Friday, March 30, 2012

New Information on Ancestry.com's AncestryDNA Product

I participated in a webinar/conference call yesterday with a small group of bloggers and the DNA executives at Ancestry.com 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 Ancestry.com 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 Ancestry.com 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 Ancestry.com and their last sign-in date.

Privacy and Ancestry.com Family Trees
The DNA interface observes the global privacy settings that each customer has on their account, meaning that if your Ancestry.com 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."

Summary
We've all been waiting for what seems like an eternity to see what Ancestry.com 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: Ancestry.com's AncestryDNA Product. **

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

34 comments:

  1. I have a cousin who submitted her DNA to Ancestry. I've had mine analyzed by 23andme. Is there a way that we will be able to compare results from these two different providers?

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    1. Hi Kathy,
      Unfortunately, not at this time. Since they do not release the specific matching segments or the raw data, there is no way to cross compare. You can, of course, compare your match lists to see if there is any overlap and your BGA (their Genetic Ethnicity to Ancestry Painting and Ancestry Finder at 23andMe) results.
      Thanks for commenting,
      CeCe

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  2. Do we know anything about the price of the test? I really like how this new test looks, but having already tested at ftDNA and 23andMe I'm going to have trouble justifying the purchase unless it's less expensive. Even if they are considering the "future addition" of transfers, I imagine that not going to happen for over a year.

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    1. Hi Valerie,
      No, they are not releasing any information on possible pricing. Thomas MacEntee asked about it and they did not want to discuss it at all.
      Thanks for commenting,
      CeCe

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  3. A useful summary. Thanks for keeping us informed. Is this technology eventually going to see the type of improved resolution for genetic genealogy that was provided for astronomy by the Hubble telescope?

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  4. Thank you CeCe for this insightful and detailed review. Do you know if they're going to do anything like FTDNA where you can import your results from another provider for a reduced fee?

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    1. Hi!
      When I spoke with them before the group webinar, they said that they are considering that option.
      Thank you for reading!
      CeCe

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  5. I guess how one interprets it those who are awaiting results could get their results back soon or be in for a long wait yet. I was in the initial 2,000 they invited to participate back in October, though they seemed to process these last as I have a Jan 24th processing date showing which is later than many of those who mailed in a sample. If they are only letting in a certain number of Beta testers at a time I guess I am towards the back of the line and have quite a wait yet. Hopefully those that are a part of Beta make it known that we need segment matching information or we are just flying blind. A chromosome browser and access to raw data is important. Hopefully there is an upload option at some point as I've tested my family members at 23andme and FTDNA and don't want to go through the trouble/expense of testing again.

    That being said I like the matching of trees feature and it seems like they are putting a big effort into this and looks very promising. Thanks for the update.

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    1. Hi Dean,
      I completely agree! Did you receive your results yet. They seem to be rolling in almost every day now!
      CeCe

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    2. Unfortunately I am still waiting.

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  6. I was invited to participate in early November and have a December 16 email from ancestryDNA letting me know that had received my sample and they would have my results in early 2012. I haven't heard anything since and when I log in to ancestry.com and view the ancestryDNA page, I see "In process 11/15/2011" which is probably about a week after I mailed in my swab.

    Any news on when ancestryDNA will let us know that our results are available?

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    1. Update - I received the email from ancestryDNA on Thursday, and blogged about my results tonight at DNA Test Results from AncestryDNA.

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    2. Nice job Elizabeth! I definitely think that the Scandinavian ancestry is grossly overestimated for many, including myself! Since they are still in Beta, I'm sure there will be adjustments. Did you send them Feedback?
      Thanks for the update,
      CeCe

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  7. Any discussions on how their predicted relationships can/will be adjusted for Jewish or other inbred population membership?

    I also have major concerns over the number of incorrect lineage associations present in individuals trees. These trees have not been corrected for a number of reasons and continue to be cross referenced in sites such as Ancestry.com. Does the system allow an atDNA association to be flagged as valid but documented inaccurately?

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    1. Hi WayneK,
      I did ask them about the "Ashkenazi problem" and other highly endogamous populations and they said that they are aware of it and working on a solution. In answer to one of the bloggers questions about the incorrect/misleading family trees, they just said that authentic DNA matches will show up regardless of people's trees and hopefully will help sort out some of the bad info that has been put out there.
      Thanks,
      CeCe

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  8. what is the reason for not providing the segment info like 23andMe?

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    1. Wish I knew, Jackson! They just said that it wasn't at the top of their priority list and they wanted to get out a bare bones Beta in order to get feedback and better learn what we want. Hopefully, everyone is sending feedback in that regard. If many are clamoring for it, I am quite confident that they will add this info in the future.
      Thanks,
      CeCe

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  9. Thanks, CeCe, for this fascinating, detailed review of what you've learned! It is impressive what they've developed -- I feel sorry for FTDNA, who have done so much for us with nowhere near the resources Ancestry has. Hopefully they'll be able to learn from this and adopt some of the more useful features.

    Personally I think I'll have to try it, for the genetic ethnicity estimates especially. I'm curious about what they'll say in comparison with FTDNA's estimates of my matching 89% with the Orcadians, 11% with Middle Eastern populations, while my father and brother are 100% matches to the French!

    If there's any chance to become one of the Beta testers, I hope you'll let me know about it. Otherwise, I hope it will be affordable!

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    1. Hi BES,
      I wish we knew what the pricing will be, but so far they have been silent on this subject. I agree with you about FTDNA and, incidentally, 23andMe also. Neither have the vast resources to pore into this venture, although both have been trailblazers for autosomal DNA testing for genealogy. Let's hope they will not be buried by the "600 pound gorilla"! Honestly, if AncestryDNA does not provide the segment info and the raw data, they will not appeal to those who know what they are doing and/or read our opinions. I want everyone to succeed and try very hard to be fair, but let's face it, the admixture tools still have a long way to go at all of these companies. It will take time to get this part of the science where we need it to be.
      Thanks for your comment,
      CeCe

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  10. I am looking to take an autosomal test as well as a maternal dna test. Which company do you recommend. I am looking for one that will test the most ancestors back on the autosomal test but still be accurate results. I can only afford to take it once right now. Do you think I should wait for the ancestry test to go public?

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    1. Hi Courtney,
      No, I don't think you should wait because we don't have any idea when it will be offered to the public or the price. If you can only afford one test, I would go with 23andMe since they give you the most "bang for your buck" right now (i.e.- matching plus haplogroups, the very active forums and Ancestry Finder). Then you can transfer your results to FTDNA's family Finder for $89 at a later time.
      Good luck with your test!
      CeCe

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  11. Just a heads up - I just received my mother's DNA results at Ancestry.com. I just looked and they were there even though I did not receive an email notification. It says they were completed on Feb 14th, which is strange since they weren't there yesterday.
    Go check your DNA page everyone!
    CeCe

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  12. I was hoping to test both my parents in order to distinguish which side of the family the matches come from.

    My Dad's order has been "processing" since Nov 15, 2011.

    I called customer service yesterday (April 4, 2012) to check the status of the test and to ask if there was a problem with the sample.
    I was told that there was no problem with the sample and that if there was a issue, I would have been notified long ago.

    Later that same day I received an email saying:

    "Unfortunately, after multiple attempts, we were unable to use the DNA sample you previously sent to Ancestry.com."

    It took 4 and 1/2 months for Ancestry DNA to determine this?

    Really?

    :'(

    A.J.

    P.S. Ancestry DNA is sending another kit for retesting. I wonder how long this is going take? Zzzzzzzzz

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    1. That's really too bad, AJ! I also received that email, but then got my results only two days later! Any news on yours?
      CeCe

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    2. I have already sent 2 tests in. I was informed within a week that they were unable to retrieve a dna sample. The second took about a month before I got the same message.

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  13. My results finally went live on my DNA page this week. What exciting stuff. The results were certainly at least partially expected, but it also contained a very large surprise which I'm still trying to figure out.

    There was a downside along with the excitement. I had been pretty smug about the tree I've been building at Ancestry, being very careful to include lots and lots of documentation, photographs, and original source material. However, building such a tree takes a lot of time so I have been concentrating on my direct ancestors more than on their siblings and this has shown me just how important knowledge of those siblings actually is. Because I've not yet included a lot of those siblings (at least on some branches) I am missing a lot of married surnames for the many female siblings. That is going to make finding connections with genetic matches a little more difficult for me.

    Another eye opening realization is just how important "place of birth" information is. It is easy to get lazy and enter Indiana, or Ohio in the place of birth for an ancestor....sometimes that is all we know based on a census, BUT I now see just how important it will be to be able to narrow that down to a county or town. If my genetic match has three people born in PA, and I have 5 people born in PA we really are not able to take full advantage of the tools this project has provided....it would be so much better if the genetic match and I could narrow it down to a much more specific location. So....I have my work cut out....go back and be as specific as I can with birth places....and start uploading ALL of the siblings for those families where I had not yet included them.

    As for my results: British Isles 65% was certainly no surprise. Central Europe 26% was certainly no surprise...in fact a larger percent there would not have been a surprise. MIDDLE EASTERN 9%.....Now that was a surprise! I'm still trying to wrap my head around that one.

    The whole genealogy by DNA is new for me so having the straight forward well explained approach was something I appreciate...but I believe that I will want more, that I will want access to the actual numbers. I wish I could know my haplogroup for example. I told a friend that I'm trying to take a crash course in this subject....but there is so much to learn....I feel as if I was just handed a book on aeronautical engineering written in Latin and told to follow the instructions and build a rocket. Yes, I am just about that lost.

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    1. Terrific insights, Quentin! Yes, this is a very difficult subject to learn, but is so fascinating that it really keeps your attention when you are learning! Just immerse yourself in it - work with your matches and read everything you can and you will get it! I appreciate your comments on wanting the actual genetic data - I can assure you that you will want and need it for your research. Please be sure and let them know that you feel it is important in your feedback to them. If you wouldn't mind, please send me an email and let me in on your "very large surprise". Now, you've got me curious!! :-)
      CeCe
      CeCe

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  14. Inspired by this show, I decided to take a Family Finder test. As an adult adoptee, I have some non identifying info on my birthparents, my mother's family was Jewish, my father's was not. I got back results which said I was 100 middle eastern Jewish. Is there any chance that there is an error in the testing? I know that there are all kinds of irregularities with inbred populations, and wonder if it's worth taking another test? It was the paternal line that was of interest to me, and I therefore waited for the combined test. I wouldn't be shocked if all of the information on my records was false, but should I have a question about the accuracy of my results?

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    1. Hi JLW,
      I'm assuming that you are female since you did not take a Y-DNA test as well. Is that correct?
      I really don't think there is a mistake. Family Tree DNA has a lot of expertise in Jewish DNA. How many matches do you have? Have you contacted your matches to see if they all have Jewish ancestry? Do you have any close matches?
      You may want to also test at 23andMe. I always recommend that adoptees be in both databases if possible - "fishing in both ponds" for a close relative. They also have a feature called Ancestry Finder that shows how many of the segments that you have matches on are of Jewish descent. That would be valuable to see. That feature is usually the first thing that I look at when I am helping an adoptee. You can write to me at my email address yourgeneticgenealogts@gmail.com if you wish.
      Thanks for commenting!
      CeCe

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    2. Sorry, my email address is incorrect above. It should read yourgeneticgenealogist@gmail.com.

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  15. With the beta announcement it appears I will have to purchase a redundant DNA test for Ancestry that I may have already taken at 23&Me. I am hoping both companies consider embracing the new, Portable Legal Consent process to help “create the world’s largest pool of openly available,user-contributed data about health and genomics.” Is there any reason that process cannot extend to ancestral mapping and relative finder for family tree accuracy? Article can be found via this link: http://www.nature.com/news/open-data-project-aims-to-ease-the-way-for-genomic-research-1.10507

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  16. Yes it seems like it is a waste of money to order a test you have already taken---but uploading your results is likely to cost close to $99 and I look at it as casting a broader net.

    I had signed up to be notified when the test became available. I got an email two days ago saying that current Ancestry.com customers who has signed up should keep an eye open for an invite which I received yesterday.

    I have no intention to order more than one test here at this time.

    As to Sorenson I read there privacy statement back when I first was dipping my toe into the DNA pool and I did not like it---that's why I went with FTDNA. I can't remember the language but it basically left them in control indefinitely of your results. They came from a research model whereby once you gave your consent most of your rights were gone.

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  17. Just FYI, you left a username in the text just above the contact button on the sixth image when sanitizing the images.

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