginner and the advanced genetic genealogist with their AncestryDNA product, adding, "I hope going forward that people realize that while we made the user interface very, very straight-forward that it does not in any way represent 'dumbed down science' and to the contrary, to be able to give you...[the specific genetic ethnicity labels]... is taking what I would consider probably the best population genetics research that is out there right now." Some of their statements regarding progress in this area (detailed later) sound promising, so I will reserve further judgment until I get a chance to thoroughly investigate the final product.

Streamlining the work of autosomal DNA matching
This is probably the most significant advancement for genetic genealogists who are using their autosomal DNA to identify common ancestors with other genealogists. At AncestryDNA your matches' trees are automatically compared and shared surnames and birth locations are clearly listed. When possible, shared common ancestors are even identified with those familiar little "shaky leaf" symbols. You can view a seven generation pedigree of your match's tree right on the screen with a link to the actual tree for exploring more generations. According to Chahine, by having the trees readily available on the site with their commonality instantly identified, thus cutting down on the legwork traditionally associated with tracking down the common ancestor between matches, they have produced quick and easy confirmation of common ancestors between many of the Beta testers. I'm not surprised to hear this and look forward to exploring my own results. (The only problem is that I will have to ask these confirmed relatives to test at 23andMe or FTDNA, so I can get the specific segment information to add to my chromosome mapping charts.)

Admixture Analysis Tool - "Genetic Ethnicity"
As I've said before, this is a very strong feature with impressive and attractive graphics. They are presently using 22 different labels to identify the unique populations to which they are matching our DNA with the "Genetic Ethnicity" feature. These are drawn from reference samples from many different sources, both public and proprietary. The number of specific categories will likely increase. (Population reference samples are compiled from "anchors" which are individuals whose families have been in one place for generations.)  These categories include Jewish and both Native North American and Native South American. There is also an "Uncertain" label that is used when your DNA matches one or more ethnic regions with too little information to confidently predict. In some cases, they stayed away from geography for the "ethnicity" labels since that isn't always representative of ancestry. I learned that they are not yet showing Beta testers the African detail that we saw on the Blair Underwood WDYTYA episode, but plan on doing so in the future.  While stating that this has "never been done to the level we have done it", they repeatedly emphasized that this feature is still in Beta and will undergo changes and improvements based on the Beta test feedback.

Genetic ethnicity versus family tree
AncestryDNA explores the relationship between your family tree and your genetic results. They do this by comparing your predicted "ethnicity" to the actual birth locations of your ancestors in your tree. The birth locations from your tree are also shown in total percentages in order to make it easy to compare to your "genetic ethnicity" percentages.  If none of the places in your tree match up to some of the hints your DNA is giving, perhaps there are new avenues to explore that might result in overcoming genealogical brickwalls, by giving clues to the "ethnicity" of your ancestors with unknown origins.

Common Ancestral Origins Between Matches
AncestryDNA will compare your "genetic ethnicity" to that of each of your matches and attempt to isolate the "genetic ethnicity" of your common ancestor based on the overlap. In the second image below you can see that there is only a small commonality between these two participants' admixture results, so the idea is that the common ancestor is very likely to be of the identified shared "ethnicity". This allows you to focus in on a particular branch of your family tree or provides a hint of what may lie just beyond one of your genealogical brickwalls.

Plotted Birth Locations
One screen plots birth locations on a map, pulled from both your match's tree and from your own, highlighting common locations (seen in the first image above). Ken Chahine said that this feature has been "a remarkably valuable tool" so far in the Beta phase, explaining "that when you can't find the common ancestor, frequently what you find is common locations of individuals who have been in tiny towns in the East Coast of the United States in the 1800s", thus giving the ability to hone in on locations that may have only had several thousand people a few generations ago, offering an "opportunity to look at the research" in a unique way.

Relative Matching with Confidence Levels
The confidence levels shown on the right hand side of the match list is based on tests run using 200 real individuals with 30,000 or more possible relationships between them. This confidence number tells you what percent of the time the AncestryDNA's relationship range predictions corresponded with the actual real data in their experiments. For example, in the graphic below, you can see a 96% confidence level for Match #2.  Chahine explains, "We ended up...calibrating our algorithm, so that we could tell the customer, if we find a 4th cousin how confident we are that that person really is a 4th cousin, and...about 96% of the ones we identified in our experiments were, in fact, 4th cousins." (It was later clarified that he meant that they will fall within the predicted range, which for 4th cousins as seen in the image below is 4th - 6th.) He went on to say, "I would argue for the 4th cousins you should be trying pretty hard [to find a common ancestor] because our data suggests that this person has a very, very strong likelihood to actually be a 4th cousin."

They also just added a pretty useful little sliding bar for easy filtering of matches of different degrees of predicted relationships, allowing you to focus in on closer relatives or, instead, explore all of those more speculative matches who may share an ancestor with you in the last ten generations or so by including the "Distant Cousin" category (5th cousins or further) in your display. 

Chahine noted that even at the 50% confidence level, some Beta testers have been able to confirm a common ancestor with their matches. He recommended (in line with my usual advice) that testers at least look over these more distant matches to determine if there is any low hanging fruit, such as already identified common ancestors, surnames or locations.

It was explained that the matching system is "dynamic" with data "pulled live" when you confirm a common ancestor with a match, thus "increasing the power of the product".

One other convenient feature is that the person who administers the kit is listed in addition to the actual match's "name".  As genetic genealogists well know, they are not always the same person. It is also noted how long the administrator has been a member of and their last sign-in date.

Privacy and Family Trees
The DNA interface observes the global privacy settings that each customer has on their account, meaning that if your tree is private, it will not be linked to your results. Your matches will be required to contact you for permission to view your tree, as is always the case on the site. No privacy settings have been or will be compromised.

On another note, I have heard from Beta testers that recently more and more of their matches are attaching their family trees to their DNA results. This is quite essential for success.

Timeline and Beta
The test is currently in a private Beta phase. They advised us that the results that we have seen so far are in "no way the final product". They explained that AncestryDNA wanted to put something "lean" out there for Beta in order to receive feedback and get a better sense of what the needs of their customers are before finalizing the product.

We were told that more results should be out in the "next few days". Whether that meant for our group specifically or the next wave of Beta testers, I am not sure. Either way, they said that they "will be getting it out to more and more customers throughout this year". They also commented that their team has "a lot to add" to what we have already seen in Beta and said these additions are "right around the corner".

Feedback from Beta 
They have been very happy with the constructive feedback they have received. John Pereira, VP of Business Development, said they are "absolutely inundated with feedback so far and they have to sift through that" before the general release. They have also been "incredibly surprised" with the quality and quantity of confirmed matches already. Chahine enthused, "It has been amazing how many have already found their common ancestors!"

Plans for the future
The team said that their goal is to provide "the very best test that is out there" and "they really want to be a leader in the space". Pereira emphasized that their focus is to combine the genetic information with already existing Ancestry content for ease of use, but assured that they do intend to "get more tools out there to help the customers" streamline their advanced research. He said to expect the product to change rapidly and advised us to "keep coming back to the site because there will be lots of new changes". We were advised that providing the raw genetic data and specific segment matching information are "in the queue" of potential future additions to the product, as is allowing raw data uploads from 23andMe and FTDNA. They made it clear that they are not opposed to these ideas, but they cannot guarantee what will be included with this product in the future because "it is a moving target" with "priorities changing every day" in response to feedback from the testers. (So, if the actual genetic data is important to you, please let them know!) Pereira shared that they will likely add points throughout the site where advanced customers can "dive down into the science", while keeping the basic user interface relatively simple (this may include more detailed genetic info) and that they definitely have plans to answer the questions in regard to the deeper science once they have a good sense of what those questions really are. The team said that they are very happy with the product they have put forward so far, but are "even more excited" about the improvements that are expected in the future.

Responding to my query, Chahine acknowledged that they are looking at solutions for the challenges of relative matching for endogamous populations like Ashkenazi Jews and that it is "really high on the list" to come up with special algorithms that deal with various populations that are not predicted well with the current matching algorithm.

They plan to eventually send email updates to customers, advising them of new matches and possible common ancestors like they currently do with family tree hints.

They have no information on future pricing at this time.

Other interesting tidbits
Ken Chahine confirmed my suspicion that Y-DNA was used in conjunction with autosomal DNA in the WDYTYA Blair Underwood episode that caused some controversy over the seemingly exaggerated exactness of the 10th cousin prediction. Chahine explained, "We were able to take Blair's African component from an autosomal test and actually assess that...his DNA signature was most closely associated with a tribe that was identified in Northwest Cameroon and then we ended up using a Y-DNA marker to help us identify a potentially distant cousin, which we did, and the episode introduced Blair to that distant cousin. What I was really amazed about was how well the science integrated, so on the ethnicity side, the match and the ethnicity were very, very close to each other in terms of geography."

We've all been waiting for what seems like an eternity to see what will do with this new test. I appreciated the opportunity to get a good look at it and to be able to share it with my readers. As I have stated before, this test has a lot of potential for encouraging the masses to try out DNA testing, but it needs to go further with the details of what's happening "under the hood" to satisfy the serious genetic genealogy researcher. I think they realize this and will take steps in this direction. Will it be enough to win over the genetic genealogy community? Time will tell and I will keep you updated, as always.

**Update - Leave it to Blaine Bettinger to pull it all together for us! He blogged about his thoughts from this same call over at The Genetic Genealogist and his take is well worth the read:'s AncestryDNA Product. **

[10/26/12: This test is now out of Beta, so you can order it here.]

Monday, March 26, 2012

"Finding Your Roots with Henry Louis Gates Jr." - DNA in The First Two Episodes

Last night was the premiere of PBS' Finding Your Roots with Henry Louis Gates Jr. with two episodes featuring 1) musicians Harry Connick Jr. and Branford Marsalis and 2) politicians Cory A. Booker and John Lewis. Although I enjoy any television show that brings genealogy into the public eye, I think this series is much more fulfilling for the serious genealogist than NBC's Who Do You Think You Are? In this new series, as in all of his past genealogy shows, you can count on Dr. Gates to present a well laid out, thought provoking story - he never disappoints!

I was really happy to see that genetic genealogy was integrated into both of the night's episodes. It was also great to see that both of my favorite DNA testing companies 23andMe and Family Tree DNA were featured in the show.

In the first episode, in a really fun segment, Dr. Gates DNA tested his friends from the barbershop to determine their genetic makeup. Early in the show, he had each of them guess what percentage of their ancestry was African, European and Native American and then, later, shared with them their actual results. Although they showed a swab collection kit instead of the usual 23andMe spit tube (probably because it was more telegenic), I am quite sure those results were from 23andMe's Ancestry Painting feature that examines a tester's DNA one segment at a time and determines for each stretch whether it was most likely inherited from ancestors in Africa, Europe or Asia (a stand-in for Native American in this case). I thought Gates' presentation of his friends' ancestral origins results using a pie chart format rather than 23andMe's usual 22 chromosome chart was a good choice for the television audience. 

I did feel like a good opportunity for demonstrating the application of Y-DNA testing (offered by FTDNA) was overlooked during the portion where Dr. Gates determined which of the men were the progenitors of Branford's direct paternal line based on the marriage records. Perhaps, Gates and his producers had more information than we in the audience did, but it seemed that a Y-DNA test would have been a more reliable tool for reaching the conclusion that Branford's great-great grandfather was Isaac Black than basing it on the absence of a signature on a marriage license.

The second episode illustrated one of my favorite uses of autosomal DNA by testing Michael Hislop, the theorized (half) second cousin of Cory Booker, and confirming that they were indeed both great grandsons of Dr. Stephen H. Brown (full second cousins would be expected to have an average of 3.125% of their DNA in common, in this case it would be half that since they only share one great grandparent, not two). Mayor Booker's family had an oral history that his maternal grandfather, Limuary Jordan, was fathered by a white doctor, but had no way to determine who that might have been until Dr. Gates' team (which included Megan Smolenyak for this segment) and this DNA test solved the century-old mystery.

Mayor Booker's newfound cousin Michael's comment in response to an inquiry regarding how he felt about being asked to DNA test for the show, was one all enthusiastic genetic genealogist would do well to remember before approaching relatives for their DNA. Implying that he was eased into the idea he reminded, "That wasn't the first conversation that we had!"

Strangely, the collection kit shown for this segment was undeniably a Family Tree DNA kit, but 23andMe's Dr. Joanna Mountain was the one who explained on camera how this type of test works. In reality, both companies offer this service - 23andMe's Relative Finder feature and Family Tree DNA's Family Finder can confirm familial relationships from siblings out to second cousins with confidence. Third cousins and beyond can also sometimes be confirmed, though with more difficulty and diminishing accuracy as the relationship becomes more distant.

23andMe prudently seized the opportunity to debut their new 15-second commercials as "bumpers" at the beginning and end of each episode. You can view them, vote for your favorite and enter a contest to win an iPad3 here.

I was very pleased with the application of and exposure for genetic genealogy in this fascinating new series and look forward to enjoying it every Sunday night through May 20th. I plan on writing a summary about the DNA portion after each episode for those who might want more information on the tests, the methods and the companies used - so be sure and check back!

***Blaine Bettinger shares some interesting insights into the use of DNA testing for this show on his blog The Genetic Genealogist.

 [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.]

Wednesday, March 7, 2012

New FAQ for AncestryDNA and notes on the "First Look"

It's too early to reach any solid conclusions, but now that I have had some time to spend looking around a bit, I have a few thoughts to share from the "First Look" at new autosomal product, which apparently they have named "AncestryDNA"- see FAQ below.
[10/26/12: This test is now out of Beta, so you can order it here.]

*The biogeographical ancestry analysis looks superb, hinting that may indeed have access to Sorenson's extensive reference samples.* -  So far, I have seen British Isles, Central European, Scandinavian, Southern European, Russian/Persian/Turkish (odd grouping), Eastern European, East Asian (includes Siberia/China/Southeast Asia), Finnish/Volga-Ural, Native American and Other, plus the German, French/Swiss and the African tribes that we saw on WDYTYA - Bamoun, Brong, Yoruba and Igbo. I hear there are also Middle Eastern and North African categories. The announcement on my DNA page says, "We expect over time to deliver even more granular results (including regions within a specific country) as we get more data." This tells me that the BGA will continue to be the strongest part of this product. This is fitting since the majority of non-genetic genealogist seem to be most interested in this part of their results.

*No raw data or specific segment information provided.* - The simple, user-friendly interface is an effective method for introducing a complex product to the layman, but the simplicity leaves no room for the advanced genetic genealogist nor growth for the beginner. The lack of inclusion of these fundamental features cripples the genealogist wishing to identify which segments were inherited from specific ancestors. We must be able to triangulate between matches and known relatives to determine our common ancestor and thus identify a specific segment as being inherited from a particular ancestral line. These are exercises that are imperative to advancement in this science. To those of us who have been working with this data since its introduction ("Relative Finder" by 23andMe in 2009), the future of autosomal DNA research for genealogy must include the ability to link specific genetic segments to our ancestors. The goal is for others without extensive knowledge of or access to their genealogy (i.e.- adoptees) to be able to identify these segments in their own genome and thus discover their ancestors. Hopefully, these indispensable features will be introduced in the near future. [Update- In the comments below, one reader reports that he can download his raw data. I am following up to determine if this is the autosomal raw data.]

*Links to and comparisons between the matches' family trees and exploration of shared "ethnicity"* - This feature benefits from a very nice presentation. It is definitely a step in the right direction - to streamline the time-intensive process of investigating autosomal DNA matches and discovering their ancestral commonality. It sounds as if at least half of the users have already attached their results to their family trees. This is indeed promising.

*Match Lists* - So far I have heard that the current BETA testers have a match list anywhere between low 30's to upper 80's. However, apparently, some of the matches appearing on the lists have not yet received access to their results. appears to be have made a decision to appeal to the layman by "dumbing down" autosomal genetic genealogy. It is a good marketing plan to attract the non-genetic genealogist, but I just hope it is not's end-game.

A new FAQ just appeared on's site regarding their new test:
What should I know about AncestryDNA™
  1. What is AncestryDNA™?
    AncestryDNA™ is a new DNA product from that revolutionizes the use of DNA with family history. This test combines advanced DNA technology with the world’s largest online family history resource to provide genetic ethnicity and help discover new family connections.
  2. When can I get the new test?
    The new AncestryDNA™ test will be available on in the coming months. If you are interested in the new DNA test, provide your email address at and we’ll notify you when the new test is available.
  3. I live outside the U.S., when can I get the new test? is currently launching the new AncestryDNA™ test to the U.S. market. We hope to make it available to markets outside the U.S. in the near future; however, we do not have a date for this yet.
  4. Why would I want to take this new test?
    • This new test utilizes some of the latest science & technology in DNA testing for family history.
    • Both males and females can take this test.
    • Your results include genetic ethnicity information, along with matching you to others who have also taken the test and are related to you.
    • It tests over 700,000 markers as opposed to the 33/46 tested with the Y-DNA test.
    • The online experience has been updated to better view your results. 

Tuesday, March 6, 2012's Autsomal DNA Launch - First Look!

Biogeographical Ancestry Analysis - Click to Enlarge
Your Match's Tree and Common Surnames
Your Match's Ancestral Locations Compared to Yours

The names of those with whom you share matching DNA are provided, including links to their family tree (if they have connected it to their DNA results), as well as a clear presentation of common surnames and "ethnicity".

The biogeographical ancestry analysis looks superb, hinting that may indeed have access to Sorenson's extensive reference samples.

At this early juncture, there appears to be no specific segment info provided (i.e. - location of shared DNA), nor raw data access. If this continues to be the case, it will be extremely disappointing for any serious genetic genealogist.

Lauren Mahieu has posted a review and additional images on her blog GeneJourneys. Notably, she has 85 matches already!

***Thanks to Ben Moscia for the images!***

My thoughts on this "First Look" here. DNA testing

A Short Update on the New Autosomal DNA Test from - BETA is starting

I promised to continue to provide updates on's new autosomal DNA product to my readers, so here is the latest email from AncestryDNA:

As the anticipation is building about our new DNA product, I want to make sure you are privy to the latest news. In the next week or so, we will be starting to open early access to the AncestryDNA BETA site for our earliest testers. As DNA results become available, we will be notifying these early members so that they can view them. This process will continue over the next few weeks as results roll out.

Your DNA results will also be available soon...We are very excited to share our new product with you.

The long-awaited launch is near, although I have been told that I will not receive my results in time for my scheduled presentation at North San Diego County Genealogical Society’s DNA Interest Meeting on March 15th. I guess I will have to find a new subject...If you were going to attend what would you like to hear?

[I just received an email that, at least, one customer has already received their AncestryDNA results! Get the first look here.] DNA testing

Monday, March 5, 2012

"SNiP of the Week" - News from the World of Genetic Genealogy

This week in genetic genealogy:

1. An article on the site Seeking Alpha reveals that during fiscal 2012 has already invested between $10 and $15 million in their new DNA service. That is a huge investment. If they have spent their money right, genetic genealogists may be in for quite a ride.
On Feb 16th, the author's opinion was this, "[T]he company's earnings trajectory has been jeopardized (due to DNA), that growth in the UK will be challenging, and that NBC might not renew Who Do You Think You Are for the fourth season next year. Overall, we think management can do better." Hopefully, we won't all be feeling the same way when their new DNA product finally launches.
Since the latest episode of WDYTYA featuring Reba McEntyre had a huge jump in ratings with a "stellar 7.5 Million viewers", the stock review site has now revised their opinion and rates "a buy", apparently regardless of their huge investment in DNA. The analyst writes, "[T]here appears to be a strong and growing interest with people wanting to know more about their ancestry. Consequently,, Inc. appears poised for continued above-average growth in the future." Let's hope the analyst knows what s/he is talking about!

2. This week the international media has been reporting that Oetzi The Ice Man's full genome has now been sequenced. Judging by the paper in Nature Communications, this must have actually happened some time ago.  [I was under the impression that this was old news because I watched a program on NatGeo that discussed these very details last year. I believe it was in November 2011.] Regardless, Oetzi has been getting lots of press this week with his particulars being publicized far and wide, "...the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease."

3. Last Monday, 23andMe commemorated Rare Disease Day by campaigning to increase the enrollment in their studies on myeloproliferative neoplasms (MPN) and sarcoma (with free kits offered to those suffering from these diseases). By Friday they announced that they had reached their goal of 500 for MPN and were "just a few participants shy of 800 for Sarcoma".

4.  Finding Your Roots With Henry Louis Gates, Jr. will premiere on March 25 and run Sundays through May 20 at 8 pm ET on PBS.  This 10-part series will be similar to NBC's hit "Who Do You Think You Are?", with Gates investigating the family trees of his celebrity guests (Kevin Bacon, Robert Downey, Jr., Brandford Marsalis, John Legend, Martha Stewart and Barbara Walters are a few). The great news is that it appears that there will be more of a focus on genetic genealogy than on WDYTYA.  The Spittoon notes "Gates uses history and science, including 23andMe’s ancestry tools, to explore race, family and identity in each episode." Especially exciting, two of the scientists from 23andMe will assist Gates and his guests in discovering their genetic roots.
I very much enjoyed Gates' last series "Faces of America" and am really looking forward to this new series.

Thursday, March 1, 2012

Another Update on the New Autosomal DNA Test from - It's Almost Here!

I received this email today from AncestryDNA (funny they mention that we will be BETA testing since they told me that they wouldn't be having a BETA period before launch):

You’ve signed up to be one of the first. Your sample is in the lab. And you’ve been waiting patiently to hear back from us. Well, get ready! Our early access period will be starting soon.

Once your DNA sample is fully processed, you’ll be receiving an email from us with instructions on how to view your results.
So keep an eye on your inbox and get ready to experience the new AncestryDNA™ in BETA before it launches to the general public.

In a few cases, we may not have been able to collect enough genetic material from the test swabs to process your results. If your test is one of these, we will be contacting you with further instructions.

Thank you for your patience—we will begin rolling out results as they’re available.
As with any BETA program, we’ll need to work out a few kinks here and there, so please keep that in mind as we continue to improve the experience. We’re almost there!

Thank you,

The AncestryDNA team

Get the first look here.

[10/26/12: This test is now out of Beta, so you can order it here.]