What If You Die?

coffinWell, it’s not exactly a what-if question, it’s a given.  You’re going to.  The only real question is when, and will you be prepared?

By prepared, I’m not talking about your will, I’m talking about your DNA.

The unspeakable happened this past weekend.  A long time researcher and close friend, Aleda, died, rather unexpectedly.  She has been chronically ill for some time, but not critically.  On Saturday, she read my blog, worked with her research group on the Autosomal DNA Segment Analyzer and ordered Emily’s book.  Then, in the afternoon, she said she didn’t feel well and got into her chair to take a nap.  Nothing unusual about that.  Aleda didn’t feel well a lot, but she persevered anyway, always helping and guiding her research group.  But this time was different.  Aleda was gone.

Her research group is wandering around like a group of lost souls.  It’s like someone shot a hole through the middle of all of us.  This isn’t a large well organized group with an official structure, but a small group of closely and not so closely related researchers trying to figure out their DNA and genealogy connections.

If you are a significant contributor, you will be sorely missed.  If you are reading this, and have had your DNA tested, you are one of the contributors.

The research group members are already asking, “What next?  How do we access the DNA records of the people Aleda had tested?”  Good question.  Let’s talk about preparing for the inevitable.

Aleda had given the kit passwords to a friend, who is now so upset she can’t find them.  As the project administrator of one of the projects that includes one of Aleda’s family member’s kits, I can see some of the information.

E-Mail

I can see that Aleda set up a special DNA e-mail address which I’m presuming she used for all of the kits.  Unfortunately, there is no alternate e-mail address.

When Family Tree DNA, and virtually all the companies, do a password reset, they send the password information to the e-mail address on file.

Does anyone, other than Aleda, have the password to that e-mail account?

Project administrators cannot change primary e-mail addresses.  Only the kit owner can do that.

If you change your password to your e-mail account, you’ll need to remember to provide the new password to your trusted other as well.

Passwords

If you share your password with someone, that’s fine, but if they can’t find it, or if you change it and don’t tell them, that won’t be helpful.  You might want to add their e-mail as an alternate.  You might want to provide this information to multiple people, just in case your chosen person predeceases you, or some other unfortunate situation exists, like a fire, system crash or losing the passwords.

At 23andMe, to download a raw data file, a password isn’t enough.  You also have to know the answer to the secret question.

Beneficiary Information

Family Tree DNA goes one step further and provides people with a beneficiary form for situations just like this.

Unfortunately, Aleda’s family member’s form is blank, and she protected his information by changing the setting to prevent project administrators from completing this form.

beneficiary form

Covering all the Bases

Don’t forget about 3rd party sites like GedMatch where you may also be registered.

What to do?

1. Family Tree DNA is the only company to provide the option of beneficiary information.  Take advantage of this and complete the form.  It’s only 3 lines – name, phone and e-mail of your beneficiary.  You can find it under the “My Account” tab on the blue/black bar at the top of your personal page.

beneficiary dropdown

2. Add an alternate e-mail address.

3. Provide password and e-mail password information to a trusted other, and maybe a few trusted others.

4. Remember to notify password holders when you change passwords to either e-mail or DNA kits.

5. If you are a project administrator, try your best to find a co-administrator and share information, such as genealogy provided by participants.

6. Provide a notification list for your family that includes important genealogy and DNA contacts, including Family Tree DNA if you are a project administrator.  Many times I’ve received an e-mail from someone’s account with their name as the subject.  I’ve learned to cringe when I see them, because I know what’s coming…but at least the family has taken the trouble to notify those of us who communicate electronically with that person instead of leaving us to wonder forever what happened.

7. Preparing for the inevitable doesn’t just apply to DNA testing, but to all aspects of online life.  Think about Facebook, for example.  My brother died 2 years ago, today, and no one has his password.  We post to his page from time to time, but like a ghost ship, his Facebook account will sail off into the indefinite captainless future.

2013’s Dynamic Dozen – Top Genetic Genealogy Happenings

dna 8 ball

Last year I wrote a column at the end of the year titled  “2012 Top 10 Genetic Genealogy Happenings.”  It’s amazing the changes in this industry in just one year.  It certainly makes me wonder what the landscape a year from now will look like.

I’ve done the same thing this year, except we have a dozen.  I couldn’t whittle it down to 10, partly because there has been so much more going on and so much change – or in the case of Ancestry, who is noteworthy because they had so little positive movement.

If I were to characterize this year of genetic genealogy, I would call it The Year of the SNP, because that applies to both Y DNA and autosomal.  Maybe I’d call it The Legal SNP, because it is also the year of law, court decisions, lawsuits and FDA intervention.  To say it has been interesting is like calling the Eiffel Tower an oversized coat hanger.

I’ll say one thing…it has kept those of us who work and play in this industry hopping busy!  I guarantee you, the words “I’m bored” have come out of the mouth of no one in this industry this past year.

I’ve put these events in what I consider to be relatively accurate order.  We could debate all day about whether the SNP Tsunami or the 23andMe mess is more important or relevant – and there would be lots of arguing points and counterpoints…see…I told you lawyers were involved….but in reality, we don’t know yet, and in the end….it doesn’t matter what order they are in on the list:)

Y Chromosome SNP Tsunami Begins

The SNP tsumani began as a ripple a few years ago with the introduction at Family Tree DNA of the Walk the Y program in 2007.  This was an intensively manual process of SNP discovery, but it was effective.

By the time that the Geno 2.0 chip was introduced in 2012, 12,000+ SNPs would be included on that chip, including many that were always presumed to be equivalent and not regularly tested.  However, the Nat Geo chip tested them and indeed, the Y tree became massively shuffled.  The resolution to this tree shuffling hasn’t yet come out in the wash.  Family Tree DNA can’t really update their Y tree until a publication comes out with the new tree defined.  That publication has been discussed and anticipated for some time now, but it has yet to materialize.  In the mean time, the volunteers who maintain the ISOGG tree are swamped, to say the least.

Another similar test is the Chromo2 introduced this year by Britain’s DNA which scans 15,000 SNPs, many of them S SNPs not on the tree nor academically published, adding to the difficulty of figuring out where they fit on the Y tree.  While there are some very happy campers with their Chromo2 results, there is also a great deal of sloppy science, reporting and interpretation of “facts” through this company.  Kind of like Jekyll and Hyde.  See the Sloppy Science section.

But Walk the Y, Chromo2 and Geno 2.0, are only the tip of the iceburg.  The new “full Y” sequencing tests brought into the marketspace quietly in early 2013 by Full Genomes and then with a bang by Family Tree DNA with the their Big Y in November promise to revolutionize what we know about the Y chromosome by discovering thousands of previously unknown SNPs.  This will in effect swamp the Y tree whose branches we thought were already pretty robust, with thousands and thousands of leaves.

In essence, the promise of the “fully” sequenced Y is that what we might term personal or family SNPs will make SNP testing as useful as STR testing and give us yet another genealogy tool with which to separate various lines of one genetic family and to ratchet down on the time that the most common recent ancestor lived.

http://dna-explained.com/2013/03/31/new-y-dna-haplogroup-naming-convention/

http://dna-explained.com/2013/11/10/family-tree-dna-announces-the-big-y/

http://dna-explained.com/2013/11/16/what-about-the-big-y/

http://www.yourgeneticgenealogist.com/2013/11/first-look-at-full-genomes-y-sequencing.html

http://cruwys.blogspot.com/2013/12/a-first-look-at-britainsdna-chromo-2-y.html

http://cruwys.blogspot.com/2013/11/yseqnet-new-company-offering-single-snp.html

http://cruwys.blogspot.com/2013/11/the-y-chromosome-sequence.html

http://cruwys.blogspot.com/2013/11/a-confusion-of-snps.html

http://cruwys.blogspot.com/2013/11/a-simplified-y-tree-and-common-standard.html

23andMe Comes Unraveled

The story of 23andMe began as the consummate American dotcom fairy tale, but sadly, has deteriorated into a saga with all of the components of a soap opera.  A wealthy wife starts what could be viewed as an upscale hobby business, followed by a messy divorce and a mystery run-in with the powerful overlording evil-step-mother FDA.  One of the founders of 23andMe is/was married to the founder of Google, so funding, at least initially wasn’t an issue, giving 23andMe the opportunity to make an unprecedented contribution in the genetic, health care and genetic genealogy world.

Another way of looking at this is that 23andMe is the epitome of the American Dream business, a startup, with altruism and good health, both thrown in for good measure, well intentioned, but poorly managed.  And as customers, be it for health or genealogy or both, we all bought into the altruistic “feel good” culture of helping find cures for dread diseases, like Parkinson’s, Alzheimer’s and cancer by contributing our DNA and responding to surveys.

The genetic genealogy community’s love affair with 23andMe began in 2009 when 23andMe started focusing on genealogy reporting for their tests, meaning cousin matches.  We, as a community, suddenly woke up and started ordering these tests in droves.  A few months later, Family Tree DNA also began offering this type of testing as well.  The defining difference being that 23andMe’s primary focus has always been on health and medical information with Family Tree DNA focused on genetic genealogy.  To 23andMe, the genetic genealogy community was an afterthought and genetic genealogy was just another marketing avenue to obtain more people for their health research data base.  For us, that wasn’t necessarily a bad thing.

For awhile, this love affair went along swimmingly, but then, in 2012, 23andMe obtained a patent for Parkinson’s Disease.  That act caused a lot of people to begin to question the corporate focus of 23andMe in the larger quagmire of the ethics of patenting genes as a whole.  Judy Russell, the Legal Genealogist, discussed this here.  It’s difficult to defend 23andMe’s Parkinson’s patent while flaying alive Myriad for their BRCA patent.  Was 23andMe really as altruistic as they would have us believe?

Personally, this event made me very nervous, but I withheld judgment.  But clearly, that was not the purpose for which I thought my DNA, and others, was being used.

But then came the Designer Baby patent in 2013.  This made me decidedly uncomfortable.  Yes, I know, some people said this really can’t be done, today, while others said that it’s being done anyway in some aspects…but the fact that this has been the corporate focus of 23andMe with their research, using our data, bothered me a great deal.  I have absolutely no issue with using this information to assure or select for healthy offspring – but I have a personal issue with technology to enable parents who would select a “beauty child,” one with blonde hair and blue eyes and who has the correct muscles to be a star athlete, or cheerleader, or whatever their vision of their as-yet-unconceived “perfect” child would be.  And clearly, based on 23andMe’s own patent submission, that is the focus of their patent.

Upon the issuance of the patent, 23andMe then said they have no intention of using it.  They did not say they won’t sell it.  This also makes absolutely no business sense, to focus valuable corporate resources on something you have no intention of using?  So either they weren’t being truthful, they lack effective management or they’ve changed their mind, but didn’t state such.

What came next, in late 2013 certainly points towards a lack of responsible management.

23andMe had been working with the FDA for approval the health and medical aspect of their product (which they were already providing to consumers prior to the November 22nd cease and desist order) for several years.  The FDA wants assurances that what 23andMe is telling consumers is accurate.  Based on the letter issued to 23andMe on November 22nd, and subsequent commentary, it appears that both entities were jointly working towards that common goal…until earlier this year when 23andMe mysteriously “somehow forgot” about the FDA, the information they owed them, their submissions, etc.  They also forgot their phone number and their e-mail addresses apparently as well, because the FDA said they had heard nothing from them in 6 months, which backdates to May of 2013.

It may be relevant that 23andMe added the executive position of President and filled it in June of 2013, and there was a lot of corporate housecleaning that went on at that time.  However, regardless of who got housecleaned, the responsibility for working with the FDA falls squarely on the shoulders of the founders, owners and executives of the company.  Period.  No excuses.  Something that critically important should be on the agenda of every executive management meeting.   Why?  In terms of corporate risk, this was obviously a very high risk item, perhaps the highest risk item, because the FDA can literally shut their doors and destroy them.  There is little they can do to control or affect the FDA situation, except to work with the FDA, meet deadlines and engender goodwill and a spirit of cooperation.  The risk of not doing that is exactly what happened.

It’s unknown at this time if 23andMe is really that corporately arrogant to think they could simply ignore the FDA, or blatantly corporately negligent or maybe simply corporately stupid, but they surely betrayed the trust and confidence of their customers by failing to meet their commitments with and to the FDA, or even communicate with them.  I mean, really, what were they thinking?

There has been an outpouring of sympathy for 23andme and negative backlash towards the FDA for their letter forcing 23andMe to stop selling their offending medical product, meaning the health portion of their testing.  However, in reality, the FDA was only meting out the consequences that 23andMe asked for.  My teenage kids knew this would happen.  If you do what you’re not supposed to….X, Y and Z will, or won’t, happen.  It’s called accountability.  Just ask my son about his prom….he remembers vividly.  Now why my kids, or 23andMe, would push an authority figure to that point, knowing full well the consequences, utterly mystifies me.  It did when my son was a teenager and it does with 23andMe as well.

Some people think that the FDA is trying to stand between consumers and their health information.  I don’t think so, at least not in this case.  Why I think that is because the FDA left the raw data files alone and they left the genetic genealogy aspect alone.  The FDA knows full well you can download your raw data and for $5 process it at a third party site, obtaining health related genetic information.  The difference is that Promethease is not interpreting any data for you, only providing information.

There is some good news in this and that is that from a genetic genealogy perspective, we seem to be safe, at least for now, from government interference with the testing that has been so productive for genetic genealogy.  The FDA had the perfect opportunity to squish us like a bug (thanks to the opening provided by 23andMe,) and they didn’t.

The really frustrating aspect of this is that 23andMe was a company who, with their deep pockets in Silicon Valley and other investors, could actually afford to wage a fight with the FDA, if need be.  The other companies who received the original 2010 FDA letter all went elsewhere and focused on something else.  But 23andMe didn’t, they decided to fight the fight, and we all supported their decision.  But they let us all down.  The fight they are fighting now is not the battle we anticipated, but one brought upon themselves by their own negligence.  This battle didn’t have to happen, and it may impair them financially to such a degree that if they need to fight the big fight, they won’t be able to.

Right now, 23andMe is selling their kits, but only as an ancestry product as they work through whatever process they are working through with the FDA.  Unfortunately, 23andMe is currently having some difficulties where the majority of matches are disappearing from some testers records.  In other cases, segments that previously matched are disappearing.  One would think, with their only revenue stream for now being the genetic genealogy marketspace that they would be wearing kid gloves and being extremely careful, but apparently not.  They might even consider making some of the changes and enhancements we’ve requested for so long that have fallen on deaf ears.

One thing is for sure, it will be extremely interesting to see where 23andMe is this time next year.  The soap opera continues.

I hope for the sake of all of the health consumers, both current and (potentially) future, that this dotcom fairy tale has a happy ending.

Also, see the Autosomal DNA Comes of Age section.

http://dna-explained.com/2013/10/05/23andme-patents-technology-for-designer-babies/

http://www.thegeneticgenealogist.com/2013/10/07/a-new-patent-for-23andme-creates-controversy/

http://dna-explained.com/2013/11/13/genomics-law-review-discusses-designing-children/

http://www.thegeneticgenealogist.com/2013/06/11/andy-page-fills-new-president-position-at-23andme/

http://dna-explained.com/2013/11/25/fda-orders-23andme-to-discontinue-testing/

http://dna-explained.com/2013/11/26/now-what-23andme-and-the-fda/

http://dna-explained.com/2013/12/06/23andme-suspends-health-related-genetic-tests/

http://www.legalgenealogist.com/blog/2013/11/26/fooling-with-fda/

Supreme Court Decision – Genes Can’t Be Patented – Followed by Lawsuits

In a landmark decision, the Supreme Court determined that genes cannot be patented.  Myriad Genetics held patents on two BRCA genes that predisposed people to cancer.  The cost for the tests through Myriad was about $3000.  Six hours after the Supreme Court decision, Gene By Gene announced that same test for $995.  Other firms followed suit, and all were subsequently sued by Myriad for patent infringement.  I was shocked by this, but as one of my lawyer friends clearly pointed out, you can sue anyone for anything.  Making it stick is yet another matter.  Many firms settle to avoid long and very expensive legal battles.  Clearly, this issue is not yet resolved, although one would think a Supreme Court decision would be pretty definitive.  It potentially won’t be settled for a long time.

http://dna-explained.com/2013/06/13/supreme-court-decision-genes-cant-be-patented/

http://www.legalgenealogist.com/blog/2013/06/14/our-dna-cant-be-patented/

http://dna-explained.com/2013/09/07/message-from-bennett-greenspan-free-my-genes/

http://www.thegeneticgenealogist.com/2013/06/13/new-press-release-from-dnatraits-regarding-the-supreme-courts-holding-in-myriad/

http://www.legalgenealogist.com/blog/2013/08/18/testing-firms-land-counterpunch/

http://www.legalgenealogist.com/blog/2013/07/11/myriad-sues-genetic-testing-firms/

Gene By Gene Steps Up, Ramps Up and Produces

As 23andMe comes unraveled and Ancestry languishes in its mediocrity, Gene by Gene, the parent company of Family Tree DNA has stepped up to the plate, committed to do “whatever it takes,” ramped up the staff both through hiring and acquisitions, and is producing results.  This is, indeed, a breath of fresh air for genetic genealogists, as well as a welcome relief.

http://dna-explained.com/2013/08/07/gene-by-gene-acquires-arpeggi/

http://dna-explained.com/2013/12/05/family-tree-dna-listens-and-acts/

http://dna-explained.com/2013/12/10/family-tree-dnas-family-finder-match-matrix-released/

http://www.haplogroup.org/ftdna-family-finder-matches-get-new-look/

http://www.haplogroup.org/ftdna-family-finder-new-look-2/

http://www.haplogroup.org/ftdna-family-finder-matches-new-look-3/

Autosomal DNA Comes of Age

Autosomal DNA testing and analysis has simply exploded this past year.  More and more people are testing, in part, because Ancestry.com has a captive audience in their subscription data base and more than a quarter million of those subscribers have purchased autosomal DNA tests.  That’s a good thing, in general, but there are some negative aspects relative to Ancestry, which are in the Ancestry section.

Another boon to autosomal testing was the 23andMe push to obtain a million records.  Of course, the operative word here is “was” but that may revive when the FDA issue is resolved.  One of the down sides to the 23andMe data base, aside from the fact that it’s not genealogist friendly, is that so many people, about 90%, don’t communicate.  They aren’t interested in genealogy.

A third factor is that Family Tree DNA has provided transfer ability for files from both 23andMe and Ancestry into their data base.

Fourth is the site, GedMatch, at www.gedmatch.com which provides additional matching and admixture tools and the ability to match below thresholds set by the testing companies.  This is sometimes critically important, especially when comparing to known cousins who just don’t happen to match at the higher thresholds, for example.  Unfortunately, not enough people know about GedMatch, or are willing to download their files.  Also unfortunate is that GedMatch has struggled for the past few months to keep up with the demand placed on their site and resources.

A great deal of time this year has been spent by those of us in the education aspect of genetic genealogy, in whatever our capacity, teaching about how to utilize autosomal results. It’s not necessarily straightforward.  For example, I wrote a 9 part series titled “The Autosomal Me” which detailed how to utilize chromosome mapping for finding minority ethnic admixture, which was, in my case, both Native and African American.

As the year ends, we have Family Tree DNA, 23andMe and Ancestry who offer the autosomal test which includes the relative-matching aspect.  Fortunately, we also have third party tools like www.GedMatch.com and www.DNAGedcom.com, without which we would be significantly hamstrung.  In the case of DNAGedcom, we would be unable to perform chromosome segment matching and triangulation with 23andMe data without Rob Warthen’s invaluable tool.

http://dna-explained.com/2013/06/21/triangulation-for-autosomal-dna/

http://dna-explained.com/2013/07/13/combining-tools-autosomal-plus-y-dna-mtdna-and-the-x-chromosome/

http://dna-explained.com/2013/07/26/family-tree-dna-levels-the-playing-field-sort-of/

http://dna-explained.com/2013/08/03/kitty-coopers-chromsome-mapping-tool-released/

http://dna-explained.com/2013/09/29/why-dont-i-match-my-cousin/

http://dna-explained.com/2013/10/03/family-tree-dna-updates-family-finder-and-adds-triangulation/

http://dna-explained.com/2013/10/21/why-are-my-predicted-cousin-relationships-wrong/

http://dna-explained.com/2013/12/05/family-tree-dna-listens-and-acts/

http://dna-explained.com/2013/12/09/chromosome-mapping-aka-ancestor-mapping/

http://dna-explained.com/2013/12/10/family-tree-dnas-family-finder-match-matrix-released/

http://dna-explained.com/2013/12/15/one-chromosome-two-sides-no-zipper-icw-and-the-matrix/

http://dna-explained.com/2013/06/02/the-autosomal-me-summary-and-pdf-file/

DNAGedcom – Indispensable Third Party Tool

While this tool, www.dnagedcom.com, falls into the Autosomal grouping, I have separated it out for individual mention because without this tool, the progress made this year in autosomal DNA ancestor and chromosomal mapping would have been impossible.  Family Tree DNA has always provided segment matching boundaries through their chromosome browser tool, but until recently, you could only download 5 matches at a time.  This is no longer the case, but for most of the year, Rob’s tool saved us massive amounts of time.

23andMe does not provide those chromosome boundaries, but utilizing Rob’s tool, you can obtain each of your matches in one download, and then you can obtain the list of who your matches match that is also on your match list by requesting each of those files separately.  Multiple steps?  Yes, but it’s the only way to obtain this information, and chromosome mapping without the segment data is impossible

A special hats off to Rob.  Please remember that Rob’s site is free, meaning it’s donation based.  So, please donate if you use the tool.

http://www.yourgeneticgenealogist.com/2013/01/brought-to-you-by-adoptiondna.html

I covered www.Gedmatch.com in the “Best of 2012” list, but they have struggled this year, beginning when Ancestry announced that raw data file downloads were available.  GedMatch consists of two individuals, volunteers, who are still struggling to keep up with the required processing and the tools.  They too are donation based, so don’t forget about them if you utilize their tools.

Ancestry – How Great Thou Aren’t

Ancestry is only on this list because of what they haven’t done.  When they initially introduced their autosomal product, they didn’t have any search capability, they didn’t have a chromosome browser and they didn’t have raw data file download capability, all of which their competitors had upon first release.  All they did have was a list of your matches, with their trees listed, with shakey leaves if you shared a common ancestor on your tree.  The implication, was, and is, of course, that if you have a DNA match and a shakey leaf, that IS your link, your genetic link, to each other.  Unfortunately, that is NOT the case, as CeCe Moore documented in her blog from Rootstech (starting just below the pictures) as an illustration of WHY we so desperately need a chromosome browser tool.

In a nutshell, Ancestry showed the wrong shakey leaf as the DNA connection – as proven by the fact that both of CeCe’s parents have tested at Ancestry and the shakey leaf person doesn’t match the requisite parent.  And there wasn’t just one, not two, but three instances of this.  What this means is, of course, that the DNA match and the shakey leaf match are entirely independent of each other.  In fact, you could have several common ancestors, but the DNA at any particular location comes only from one on either Mom or Dad’s side – any maybe not even the shakey leaf person.

So what Ancestry customers are receiving is a list of people they match and possible links, but most of them have no idea that this is the case, and blissfully believe they have found their genetic connection.  They have found a genealogical cousin, and it MIGHT be the genetic connection.  But then again, they could have found that cousin simply by searching for the same ancestor in Ancestry’s data base.  No DNA needed.

Ancestry has added a search feature, allowed raw data file downloads (thank you) and they have updated their ethnicity predictions.  The ethnicity predictions are certainly different, dramatically different, but equally as unrealistic.  See the Ethnicity Makeovers section for more on this.  The search function helps, but what we really need is the chromosome browser, which they have steadfastly avoided promising.  Instead, they have said that they will give us “something better,” but nothing has materialized.

I want to take this opportunity, to say, as loudly as possible, that TRUST ME IS NOT ACCEPTABLE in any way, shape or form when it comes to genetic matching.  I’m not sure what Ancestry has in mind by the way of “better,” but it if it’s anything like the mediocrity with which their existing DNA products have been rolled out, neither I nor any other serious genetic genealogist will be interested, satisfied or placated.

Regardless, it’s been nearly 2 years now.  Ancestry has the funds to do development.  They are not a small company.  This is obviously not a priority because they don’t need to develop this feature.  Why is this?  Because they can continue to sell tests and to give shakey leaves to customers, most of whom don’t understand the subtle “untruth” inherent in that leaf match – so are quite blissfully happy.

In years past, I worked in the computer industry when IBM was the Big Dog against whom everyone else competed.  I’m reminded of an old joke.  The IBM sales rep got married, and on his wedding night, he sat on the edge of the bed all night long regaling his bride in glorious detail with stories about just how good it was going to be….

You can sign a petition asking Ancestry to provide a chromosome browser here, and you can submit your request directly to Ancestry as well, although to date, this has not been effective.

The most frustrating aspect of this situation is that Ancestry, with their plethora of trees, savvy marketing and captive audience testers really was positioned to “do it right,” and hasn’t, at least not yet.  They seem to be more interested in selling kits and providing shakey leaves that are misleading in terms of what they mean than providing true tools.  One wonders if they are afraid that their customers will be “less happy” when they discover the truth and not developing a chromosome browser is a way to keep their customers blissfully in the dark.

http://dna-explained.com/2013/03/21/downloading-ancestrys-autosomal-dna-raw-data-file/

http://dna-explained.com/2013/03/24/ancestry-needs-another-push-chromosome-browser/

http://dna-explained.com/2013/10/17/ancestrys-updated-v2-ethnicity-summary/

http://www.thegeneticgenealogist.com/2013/06/21/new-search-features-at-ancestrydna-and-a-sneak-peek-at-new-ethnicity-estimates/

http://www.yourgeneticgenealogist.com/2013/03/ancestrydna-raw-data-and-rootstech.html

http://www.legalgenealogist.com/blog/2013/09/15/dna-disappointment/

http://www.legalgenealogist.com/blog/2013/09/13/ancestrydna-begins-rollout-of-update/

Ancient DNA

This has been a huge year for advances in sequencing ancient DNA, something once thought unachievable.  We have learned a great deal, and there are many more skeletal remains just begging to be sequenced.  One absolutely fascinating find is that all people not African (and some who are African through backmigration) carry Neanderthal and Denisovan DNA.  Just this week, evidence of yet another archaic hominid line has been found in Neanderthal DNA and on Christmas Day, yet another article stating that type 2 Diabetes found in Native Americans has roots in their Neanderthal ancestors. Wow!

Closer to home, by several thousand years is the suggestion that haplogroup R did not exist in Europe after the ice age, and only later, replaced most of the population which, for males, appears to have been primarily haplogroup G.  It will be very interesting as the data bases of fully sequenced skeletons are built and compared.  The history of our ancestors is held in those precious bones.

http://dna-explained.com/2013/01/10/decoding-and-rethinking-neanderthals/

http://dna-explained.com/2013/07/04/ancient-dna-analysis-from-canada/

http://dna-explained.com/2013/07/10/5500-year-old-grandmother-found-using-dna/

http://dna-explained.com/2013/10/25/ancestor-of-native-americans-in-asia-was-30-western-eurasian/

http://dna-explained.com/2013/11/12/2013-family-tree-dna-conference-day-2/

http://dna-explained.com/2013/11/22/native-american-gene-flow-europe-asia-and-the-americas/

http://dna-explained.com/2013/12/05/400000-year-old-dna-from-spain-sequenced/

http://www.thegeneticgenealogist.com/2013/10/16/identifying-otzi-the-icemans-relatives/

http://cruwys.blogspot.com/2013/12/recordings-of-royal-societys-ancient.html

http://cruwys.blogspot.com/2013/02/richard-iii-king-is-found.html

http://dna-explained.com/2013/12/22/sequencing-of-neanderthal-toe-bone-reveals-unknown-hominin-line/

http://dna-explained.com/2013/12/26/native-americans-neanderthal-and-denisova-admixture/

http://dienekes.blogspot.com/2013/12/ancient-dna-what-2013-has-brought.html

Sloppy Science and Sensationalist Reporting

Unfortunately, as DNA becomes more mainstream, it becomes a target for both sloppy science or intentional misinterpretation, and possibly both.  Unfortunately, without academic publication, we can’t see results or have the sense of security that comes from the peer review process, so we don’t know if the science and conclusions stand up to muster.

The race to the buck in some instances is the catalyst for this. In other cases, and not in the links below, some people intentionally skew interpretations and results in order to either fulfill their own belief agenda or to sell “products and services” that invariably report specific findings.

It’s equally as unfortunate that much of these misconstrued and sensationalized results are coming from a testing company that goes by the names of BritainsDNA, ScotlandsDNA, IrelandsDNA and YorkshiresDNA. It certainly does nothing for their credibility in the eyes of people who are familiar with the topics at hand, but it does garner a lot of press and probably sells a lot of kits to the unwary.

I hope they publish their findings so we can remove the “sloppy science” aspect of this.  Sensationalist reporting, while irritating, can be dealt with if the science is sound.  However, until the results are published in a peer-reviewed academic journal, we have no way of knowing.

Thankfully, Debbie Kennett has been keeping her thumb on this situation, occurring primarily in the British Isles.

http://dna-explained.com/2013/08/24/you-might-be-a-pict-if/

http://cruwys.blogspot.com/2013/12/the-british-genetic-muddle-by-alistair.html

http://cruwys.blogspot.com/2013/12/setting-record-straight-about-sara.html

http://cruwys.blogspot.com/2013/09/private-eye-on-britainsdna.html

http://cruwys.blogspot.com/2013/07/private-eye-on-prince-williams-indian.html

http://cruwys.blogspot.com/2013/06/britainsdna-times-and-prince-william.html

http://cruwys.blogspot.com/2013/03/sense-about-genealogical-dna-testing.html

http://cruwys.blogspot.com/2013/03/sense-about-genetic-ancestry-testing.html

Citizen Science is Coming of Age

Citizen science has been slowing coming of age over the past few years.  By this, I mean when citizen scientists work as part of a team on a significant discovery or paper.  Bill Hurst comes to mind with his work with Dr. Doron Behar on his paper, A Copernican Reassessment of the Human Mitochondrial DNA from its Root or what know as the RSRS model.  As the years have progressed, more and more discoveries have been made or assisted by citizen scientists, sometimes through our projects and other times through individual research.  JOGG, the Journal of Genetic Genealogy, which is currently on hiatus waiting for Dr. Turi King, the new editor, to become available, was a great avenue for peer reviewed publication.  Recently, research projects have been set up by citizen scientists, sometimes crowd-funded, for specific areas of research.  This is a very new aspect to scientific research, and one not before utilized.

The first paper below includes the Family Tree DNA Lab, Thomas and Astrid Krahn, then with Family Tree DNA and Bonnie Schrack, genetic genealogist and citizen scientist, along with Dr. Michael Hammer from the University of Arizona and others.

http://dna-explained.com/2013/03/26/family-tree-dna-research-center-facilitates-discovery-of-ancient-root-to-y-tree/

http://dna-explained.com/2013/04/10/diy-dna-analysis-genomeweb-and-citizen-scientist-2-0/

http://dna-explained.com/2013/06/27/big-news-probable-native-american-haplogroup-breakthrough/

http://dna-explained.com/2013/07/22/citizen-science-strikes-again-this-time-in-cameroon/

http://dna-explained.com/2013/11/30/native-american-haplogroups-q-c-and-the-big-y-test/

http://www.yourgeneticgenealogist.com/2013/03/citizen-science-helps-to-rewrite-y.html

Ethnicity Makeovers – Still Not Soup

Unfortunately, ethnicity percentages, as provided by the major testing companies still disappoint more than thrill, at least for those who have either tested at more than one lab or who pretty well know their ethnicity via an extensive pedigree chart.

Ancestry.com is by far the worse example, swinging like a pendulum from one extreme to the other.  But I have to hand it to them, their marketing is amazing.  When I signed in, about to discover that my results had literally almost reversed, I was greeted with the banner “a new you.”  Yea, a new me, based on Ancestry’s erroneous interpretation.  And by reversed, I’m serious.  I went from 80% British Isles to 6% and then from 0% Western Europe to 79%. So now, I have an old wrong one and a new wrong one – and indeed they are very different.  Of course, neither one is correct…..but those are just pesky details…

23andMe updated their ethnicity product this year as well, and fine tuned it yet another time.  My results at 23andMe are relatively accurate.  I saw very little change, but others saw more.  Some were pleased, some not.

The bottom line is that ethnicity tools are not well understood by consumers in terms of the timeframe that is being revealed, and it’s not consistent between vendors, nor are the results.  In some cases, they are flat out wrong, as with Ancestry, and can be proven.  This does not engender a great deal of confidence.  I only view these results as “interesting” or utilize them in very specific situations and then only using the individual admixture tools at www.Gedmatch.com on individual chromosome segments.

As Judy Russell says, “it’s not soup yet.”  That doesn’t mean it’s not interesting though, so long as you understand the difference between interesting and gospel.

http://dna-explained.com/2013/08/05/autosomal-dna-ancient-ancestors-ethnicity-and-the-dandelion/

http://dna-explained.com/2013/10/04/ethnicity-results-true-or-not/

http://www.legalgenealogist.com/blog/2013/09/15/dna-disappointment/

http://cruwys.blogspot.com/2013/09/my-updated-ethnicity-results-from.html?utm_source=feedburner&utm_medium=email&utm_campaign=Feed%3A+Cruwysnews+%28Cruwys+news%29

http://dna-explained.com/2013/10/17/ancestrys-updated-v2-ethnicity-summary/

http://dna-explained.com/2013/10/19/determining-ethnicity-percentages/

http://www.thegeneticgenealogist.com/2013/09/12/ancestrydna-launches-new-ethnicity-estimate/

http://cruwys.blogspot.com/2013/12/a-first-look-at-chromo-2-all-my.html

Genetic Genealogy Education Goes Mainstream

With the explosion of genetic genealogy testing, as one might expect, the demand for education, and in particular, basic education has exploded as well.

I’ve written a 101 series, Kelly Wheaton wrote a series of lessons and CeCe Moore did as well.  Recently Family Tree DNA has also sponsored a series of free Webinars.  I know that at least one book is in process and very near publication, hopefully right after the first of the year.  We saw several conferences this year that provided a focus on Genetic Genealogy and I know several are planned for 2014.  Genetic genealogy is going mainstream!!!  Let’s hope that 2014 is equally as successful and that all these folks asking for training and education become avid genetic genealogists.

http://dna-explained.com/2013/08/10/ngs-series-on-dna-basics-all-4-parts/

https://sites.google.com/site/wheatonsurname/home

http://www.yourgeneticgenealogist.com/2012/08/getting-started-in-dna-testing-for.html

http://dna-explained.com/2013/12/17/free-webinars-from-family-tree-dna/

http://www.thegeneticgenealogist.com/2013/06/09/the-first-dna-day-at-the-southern-california-genealogy-society-jamboree/

http://www.yourgeneticgenealogist.com/2013/06/the-first-ever-independent-genetic.html

http://cruwys.blogspot.com/2013/10/genetic-genealogy-comes-to-ireland.html

http://cruwys.blogspot.com/2013/03/wdytya-live-day-3-part-2-new-ancient.html

http://cruwys.blogspot.com/2013/03/who-do-you-think-you-are-live-day-3.html

http://cruwys.blogspot.com/2013/03/who-do-you-think-you-are-live-2013-days.html

http://genealem-geneticgenealogy.blogspot.com/2013/03/the-surnames-handbook-guide-to-family.html

http://www.isogg.org/wiki/Beginners%27_guides_to_genetic_genealogy

A Thank You in Closing

I want to close by taking a minute to thank the thousands of volunteers who make such a difference.  All of the project administrators at Family Tree DNA are volunteers, and according to their website, there are 7829 projects, all of which have at least one administrator, and many have multiple administrators.  In addition, everyone who answers questions on a list or board or on Facebook is a volunteer.  Many donate their time to coordinate events, groups, or moderate online facilities.  Many speak at events or for groups.  Many more write articles for publications from blogs to family newsletters.  Additionally, there are countless websites today that include DNA results…all created and run by volunteers, not the least of which is the ISOGG site with the invaluable ISOGG wiki.  Without our volunteer army, there would be no genetic genealogy community.  Thank you, one and all.

2013 has been a banner year, and 2014 holds a great deal of promise, even without any surprises.  And if there is one thing this industry is well known for….it’s surprises.  I can’t wait to see what 2014 has in store for us!!!  All I can say is hold on tight….

2013 Family Tree DNA Conference Day 1

This article is probably less polished than my normal articles.  I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write.  So you’re getting a spruced up version of my notes.  There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do.  Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry.  Max thought about this and said, really, not.  Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years.  The list included about 20 or so early adopters.  They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

Plaque Max and Me 2013

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators.  A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved.  When Max noted the admins who were leaders and are no longer with us, he could barely speak.  There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett remarks

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming.  Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time.  Her list of degrees would take a page or so.  She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card.  Then two months ago, Amy wound up sitting next to Max on another airplane.  It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers.  You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy?  How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here.  There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013.  I blogged about this at the time.

She spoke a bit about the history of this issue.

Mcguire

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA?  This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together.  Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor.  Is this a good thing or a bad thing?  Some feel that it’s unethical and an invasion of the privacy of the father.  But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved.  DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely.  Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907.  These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation.  “Three generations of imbeciles is enough.”  I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names.  The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived.  Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options.  53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release.  She notes that these were highly motivated people enrolled in a clinical study.  Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant.  Most people said they would participate if they were simply asked.  So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this.  I know several people who refused to participate in a research study because their results would not be returned to them personally.  All they wanted was information and to be treated respectfully.

What  the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well.  What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status.  It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA.  He has two children.  How does this affect his children?  Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information.  Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”.  Henrietta Lacks was a poor African-American woman with ovarian cancer.  At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research.  She was never informed or released anything, but then they were following the protocols of the time.  From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished.  The genome was eventually fully sequenced and published.  Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family?  And how does or should this affect policy?

How does this affect genetic genealogy?  Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics?  Should you have to talk to family members before anyone DNA tests?  Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy?  How about when the original tester dies?  Who has what rights and interests?  What about the unborn?  What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components.  Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over.  However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test.  Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved.  However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

Villars

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well.  This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents.  Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project.  More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years.  More than 360 ancient samples were collected across several different time periods.  There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially.  That’s for sure.  “We are reshaping the tree in an enormous way.”  What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year.  The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree.  Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.”  This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging.  I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA.  Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population.  This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America.  Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years.  Papers are coming within the next year about this.

They anticipate that interest will double within the next year.  They expect that based on recent discoveries, the 2015 Y tree will be much larger yet.  Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.”  The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science.  Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement.  He contacted his birth mother as an adult.  She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not.  Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’  With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4th grandparent by process of elimination.  While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA.    Here, Matt is discussing his children’s inheritance.

Matt dexter

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why.  Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous.  The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds.  Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue.  Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives.  This means that FTDNA’s Jewish “correction” seems to be working quite well.  Of course, they do have a great family group with which to calibrate their product.  Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish.  The non-Jewish group had almost exactly the opposite results.

  • Jewish people have from 1500-2100 matches.
  • Interfaith 700-1100 (Jewish and non)
  • NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project.  Jewish people match both Jewish and Interfaith families.  NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting.  This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried.  One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions.  Furthermore, the Jewish community has been endogamous longer than some of the other groups.  Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable.  I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central.  In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

 Estes Indian Princess photo

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held.  There were several topics.  Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended.  We had a wide range of expertise in the group and answered many questions.  One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well.  In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups.  This means they are listed on the “tree.”  So sometimes public and private can simply be a matter of timing and discovery.

FTDNA roundtable 2013

Here’s Bennett leading another roundtable discussion.

roundtable bennett

Session 7 – Dr. David Mittleman

Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur.  He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition.  He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology.  Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y.  It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well.  Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers.  This is not a test that a new customer would ever order.  The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

tech row

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit.  We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time.  We all bring food or drink and sometimes pitch in to rent the room.  We also spill out into the hallways where our impromptu “meetings” generally happen.  And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see.  Do we know how to party or what???

Here’s Linda Magellan working hard during the reception.  I think she’s ordering the Big Y actually.  We had several orders placed by admins during the conference.

Magellan

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

23andMe Patents Technology for Designer Babies

I try very hard to stay away from politics, religion and ethical discussions.  My Hoosier farmer Dad used to say opinions about those topics are like a certain body part, everyone has one and they all stink.

Today, however, I’m going to violate my own rule because willingly or not, by own DNA has been drug into this arena – without my direct knowledge – and so has yours if you have tested with 23andMe.

23andMe has patented the technology for making designer babies, but has stated that they don’t intend to use it.  If you’re scratching your head about now, so was I.  scratching head

This Fox News article explains about 23andMe’s patent application and recent approval.

They also report that 23andMe claims they have no plan to implement this system, confirmed by a quote from 23andMe.  If you’re thinking that makes no sense at all, you’re not alone.  Kind of reminds me of an alcoholic purchasing alcohol but claiming they have no intention of drinking it, a pedophile purchasing kiddie porn and claiming they have no intention of viewing it, a burglar caught with burglary tools and claiming they aren’t going to use them or maybe in a less sinister vein, a cat chasing a mouse and claiming they have no intention of catching it.  Yeah, right.

An article in Genetics in Medicine elaborates further.  This article explains how the designer baby process takes place.

“Taken out of “patentese,” what 23andMe is claiming is a method by which prospective donors of ova and/or sperm may be selected so as to increase the likelihood of producing a human baby with characteristics desired by the prospective parents, the selection being based on a computerized comparison of the genotypic data of the egg provider with that of the sperm provider.”

Clearly, very few people would have an issue with this technology if it were utilized to only deselect mixtures which would produce children with serious genetic diseases for at-risk couples.  However, utilizing this technique to produce designer children based on the whim of their parents could be another matter altogether, and to many people, crosses the murky line of what is and is not appropriate or acceptable, for whatever reason.  It’s not my intention here to debate the ethics of this technology or technique.  I can’t help but think, however, of the Chinese today who have a “one child policy,” only allowing one child per family which has led to sex selection in an attempt for families to assure that one child is a male.  Worse yet, I’m reminded of Hitler’s horrific genocide, the Holocaust, based on, in part, physical traits.

What does 23andMe themselves have to say about this?  On their May 28th 2012 blog, they announced their Parkinson’s patent.  In that announcement they stated that they “have a research arm with more than 20 scientists dedicated to making meaningful discoveries that will improve the lives of all of us.”

On October 1, 2013, their blog announced their second patent, the “designer baby” patent and states the following:

“Last week, 23andMe was awarded a patent for which we applied more than five years ago, and which relates to one of the tools we offer individuals as part of their genetic exploration. The tool — Family Traits Inheritance Calculator — offers an engaging way for you and your partner to see what kind of traits your child might inherit from you. The Family Trait Inheritance Calculator has also been part of our service since 2009 and is used by our customers as a fun way to look at such things as what eye color their child might have or if their child will be able to perceive bitter taste or be lactose intolerant. The tool offers people an enjoyable way to dip their toes into genetics.”

Here’s a look at 23andMe’s Family Inheritance Calculator.  The categories reported are bitter taste perception, lactose intolerance, earwax, eye color, muscle performance and alcohol flush reaction.  Certainly, this looks innocuous enough.

Utilizing a screen shot from two family members, the first column displays the child’s genes, the second, one parent’s, and the final column predicts the resulting outcome of that trait in the child.  In this case, the child has brown eyes, wet earwax, doesn’t run and has no alcohol flush reaction.

23andMefamilytraits

So if you’ve been dangling your toes in the water and thought you were just having fun, well, there might be something much more sinister under the water, depending on your perspective and your toes, well, they might just be bait.

The final paragraph in the Genetics in Medicine article sums this situation up quite well.

“What makes this case even more surprising is the fact that 23andMe is no stranger to controversy regarding its patenting activities. In the days following its May 2012 announcement on the company blog that it was to be granted a US patent for a test for propensity to develop Parkinson disease, the blog was filled with reactions of upset customers, the providers of the genetic and phenotypic data which constitutes 23andMe’s biobank. Since 23andMe is a commercial entity, clearly intended to bring profit to its investors at some stage at least, its attempts to seek patents are not surprising. Moreover, such attempts are not inherently problematic. However, for a company that invites audience participation, and so needs customers and their goodwill to maintain and expand its most valuable asset, i.e., its biobank, it is surprising that, following the uproar that greeted the announcement of its Parkinson disease patent, 23andMe has pursued this patent with no apparent public discussion. For instance, do the consumers who have also allowed 23andMe to use their genotypic data for the research conducted by the company agree with the use of their information for the purpose of developing a method for gamete donor selection? Public trust is central to the continuing success of human genetics research in general and biobank-based research in particular. We urge maximal transparency by all engaged in human genetics research.”

Customers are the Biobank

Herein lies the problem.  I’m one of those consumers and I had no idea whatsoever that this research was underway.  That makes it clandestine at worst and certainly not transparent at best.  My DNA, along with all of their other clients who constitute their “biobank” was used for this research which has now been patented in the form of “designer baby” technology.  I’m not going to say publicly whether I’m in favor of or opposed to designer babies, per se, but I’m going to say that I’m extremely uncomfortable discovering that this is what was being done with my DNA.  I’m not happy – really not happy.

When I purchased my DNA test at 23andMe, it was for genealogy, although I have clearly benefitted from the health traits aspects too.  I have been a willing participant in several surveys, including the ones about Parkinsons.  My mother had Parkinsons, at least we think she did, as Parkinsons is a diagnosis by excluding other possible diseases.  In other words, there is no test for Parkinson’s disease itself.  My thoughts of course when I’ve taken these surveys about diseases, traits and such is that the research would be utilized in identifying genetic sources and then perhaps treatments or drugs to cure those diseases.  I fully expected the treatments to be patented, but I did not expect the genetic aspects, or the genes themselves, to be patented.

In all fairness, I did give consent and I knew that their primary focus is and was medical research.  However, I didn’t expect they would utilize my DNA for this.  I trusted and had confidence in them.  Now I don’t.

Consenting for What?

Here’s a link to their consent form.  The first paragraph says “23andMe aims to make and support scientific discoveries and publish those discoveries in scientific journals.”  Hey, I’m good with that.  In fact, I applaud it.  A patent is not a scientific journal article.

Looking further, under item 5, under Benefits, it says, “23andMe may develop intellectual property, including but not limited to patents, copyrights and trademarks, and/or commercialize products or services, directly or indirectly, based on the results of this study, and in such cases you will not receive any compensation.”  I don’t quite understand how that is a benefit to me, at least not directly.  But it does say the word, patent.  It’s just that, well, I expected the patents to be related to disease cures, like cancer and Parkinsons and things like that, not designer babies.  Designer babies clearly have been a priority for them, and they have been working very quietly, too quietly, on this for a long time.  The patent was applied for in 2008.  Discussion about their Parkinsons research is all over their website, but not a peep about their designer baby research.  Why is that?

Recently, the Supreme Court struck down a similar patent on the Breast Cancer Genes.  This patent is different in that it doesn’t directly patent the genes themselves, but the gamete selection technique, as best I can tell.

Customer Options

What can I, as a consumer, do?  I’m very uncomfortable now with 23andMe and their priorities.  I feel that we as consumers, their customers, have been betrayed.  I feel that they have compromised their own integrity by focusing on designer babies for the wealthy who want to select eye color instead of on disease cures for the masses, which is what I expected would be done with my DNA.  I’m wondering what other things they are working on that I will find equally as objectionable.

This isn’t a debate about the ethics of designer babies, but a discussion about how my, and your, DNA is being utilized.

What can I do?  I still want the genealogy matching services, but I no longer want to participate in their medical research.  According to the consent form, customers do have an option to withdraw.  Here is what that says:

“Your alternative is not to participate in the 23andWe research study…If you choose not to give consent for 23andWe research, your Genetic & Self-Reported Information may still be used for other purposes, as described in our Privacy Statement.

At any time, you may choose to withdraw all or some of your Genetic & Self-Reported Information from 23andWe research by changing your consent status within the 23andMe “Settings” page or by sending a request to the Human Protections Administrator at hpa@23andme.com.  You will still be allowed full access to the Personal Genome Service®, but 23andMe will prevent the requested information from being used in new 23andWe research occurring after 30 days from receipt of your request. Any research on your data that has been performed or published prior to this date will not be reversed, undone, or withdrawn. Your Genetic & Self-Reported Information may still be used for other purposes as described in the 23andMe Privacy Statement.

Choosing not to give consent or withdrawing from 23andWe will not affect your access to your Genetic Information or to the Personal Genome Service®.

You may also discontinue participation by closing your Personal Genome Service® account, as described in the Terms of Service. Requests for account closure must be made in writing to 23andMe’s business address or via Customer Care.”

Hmm, it says that even if I withdraw, they can still use some information.   I did as they suggested, and consulted the Privacy Statement.  I’m not a lawyer, but this paragraph seems to suggest that regardless, they can use at least some of my information anyway.

They state: If you do not give your consent to participate in 23andWe Research, 23andMe may still use your Genetic and Self-Reported Information for purposes such as quality control or other R&D activities. Genetic and Self-Reported Information used for such purposes may be included in Aggregated Genetic and Self-Reported Information disclosed to third-party research partners who will not publish the information in a peer-reviewed scientific journal. Research partners may include commercial or non-profit organizations that conduct or support scientific/medical research or conduct or support the development of drugs or devices to diagnose, predict, or treat health conditions.”

So, the net-net of this seems to be that my only recourse if I really don’t want my DNA utilized is to close my account entirely – and even then, I’m not at all sure that they don’t retain my information and utilize it.  Maybe Judy Russell or Blaine Bettinger could provide a better legal review.

What I’m Doing

Let me tell you what I am going to do.

1.  I’m going to change my settings to prevent my DNA from being utilized in further research, and I’m not going to answer any more surveys until I feel much better about what 23andMe is doing, if ever.  In fact, I was going to show you how to do this too, if you’re interested.  However, after logging into 23andMe, the “settings” page is not in evidence since their last page reorganization, nor can it be found by searching, and neither is the “gear” that used to be the gateway to settings, so I will be e-mailing their Human Projects Administrator at hpa@23andMe.com.  This settings page required to withdraw should be obvious.

Edit – Update – The Settings Option is a dropdown from your name after you sign into 23andMe.  Then click on Privacy/Consent.

23andme settings

2.  Furthermore, I will no longer be recommending that people test at 23andMe without a very strong caveat and a link to this posting.

3.  I’ve removed their link from my blog sidebar.  Poof – gone.

I’m not the only one taking action.  Spencer Wells, population geneticist and Scientist in Residence at the National Geographic Society has weighed in as well on Facebook.

“Interesting how this “coincided” with the government shutdown, and therefore possible FDA regulation…it’s eugenics, plain and simple.  If you believe that your genome belongs to you, and don’t want yourself patented, respond by liking this post.  Let’s build a campaign.  #iownmygenome

What Do You Think?

I invite your input?  What do you think?  How do you feel?  What are you going to do?

Supreme Court Decision – Genes Can’t Be Patented

In a victory for consumers, patients, researchers and women, the Supreme Court today returned a decision that human genes cannot be patented.

Their decision states that DNA ”is a product of nature and not patent eligible merely because it has been isolated.”

This case was a result of a suit against Myriad Genetics, a company that was granted patents for isolating two human genes, known as BRCA1 and BRCA2, both of which are well known breast cancer genes, recently brought to light by Angelina Jolie’s decision to have preventative mastectomys after both the gene and related breast cancer were found to be prevalent in her family.  Shortly after that decision and surgery, Jolie’s aunt died of breast cancer.

While companies cannot patent the genes themselves, they can develop treatments and hopefully, cures, and those can be patented.  Synthetic genes created are also eligible for patents.  Myriad wasn’t the only company to do this.  The government has issued patents to over 4000 genes to both companies and universities.

The patenting of genes made it impossible for other competing companies who could test for the gene technically to do so.  In other words, it artificially created a sole supplier situation where only one company could provide the test for that gene, and therefore could set the price wherever they wanted.  Jolie revealed that the cost of screening for those two genes alone was $3000, a cost prohibitive to many women.  However, the actual cost of the testing is significantly less.  I was wondering just how much less, then the answer arrived in my inbox.

I know that Gene by Gene, through its division, DNA Traits has the capability to offer this test and has been selling it internationally since 2012.  Bennett Greenspan, president of Gene by Gene has discussed this with me privately, and how terribly it pained him not to be able to do this testing to help people within the US.  Bennett shared some pretty profound thoughts about the unfair situation this created.

I was just getting ready to call Bennett, when less than 6 hours after the Supreme Court decision, I received an e-mail from Gene by Gene, which contained the answer – $995.  So the actual cost to the American consumer is only about one third to one quarter of what they were being charged as a result of the patent.

Today’s Supreme Court decision is truly a victory for patients, consumers, researchers, women and all US citizens.  Below is the content of the e-mail I received from Gene by Gene announcing the ability for DNATraits to sell the BRCA test in the US.

dnatraits brca

In effort to increase access to potentially lifesaving BRCA1 and BRCA2 tests, DNATraits can now offer tests for $995, a fraction of the cost of similar tests prior to the court decision

HOUSTON — Jun. 13, 2013 – Thanks to today’s U.S. Supreme Court decision opening the door to greater access to genetic medicine by American patients and their health care providers, testing for genes specifically linked to breast, ovarian and other cancers will now be more widely available and at a lower cost than ever before.

DNATraits, a division of Houston-based genomics and genetics testing company Gene By Gene, Ltd., announced today that it will offer testing for the BRCA1 and BRCA2 genes in the United States for $995.  Prior to today’s unanimous Supreme Court ruling, when exorbitant licensing fees kept DNATraits and others from offering BRCA gene tests in the United States, the cost for such tests was around $4,000.

“We’re pleased to make this important testing more widely available and accessible in the United States,” said Gene By Gene President Bennett Greenspan.  “Our highly automated CLIA-registered lab and efficient processes enable us to make genetic and genomic testing more affordable and accessible to more individuals, in the U.S. and worldwide.  And that’s our company’s mission, in a nutshell.”

The company’s announcement about the tests, which gained national attention when actress Angelina Jolie courageously revealed in May that being a BRCA1 carrier was among the factors in her decision to have a preventive double mastectomy, comes after today’s Supreme Court ruling in “Association For Molecular Pathology v. Myriad Genetics.”

“We commend the Supreme Court for opening the door to greater technological innovation and access to genetic tools that promise to save and improve the quality of human lives in the United States,” Greenspan added.  “It’s critical that as an industry we are able to continue to engage in healthy competition to drive down the costs of these tests – because as more individuals have access to and undergo them, the more information we’ll have about many serious diseases that eventually may lead to cures.”

DNATraits has processed testing for the BRCA1 and BRCA2 genes for individuals living outside the U.S. since 2012.  Those genes are processed using traditional Sanger DNA sequencing, which is considered the gold standard for DNA analysis, at the company’s Genomic Research Center in Houston, a CLIA-registered lab which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations globally.

In addition to the BRCA gene tests, DNATraits offers a pre-natal array that covers 111 population specific diseases, as well as other not population-specific diseases, like Duchene Muscular Dystrophy.

Customer Inquiries

Individuals interested in learning more about either the BRCA1 or BRCA2 tests should ask their doctors for more information.  They and their health care providers can also visit the company’s website, www.dnatraits.com, or call (713) 868-1438 for more information.

Family Tree DNA Conference 2012 – Nits and Grits

First things first!  I want to thank Max and Bennett for graciously hosting the 8th Annual Genetic Genealogy Conference in Houston, Texas!  This is actually the 9th year, but a pesky hurricane interfered one year.  Max and Bennett are very generous with their time and resources and heavily subsidize this conference for us.  We’re registering in the photo above.

Georgia Kinney Bopp said it best.  At some point during this amazing conference, someone tweeted an earlier quote from a conversation between Ann Turner and Georgia:

“it’s hard to realize you’re living history while it happens…”

This was ever so true this weekend.  Even my husband (who is not genetic genealogy crazy) realized this.  I’m not sure everyone at the conference did, or realized the magnitude of what they were hearing, as we did have a lot of newbies.  Newbies are a good thing.  It means our obsessive hobby and this industry have staying power and there will be people to pass the torch to someday.

I’ve already covered the Native American focus meeting in an earlier blog.

For those of you who want the nitty gritty play by play as it happened at the conference, go to www.twitter.com and search for hashtag #ftdna2012.  If you want some help with Twitter, I blogged about that too.  Twitter is far from perfect, but it is near-realtime as things are happening.

As always, Family Tree DNA hosts a reception on Friday evening.  This helps break the ice and allows people to put faces with names.  So many of us “know” each other by our e-mail name and online presence alone.

We had a special guest this year too, Nina, a little puppy who was rescued by Rebekah Canada just a few days before the conference.  Nina behaved amazingly well and many of us enjoyed her company. 

Bennett opened the conference this year, and in the Clint Eastwood political tradition, spoke to his companion, the chair named Max.  The real Max, it turns out, was losing his voice, but that didn’t prevent him from chatting with us and answering questions from time to time.

While Bennett was very low key with this announcement, it was monumental.  He indicated that the parent company of Family Tree DNA has reorganized a bit.  It has changed its name to Gene by Gene and now has 4 divisions.  You can check this out at www.genebygene.com.  This isn’t the monumental part.

The new division, DNADTC’s new products are the amazing parts.  Through this new division, they are the first commercial company to offer a full genome sequence test.  The price, only $5495.  For somewhat less, $695, they are offering the exome, which are your 20,000 genes.  Whoever though it would be a genetic genealogy company who would bring this to the public.  Keep in mind that the human genome was only fully sequenced in 2003 at a cost of 3 billion dollars.

The amazing part is that a full genome sequence cost about 3 million in 2007 and the price will continue to fall.  While consumers will be able to order this, if they want, it comes with no tools, as it is focused at the research community who would be expected to have their own analytical tools.  However, genetic genealogists being who and what they are, I don’t expect the research market will outweigh the consumer market for long, especially when the price threshold reaches about $1000.

Bennett also said that he expects that National Geographic will, in 2013 sometime, decide to allow upgrades from Family Tree DNA clients for the Geno 2.0 product.  This will allow those people who cannot obtain a new sample to participate as well.  However, an unopened vial will be required.  No promises as to when, and the decision is not his to make.

The first session was Spencer Wells via Skype from Italy.  Spencer has just presented at two conferences within the week, one in San Francisco and one in Florence, Italy.  Fortunately, he was able to work us into his schedule and he didn’t even sound tired.

Of course, his topic was the Geno 2.0 test which is, of course, run on the new GenoChip.  The first results are in the final stages of testing, so we should see them shortly.  Sometime between the 19th and the end of the month.

This product comes with all new migration maps.  He showed one briefly, and I noticed that one of the two Native Y-lines are now showing different routes than before.  One across Siberia, which hasn’t changed, and one up the pacific rim.  Hmmm, can’t wait for that paper.

The new maps all include heat maps which show frequency by color.  The map below is a haplogroup Q heat map, but it is NOT from the Geno project.  I’m only using it as an example.

Spencer indicated that the sales of the 2.0 product rival those of the 1.0 product and that they have sold substantially more than 10K and substantially less than 100K kits so far.  In total, they have sold more than 470,000 kits in over 130 countries.  And that’s just the public participation part, not the indigenous samples.  They have collected over 75,000 indigenous samples from more than 100 populations resulting in 36 publications to date with another half dozen submitted but not yet accepted.  Academic publication is a very long process.

Nat Geo has given 62 legacy grants to indigenous communities that have participated totaling more than 1.7 million dollars.  That money comes in part from the public participation kits, meaning Geno 1.0 and now 2.0.

Geno 2.0 continues to be a partnership between National Geographic and Family Tree DNAFamily Tree DNA is running all of their samples in the expanded Houston lab.  Also added to the team is Dr. Eran Elhaik at Johns Hopkins University who has developed a new tool, AIMSFINDER, that locates never before identified Ancestral Informative Markers to identify population specific markers.  This is extremely important because it allows us to read our DNA and determine if we carry the markers reflective of any specific population.  Well, we don’t do the reading, they do with their sophisticated software.  But we are the recipients with the new deep ancestral ethnicity results which are more focused on anthropology than genealogy.  Spencer says that if you have 2% or more Native American, they can see it.  They have used results from both public and private repositories in developing these tools.

This type of processing power combined with a new protocol that tests all SNPS in a sequence, not just selected ones, promises to expand the tree exponentially and soon. It has already been expanded 7 fold from 863 branches of the Y tree to 6153 and more have already been discovered that are not on the GenoChip, but will be in the next version.

The National Geographic project will also be reaching out to administrators and groups who may have access to populations of interest.  For example, an ex-pat group in an American city.  Keep this in mind as you think of projects.

Another piece of this pie is a new educational initiative in schools called Threads.

This isn’t all, by any means, on this topic, I really do encourage you to go and use Twitter hashtag #ftdna2012.  Several of us were tweeting and the info was coming so fast and furious that no one could possibly get it all.

The future with Nat Geo looks exceedingly bright.  We have gone from the Barney Rubble age to the modern era and now there is promise for a rosy and as yet undiscovered future.

Judy Russell was next.  I have to tell you, when I saw where they positioned her, I was NOT envious.  I mean, who wants to follow Spencer Wells, even if he’s not there in person.  Well, if anyone was up to this, it certainly was Judy.  For those who don’t know, she blogs as The Legal Genealogist.

Judy is one of us.  That means she actually understands our industry, what drives genealogists and why.  In addition to being a lawyer, she is a certified genealogist and a genetic genealogy crazy too.  Maybe I shouldn’t call a lawyer crazy….well…it was meant as a compliment:)

Judy has the perspective to help us, not just criticize us remotely.  She reviewed several areas where we might make mistakes.  After all, we’re all volunteers coming from quite varied backgrounds.  She suggests that we all put some form of disclosure on our projects explaining what participants can expect in terms of use.  She used the Core Melungeon project as a good example, along with the Fox project.

“The goal of this project is to use DNA to better understand the origins of the Melungeon people, and this will be done by comparing the DNA with other project members, those outside of projects, and will incorporate relevant genealogical and historical research. All participants will be included in the ongoing studies and by joining the project, you are giving consent for your information to be anonymously included in ongoing genetic genealogy research. Your personal identity will not be revealed, but your results will be used to better understand the Melungeons as a people and their ancestors.”

From the Fox project:

“The exact function of these STR markers is not yet known and they have no known medical function but recent research shows they have some sort of regulatory function on the genes. While there is no medical information in these numbers, the absence of a certain few markers near a fertility gene could indicate sterility – something that would certainly already be known.

The results do provide a partial means of personal identification and, for this reason, our haplotype tables list only the FTDNA kit number and the most distant known male line ancestor. Within the project, however, the administrators feel free to disclose identities, particularly when a close match occurs.”

Judy’s stressed that we not tell people that there is no medical information revealed.  Partially, because we’ve discovered in rare cases that’s not true, and partially because we can’t see into the future.

Judy talked about regulation and that while we fear what it might intentionally or inadvertently do to genetic genealogy, it’s important to have regulations to get rid of the snake oil salesman, and yes, there are a couple in genetic genealogy.  They give us all a black eye and a bad name when people discover they’ve been hoodwinked. However, without regulation of some sort, we have no legal tools to deal with them.

Regulation certainly seems to be a double-edged sword.

I hope that Judy writes in her blog about what she covered in her session, because I think her message is important to all administrators and participants alike.  And just to be clear, the sky is not falling and Judy is not Chicken Little.  In fact, Judy is the most interesting attorney I have ever heard speak, and amazingly reasonable too.  She actually makes you WANT to listen, so if you ever get the chance to see one of her webcasts or attend one of her sessions, take the opportunity.

Following the break, breakout sessions began.  CeCe Moore ran one about “Family Finder,” Elise Friedman about “Group Administration” and Thomas Krahn provided the “Walk the Y Update.”  Bennett called this the propeller head session.  Harumph Bennett.  Guess you know which one I attended.  All sessions were offered a second time on Sunday.

Thomas said that they have once again upgraded their equipment, doubling their capacity again.  This gives 4 times the coverage of the original Walk the Y, covering more than 5 million bases.  To date, they have run 494 pre-qualified participants and of those, 198 did not find a new SNP.

There are changes coming in how the palindromic region is scored which will change the matches shown.  Palindromic mismatches will now be scored as one mutation event, not multiples.  Microalleles will able be reported in the next rollout version, expected probably in January.  The problem with microalleles is not the display, but the matching routine.

Of importance, there has not been an individual WTY tested from haplogroups B, M, D or S, and we need one.  So if you know of anyone, please contact Thomas.

Thomas has put his Powerpoint presentation online at  http://www.dna-fingerprint.com/static/FTDNA-Conference-2012-WalkThroughY.pdf

The next session by Dr. Tyrone Bowes was “Pinpointing a Geographical Location Using Reoccurring Surnames Matches.”  For those of us without a genetic homeland, this is powerful medicine.  Dr. Bowes has done us the huge favor of creating a website to tell us exactly how to do this.  http://www.irishorigenes.com/

He uses surnames, clan maps, matches, history and census records to reveal surname clusters.  One tidbit he mentioned is that if you don’t know the family ethnicity, look at the 1911 census records and their religion will often tell you.  Hmm, never thought of that, especially since our American ancestors left the homeland long ago.  But those remaining in the homeland are very unlikely to change, at least not in masse.  I’m glad he gave this presentation, or I would never have found his webpage and I can’t wait to apply these tools to some of my sticky-wickets.

This ended Saturday’s sessions, but at the end of every day, written questions are submitted for that day’s presenters or for Family Tree DNA.

Bennett indicated that another 3000 or 4000 SNPs will be added to the Family Finder calculations and a new version based on reference samples from multiple sources will be released in January.

Bennett also said that if and when Ancestry does provide the raw downloadable data to their clients, they will provide a tool to upload so that you can compare 23andMe and Ancestry both with your Family Finder matches.

Saturday evening is the ISOGG reception, also called the ISOGG party.  Everyone contributes for the room and food, and a jolly good time is had by all.  There is just nothing to compare with face to face communications.

For me, and for a newly found cousin, this was an amazing event.  A person named Z. B. Stroud left me a message that she was looking for me.  When I found her, along with her friend and cousin Revis, she tells me that she matches me autosomally, at 23andMe, and that she had sent me a sharing request that I had ignored.  I am very bad about that, because unless someone says they are related, I presume they aren’t and I don’t like to clutter up my list with non-related people.  It makes comparisons difficult.  My bad.  In fact, I’m going right now to approve that sharing request!!!

I will blog about this in the future, but without spilling too many beans….we had a wonderful impromptu family reunion.  We think our common ancestor is from the Halifax and Pittsylvania County region of Virginia, but of course, it will take some work to figure this out.

I’m also cousins with Revis Leonard (second from left).  We’ve known that for a long time, but Z.B. whose first name is Brisjon (second from right) is new to genealogy, DNA and cousin matching. I’m on the right above.  The Stroud project administrator, Susan Milligan, also related to Brisjon is on the left end.  In the center are Brisjon’s two cousins who came to pick her up for dinner and whom she was meeting for the first time.

But that’s not all all, cousin Brisjon also matches Catherine Borges.  Let me tell you, I know who got the tall genes in this family, and I’m not normally considered short.  Brisjon’s genealogical journey is incredibly amazing and she will be sharing it with us in an upcoming book.  Suffice it to say, things are not always what you think they are and Brisjon is living proof.  She also met her biological father for the first time this weekend!  I’m sure Houston and her 2012 visit where she met so many family members is a watershed event in her lifetime!  She is very much a lovely lady and I am so happy to have met her.  Cousins Rule!

ISOGG traditionally has its meeting on Sunday morning before the first session.  Lots of sleepy people because everyone has so much fun at the ISOGG party and stays up way too late.

Alice Fairhurst, who has done a remarkable job with the ISOGG Y SNP tree (Thank you Alice!) knows an avalanche is about to descend on her with the new Geno 2.0 chip.  They are also going to discontinue the haplogroup names, because they pretty much have to, but will maintain an indented tree so you can at least see where you are.  The names are becoming obsolete because everytime there is an insertion upstream, everything downstream gets renamed and it makes us crazy.  It was bad enough before, but going from 860+ branches to  6150+ in one fell swoop and knowing it’s probably just the beginning confirms the logic in abandoning the names.  However, we have to develop or implement some sort of map so you can find your relative location (no pun intended) and understand what it means.

Alice also mentioned that they need people to be responsible for specific haplogroups or subhaplogroups and they have lost people that have not been replaced, so if anyone is willing or knows of anyone….please contact Alice.

Alice also makes wonderful beaded double helix necklaces.

Brian Swann (sorry, no picture) is visiting from England this year and he spoke just a bit about British records.  He said it’s imperative to learn how they work and to use some of the British sites where they have been indexed.  He also reminded us to check GOONS (Guild of One Name Studies) for our surnames and that can help us localize family groups for recruiting.  He said that you may have to do family reconstructions because to get a Brit to test you have to offer them something.  That’s not terribly different from over here.  He also mentioned that today about half of the British people having children don’t marry, so in the next generation, family reconstruction will be much more difficult.  That too isn’t so terribly different than here, although I’m not sure about the percentages.  It’s certainly a trend, as are varying surname practices even within marriage.

Dr. Doron Behar began the official Sunday agenda with a presentation about the mtCommunity and a discussion of his recently published paper “A ‘Copernican’ Reassesement of the Human Mitochondrial DNA Tree from its Root.”  This paper has absolutely revolutionized the mitochondrial DNA community.  I blogged about this when the paper was first released and our home pages were updated.    One point he made is that it is important to remember is that your mutations don’t change.  The only thing that changes between the CRS (Cambridge Reference Sequence) and the RSRS (Reconstructed Sapiens Reference Sequence)  model is what your mutations are being compared to.  Instead of being compared to someone from Europe who live in 1981 (the CRS) we are now comparing to the root of the tree, Mitochondrial Eve (RSRS) as best we can reconstruct what her mitochondrial DNA looked like.

He also said that when people join the mtCommunity, their results are not automatically being added to GenBank at NCBI.  That is a separate authorization check box.

A survey was distributed to question participants as to whether they want results, when they select the GenBank option, to be submitted with their kit number.  Now, they are not, and they are under Bennett’s name, so any researcher with a question asks Bennett who has no “track back” to the person involved.  About 6000 of the 16,000 submissions today at GenBank are from Family Tree DNA customers.  Dr. Behar said that by this time next year, he would expect it to be over half.  Once again, genetic genealogy pioneers are leading the way!

At these conferences, there is always one session that would be considered the keynote.  Normally, it’s Spencer Wells when he is on the agenda, and indeed, his session was wonderful.  But at the 2012 conference, this next session absolutely stole the show.  Less public by far, and much less flashy, but at the core root of all humanity.

You can’t really tell from the title of this session what is coming.  Michael Hammer with Thomas Krahn and Bonnie Schrack, one of our own citizen scientists, presented something called “A Highly Divergent Y Chromosome Lineage.”  Yawn.  But the content was anything but yawn-material.  We literally watched scientific discovery unfold in front of our eyes.

Bonnie Schrack is the haplogroup A project administrator.  Haplogroup A is African and is at the root of the entire haplotree.  One of Bonnie’s participants, an African American man from South Carolina agreed to participate in WTY testing.  In a nutshell, when Thomas and Astrid began scoring his results, they continued and continued and continued, and wound up literally taking all night.  At dawn’s first light, Thomas told Astrid that he thought they had found an entirely new haplogroup that preceded any known today.  But he was too sleep deprived to be sure. Astrid, equally as sleep deprived, replied with “Huh?” in disbelief.  It’s certainly not a statement you expect to hear, even once in your lifetime.  This is a once in the history of mankind event.

Dr. Michael Hammer confirmed that indeed, they had discovered the new root of the human Y tree.  And not by a little either, but by a lot.  For those who want to take a look for yourself, Ysearch ID 6M5JA.  Hammer’s lab did the age projection on this sample, and it pushed the age of hominid men back by about 100,000 years, from 140,000 years ago to 237,000 years ago.  They then reevaluated the aging on all of the tree and have moved the prior date to about 200,000 years ago and the new one to about 338,000 years ago with a 98% confidence level.  This is before the oldest fossils that have been found, and also before the earliest mitochondrial DNA estimate, which previously had been twice as old as the Yline ancestor.

The previous root, A1b has been renamed A0 and the new root, just discovered is now A00.  Any other new roots discovered will simply get another zero appended.

How is it that we’ve never seen this before?  Well, it turns out that this line nearly went extinct.  Cruciani published a paper in 2012 that included some STR values that matched this sample, but fortunately, Michael Hammer’s lab held the actual samples.  A search of academic data bases reveals only a very few close matches, all in western Cameroon near the Gulf of Guinea.  Interestingly, next door, in Nigeria, fossils have been found younger than this with archaic features.  This is going to cause us to have to reevaluate the source of this lineage and with it the lineage of all mankind.  We must now ask the question about whether perhaps we really have stumbled upon a Neanderthal or other archaic lineage that of course “became” human.  Like many scientific discoveries, this answer only begs more questions.  My husband says this is like Russian tea dolls where ever smaller ones are nested in larger ones.

This discovery changes the textbooks, upsets the proverbial apple cart in a good way, and will keep scientists’ thinking caps on for years.  And to think, this was a result of one of our projects, an astute project administrator (Bonnie) and a single project member.  I wonder what the man who tested thinks of all of this. He is making science and all he thought he was doing was testing for genealogy.  You just never know where the next scientific breakthrough will come from.  Congrats to all involved, Bonnie, Thomas, Michael and to Bennett and Max for having this evolution revolution happen right in their lab!

If I felt sorry for Judy following Spencer, I really felt sorry for the breakout sessions following Thomas, Michael and Bonnie’s session.  Thankfully at least we had a break in-between, but most people were wandering around with some degree of stunned disbelief on their faces.  We all found it hard to fathom that we had been among the first to know of this momentous breakthrough.

I had a hard time deciding which session to attend, CeCe’s “Family Finder” session or Elise’s.  I decided to attend Elise’s “Advanced Admin Techniques” because I work with autosomal DNA with my clients and I tend to keep more current there.  Elise’s session was great for newer admins and held tips and hints for us old-timers too.  I realized I really need to just sit down and play with all of the options.

There are some great new features built in that I’ve never noticed.  For example, did you know that you can group people directly from the Y results chart without going to the subgrouping page?  It’s much easier too because it’s one step.  However, the bad news is that you still can’t invite someone who has already tested to join your project.  Hopefully that feature will be added soon.

The next session was “A Tale of Two Families” given by Rory Van Tuyl detailing how he used various techniques to discern whether individuals who did not show up as matches, meaning they were beyond the match threshold, were actually from the same ancient family or not.  Rory is a retired engineer and it shows in his attention to detail and affinity for math.

We always tell people that mutations can and do happen at any time, but Rory proved this.  He ran a monte-carlo simulation and showed that in one case, it was 50 generations between mutations, but in others, there was one mutation for three generations in a row.  Mutations by no means happen at a constant rate.  Of course, this means that our TIP calculator which has no choice but to use means and averages is by definition “not calibrated” for any particular family.

He also mentioned that his simulation shows that by about 150 generations, there are a couple of back mutations taking place.

The final session before the ending Q&A was Elliott speaking about IT, which really translates into new features and functions.  Let’s face it, today everything involves IT.

Again, I was having trouble typing fast enough, so you might want to check the Twitter feed.

They added the SNP maps (admins, please turn them on) and the interactive tour this year.  The tour isn’t used as much as it should be, so everyone, encourage your newbies to do this.

They have also added advanced matching, which I use a lot for clients, but many people didn’t realize it.  So maybe a quick tour through the website options might be in order for most of us.

They are handling 50 times more data now that a year ago.  Just think what next year will bring.  Wow.

They are going to update the landing page again with more color and more visible options for people to do things.  I hope they prompt people through things, like oldest ancestor mapping, for example.  Otherwise, if it isn’t easy, most don’t.

They are upgrading Population Finder and the Gedcom viewer.  They are adding a search feature.  Thank you!!  Older Gedcome will still be there but not searchable.

But the best news is that they are adding phasing (parent child) and an advanced capability to “reconstruct” an ancestor using more distant relatives, then the ability to search using that ancestral profile against Family Finder.  Glory be!  We are finally getting there.  Maybe my dreaming big wasn’t as far away as I thought.

They will also remove the 5 person autosomal download restriction and the “in common with” requirement to see additional information.  All good news.  They are also upgrading the Chromosome browser to add more filtering options.

They are also going to offer a developer “sandbox” area for applications.

The final Q&A session began with Bennett saying that their other priorities preclude upgrading Y search to 111 markers.

They are not planning to drop the entry level tests, 12 or 25 markers or the HVR1. If they do, lots of people will never take that plunge.  I was very glad to hear this.

And by way of trivia, Family Tree DNA has run more than 5 million individual tests.  Wow, not bad for a company that didn’t exist, in an industry that didn’t exist, 12 years ago!

It’s an incredible time to be alive and to be a genetic genealogist!  Thank you Family Tree DNA for making all of this possible.

Ancestry’s Consent Form for AncestryDNA Autosomal Test

When I ordered my Ancestry autosomal kit, called AncestryDNA, I said that I’d blog my way through the process so you can join me.  The kit arrived in about ten days, and then it laid on my desk for the next two weeks, looking at me accusingly every single day, silently nagging me.  Today, I capitulated, like I had  been meaning to do every single day for the past two weeks.

I opened the kit and followed the instructions to register the kit.  Easy enough.  Enter the bar code on the vial.  That bar code connected the kit with my account at Ancestry, and after I entered the code, I saw this next form as part of the activation process.

They ask for my birth year, which they indicate they use in relationship calculations.  That certainly seems kosher, so I entered mine.  And no, the year displayed above is not my birth year.  I’m pretending just for today:)

I clicked on gender and then I clicked in both the Consent Agreement and the Terms and Conditions boxes.  I was just about to click on the “Activate this test” button when that little voice started to speak to me.

Now long ago, I used to ignore that little voice, much to my own detriment.  When I was younger, it used to say things to me like “you should do what your mother said.”  I hated it.  When I was in college, it used to say things like “you really should go home and study statistics rather than have another beer.”  I REALLY hated it then.  I won’t even tell you what it said when I got engaged the first time.  You get the idea.

But that little voice said to me, “Hmmm, that’s odd.  Why two things to click?”  And having always suffered when I ignore the little voice, I’ve finally learned to pay attention, for the most part.

So I went and clicked on both the “Consent Agreement” and the “Terms and Conditions” links, and was I ever glad that I did.

The words “Consent Agreement” look so benign, especially after working with Family Tree DNA’s consent agreement which is about 2 sentences and very straightforward.  This one is anything but, AND, I was mortified to see what I was consenting to, other than what I expected, which was to process my kit for genealogy purposes. 

Let me say right here and now that you do NOT have to agree to the Consent Agreement to activate your kit, although it doesn’t say that on this page.  And given where this box is placed, it certainly gives the impression that you need to click both these boxes to activate the kit, but you don’t.  The word “optional” doesn’t appear.  There is also nothing to alert you, on this page, that what you are consenting to is research, not simply consenting for your test to be run.  Whoda thought???

I did not agree to the Consent Agreement.  I did agree to the Terms and Conditions, which are required, and my kit was activated.  I’m betting most people don’t even read this verbiage, and I’m betting Ancestry is counting on that fact.  In this techno-world, people have come to expect that you have to “click” to agree to whatever, so they click because they feel they have no other option if they want the product…in this case…to activate the kit which they have aleady purchased.  While this is the case for the Terms and Conditions, it’s not for the Consent Agreement, which should really be termed optional.

What You’re Giving Consent For

  1. Unnamed and unidentified research projects that Ancestry can identify so long as they fall under their “Human Genetic Diversity Project.”
  2. Ancestry will be using, and potentially SELLING your DNA results, including MEDICAL and genealogical information.
  3. In the Terms and Conditions, which is required to activate your kit, you are granting them a TRANSFERRABLE LICENSE to any information you put into ancestry, plus your DNA results.  See items 4 and 7 in the Terms and Conditions section, below.

Oh yes, and just for grins and giggles, here is what they have to say in section 10 about quality, just in case you were wondering:

“In addition, we do not make any representations as to the accuracy, comprehensiveness, completeness, quality, currency, error-free nature, compatibility, security or fitness for purpose of the AncestryDNA Website, Content or Service.”

The Issue

When I gave consent at 23andMe, I signed something very similar to this.  But 23andMe is a company that specializes in health traits and risks.  I EXPECT them to be doing research.  In fact, they are very up-front about the fact that they are doing this.  I WANT them to make advancements in science based on crowd-sourcing.

But Ancestry.com is not 23andMe.  Their primary purpose in life is not medical testing or health traits.  It’s genealogy and family history.  I ordered this test to discover more about my family history, to be matched against others who also took the test, not to make my DNA available outside of that realm.

I had to agree to the Terms and Conditions, so whether I want my DNA and genealogy records to be transferrable to whomever, wherever, whenever, or not, they will be.  That is apparently the price of admission to genealogy testing, at least autosomal testing, at Ancestry.com.

When I saw that Ancestry gave away thousands of kits initially, followed by selling several thousand more at $99, I wondered how it was that they could afford to do that when the same test, in essence, was being sold by Family Tree DNA for $289 and by 23andMe for $299.  Maybe the verbiage that includes medical information tied to genealogy information and the requirement to give up rights to your information in order to test is part of the reason that they can afford to sell this test for $99.  Hmmmm….

Maybe that little voice that was saying to me, “if it sounds too good to be true, it probably is,” is right.

Of course, the next step in the kit activation process are prompts to begin your genealogy tree or to upload your GEDCOM file.  If you’re going to take the autosomal test, Ancestry’s matching would be very ineffective without the tester providing genealogy information about themselves.  I did enter a few generations, as I wasn’t about to upload my entire GEDCOM file, but I also realize that I’ve forever released the information I entered, including the names of my parents and my birth year, into the great transferrable abyss.  The little voice is not happy with me.  I’m just not convinced that this is ultimately in my best interest.

Below, Ancestry’s Information and Consent Form as well as their Terms and Conditions are copied directly from their webpage.  All verbiage, links, highlighting, etc., from here down, is entirely theirs.

Information and Consent Form

We would like you to be part of a research project. This Consent Form gives you information to help you decide if you would like to participate in the research project to be performed by Ancestry.com DNA, LLC (“AncestryDNA,” “us” or “we”). We believe in being transparent so you can understand this consent form and what we are attempting to accomplish through the research project described below. If you have any questions, please contact us using the information below and feel free to discuss your participation with anyone you choose in order to better understand this research project and your options.

Anyone who is using the AncestryDNA service to find out about their genetic ancestry may also voluntarily participate in this research project. You do not have to be in this research project if you don’t want to.

If you are the parent or guardian of a minor who may wish to participate in this research project, you should talk with your child and go over the information in this form with him/her before you and your child make a decision about whether to participate. Your child does not have to participate if he/she does not want to.

Please read this Consent Form carefully; you should print out a copy and keep it somewhere safe. A copy of it is also always available on our website.

1. What is the research project?

The AncestryDNA’s Human Genetic Diversity Project (“The Project”) will collect, preserve and analyze genetic information, genealogical pedigrees, historical records, surveys, medical and health records and other information (collectively, “Information”) from people all around the world in order to better understand human evolution and migration, population genetics, ethnographic diversity and boundaries, genealogy, and the history of our species. Researchers hope that the Project will be an invaluable genealogic tool for future generations and will engage the interest of a wide range of scholars interested in genealogy, anthropology, evolution, languages, cultures, medicine, and other topics. The Information will not be used for medical purposes in the treatment or diagnosis of any individuals.

This Consent Form is consistent with National Institutes of Health Regulations and Ethical Guidelines and explains:

2. What information will be collected?

The Project will collect genetic, genealogical and health information that has been stripped of any personally identifiable information in order to study the history of our species. Genes are in your cells, and they are what make you different from anyone else. Some genes control things like the color of your hair or eyes. Genetic information includes your genotype that is discovered when AncestryDNA processes your saliva or is otherwise provided by you to AncestryDNA (the “Genetic Information”) when you choose to use the AncestryDNA service. Genealogical information is your pedigree, ethnicity, family history, and other information about you that is either provided by you or is gleaned from publicly available documents on Ancestry.com’s website and other locations (the “Genealogical Information”). Health information includes self-reported information from you such as medical conditions, diseases, other health-related information, personal traits, and other information that is either provided by you or is gleaned from publicly available sources, documents on Ancestry.com’s website and other resources (the “Health Information”).

In all cases for this Project, personally identifiable information about specific study participants (such as name and birth date) is removed from the Information before it is compiled as part of this Project.

The Project will take all of this information (that is already stripped of personally identifiable information) and compile it into a single data summary to minimize the possibility that any individual participant can be identified by any researcher or other individual from the Information.

3. How will the information be used?

Your Information will be combined with others and used to further the Project’s objectives of increasing our understanding of the components that define the history of our species. Discoveries made as a result of this research could be used in the study of genealogy, anthropology, evolution, languages, cultures, medicine, and other topics. In any publication of the studies or results, the genetic, genealogical and health information will be stripped of any personally identifiable information.

4. How do I take part in the Project?

To participate, you need to follow the instructions on our website to submit a Test Kit (i.e., a cheek swab sample).

Once you send your DNA samples to us, you must then register the Test Kit with AncestryDNA. During that process, you will be asked to click “accept” at the end of this Information and Consent Form which will allow AncestryDNA to use your samples and information for this Research Project. You will also be required to read and accept our Terms & Conditions and Privacy Policy.

Study staff may contact you to ask you to complete a questionnaire or to ask you if you are willing to be interviewed.

5. What are the costs and will I receive compensation?

The costs of participating in the Project and having your DNA analyzed are the same as having your DNA analyzed on Ancestry.com and not participating in the Project. You will not be charged for participating in the Project.

You will not get paid for being in this Project. The sample(s) you provide for this genetics Project might benefit AncestryDNA in the future. AncestryDNA will own the results of the research and any subsequent publication of the results. You will remain the owner of the samples you provide. Your samples will be stored until AncestryDNA destroys them.

6. What are the benefits of participating?

Participating in this Project may not benefit you directly. But your participation in this Project will assist scientists to better understand our species, including our shared anthropology and medical and genetic traits. Your individual DNA results will be communicated to you regardless of whether or not you consent to be in this Project, including information about genetic relatives, geographic origin, and ethnicity.

7. Are there any risks to participating?

Presently, there are no known health risks involved in obtaining a DNA sample. Your test results may reveal information about members of your biological family (blood relatives). But there are no physical risks for having your sample and information used in this Project. As in any research study, there is a risk that private personal or health information could be compromised and/or that other means could be used to identify you. But, as described herein, we will not disclose your personally identifiable information except as required by law. Please note that a federal law called the Genetic Information Nondiscrimination Act (GINA) generally makes it illegal for health insurance companies, group health plans, and most employers to discriminate against you based on your genetic information. Be aware that this new law does not protect you against genetic discrimination by companies that sell life insurance, disability insurance, or long-term care insurance. There may also be additional risks to participation that are currently unforeseeable. We do our best to ensure that this does not happen and you should read our Privacy Policy and FAQs for more information.

8. How will you protect my information?

AncestryDNA uses a range of physical, technical, and administrative procedures to protect the privacy of your Health Information, your Genetic Information, and your Genealogical Information. For example, we restrict access to our data center and databases by using industry standard passwords and pass cards, your connections to the AncestryDNA website are encrypted, and all Internet computer servers have firewall protection in place. Although AncestryDNA may collaborate with external third parties, these parties will only have access to pooled information stripped of personal identifying Information. AncestryDNA will never release your individual information without asking for and receiving your explicit authorization to do so, except as required by law, and your identity will not be disclosed by us in any publication of the research. Genetic Information will be segregated from other information and only specifically authorized individuals will have access to the Genetic Information. These measures are described in more detail in the AncestryDNA Privacy Policy.

Be aware that your study records (which include your genetic and other information as described above) will be shared and copied as needed for the Project.

9. Could my participation end without my consent?

AncestryDNA has the ability to terminate the Project in its discretion without your consent. AncestryDNA will protect your Information even after the study is terminated.

10. How do I withdraw from this Project?

Participation in this study is purely voluntary. You can decide not to be in this Project and, at any time, you may choose to withdraw some or all of the Information provided by sending a request to consent@ancestry.com. There will be no penalty to you, and you won’t lose any benefits. AncestryDNA will cease using your Information for the Project as soon as it reasonably can after receipt of your request. Any research using your Information that has been performed or published prior to this date will not be reversed, undone, or withdrawn.

If you choose not to participate in the Project, you will still receive your genetic information (i.e., genetic relationships/matching and ethnicity).

11. Further Information and FAQs.

You can ask questions about this research Project at any time. You can contact AncestryDNA at any time if you have any concerns or complaints or if you have questions about the Project. If you wish to contact us then you can do so as follows;

AncestryDNA Member Services
Memberservices@ancestrydna.com
360 W. 4800 N.
Provo, Utah 84604
801-705-7000 or fax to 801-705-7001

If you have questions about what it means to be in a research study, you can call Quorum Review (a research ethics board that reviews this study) at 888-776-9115 begin_of_the_skype_highlighting              888-776-9115      end_of_the_skype_highlighting, or visit the Quorum Review website at www.quorumreview.com.

Ancestry.com DNA, LLC

US Terms and Conditions – Revision as of May 3, 2012

Welcome to AncestryDNA. We offer DNA testing and genealogical analysis to help users discover, preserve, and share their family history. Below are our detailed terms and conditions which you must read and accept before using our services.

These Terms and Conditions apply to users visiting or registering on or after May 3, 2012. For existing Users (as defined below), these Terms and Conditions will be come effective on June 3, 2012. For the previous version of the Terms and Conditions, please click here.

Please note that hyperlinks embedded in these terms and conditions (this “Agreement”) may only be accessed through our website. If you are reviewing this Agreement through mobile devices, you may need to visit the website to use the hyperlinks.

1. Overview

Before using this website, ordering a DNA testing kit or having access to the results of the DNA testing, you must review and accept this Agreement which defines your rights and responsibilities as a user of the website and DNA testing service (“User”) operated by Ancestry.com DNA, LLC (“AncestryDNA” or “we”) and located at AncestryDNA.com or via the section of Ancestry.com’s website located at dna.ancestry.com (the “AncestryDNA Website”). The AncestryDNA Website is operated and services are provided in the United States of America. DNA testing and access to the AncestryDNA Website are governed by this Agreement, which, in turn, is governed by the laws of the State of Utah and the United States. Registering as a User and having DNA tested as a part of this service results in your personal and genetic information being stored and processed in the United States, and you specifically consent to AncestryDNA’s storage and processing the DNA and other personal data you submit. The AncestryDNA Website and services provided herein are intended for adults. If any minor gains access to the AncestryDNA Website, the parent or guardian of that minor will be held strictly responsible for that minor’s actions. If you submit a DNA sample of a minor, you must represent that you are the minor’s parent, legal guardian and/or have explicit permission from the minor’s parent or legal guardian. If you do not agree with any provision of this Agreement, or if you have any objections to the AncestryDNA Privacy Statement, you must not use the AncestryDNA Website or be a User.

2. Description of Service

AncestryDNA is part of the Ancestry family of websites, which includes, among others, ancestry.com, rootsweb.com, and familytreemaker.com, as well as international websites such as ancestry.co.uk, ancestry.de, ancestry.fr, ancestry.it, ancestry.se. AncestryDNA offers both a DNA test to help discover your ancestors and an online service where Users view the results of their DNA test (together the “Service”). The AncestryDNA Service can be used in conjunction with the Ancestry family of websites to enable Users to discover, research, and save family history by searching extensive databases of records on www.ancestry.com’s website (or through certain other websites in the Ancestry family of websites) and by utilizing Ancestry.com’s family tree services. AncestryDNA Users and users of the Ancestry family of websites may also communicate with each other in order to collaborate and exchange family history related information (the “Ancestry.com Community”).

3. Limited Use License

The AncestryDNA Website contains graphics, information, data, user generated information, editorial and other content accessible by users (the “Content”). All Content is owned, licensed to and/or copyrighted by AncestryDNA and may be used only in accordance with this limited use license. The AncestryDNA Website is protected by copyright as a collective work and/or compilation, pursuant to U.S. copyright laws, international conventions, and other copyright laws. You may use the Service, access the Ancestry Website, use the graphics, information, data, editorial and other Content only for personal or professional family history research. Republication or resale of any of the Content or other protected data is prohibited. You may use the software provided on the AncestryDNA Website only while online and may not download, copy, reuse or distribute that software, except where it is clearly stated that such software is made available for offline use. AncestryDNA and its licensors retain title, ownership and all other rights and interests in and to all information and Content on the AncestryDNA Website. Bots, crawlers, spiders, data miners, scraping and any other automatic access tool are expressly prohibited. Violation of this limited use license may result in immediate termination of your membership and may result in legal action against you.

Each of the Ancestry family of websites is subject to terms and conditions different from those found here and it is your responsibility to ensure that you have read and understood them before using those websites.

4. DNA Testing

All DNA testing performed by AncestryDNA on samples submitted for testing or by uploading a digital version of a DNA analysis is done for genealogical research only, including population and ethnic group-related analyses, and not for individual medical or diagnostic purposes. Before providing a DNA sample for testing, you represent that you are eighteen (18) years of age or older. In addition, you represent that any sample you provide is either your DNA or the DNA of a person for whom you are a legal guardian or have obtained legal authorization to provide their DNA to AncestryDNA. By submitting DNA samples to AncestryDNA, you give permission to AncestryDNA to extract the DNA from the samples, perform genetic tests on the DNA using test methods available now and developed in the future, to disclose the results of the tests performed to you and others that you authorize, to store the samples for additional genetic testing and archiving purposes, and to store the results of the DNA tests in accordance with this Agreement and with the AncestryDNA Privacy Statement. Any DNA sample submitted to us cannot be returned and shall be stored by AncestryDNA or its agents. AncestryDNA does not claim any ownership rights in the DNA that is submitted for testing. Any genetic information derived from the DNA continues to belong to the person who submitted the DNA sample, subject only to the rights granted to AncestryDNA in this Agreement. In addition, you understand that by providing any DNA to us, you acquire no rights in any research or commercial products that may be developed by AncestryDNA that may relate to or otherwise embody your DNA.

By submitting DNA to AncestryDNA, you grant AncestryDNA a transferable license to use your DNA, and any DNA you submit for any person from whom you obtained legal authorization as described in this Agreement, and to use, host, sublicense and distribute the resulting analysis to the extent and in the form or context we deem appropriate on or through any media or medium and with any technology or devices now known or hereafter developed or discovered. You hereby release AncestryDNA from any and all claims, liens, demands, actions or suits in connection with the DNA sample, the test or results thereof, including, without limitation, errors, omissions, claims for defamation, invasion of privacy, right of publicity, emotional distress or economic loss. See indemnification provision below.

If you are a User residing outside the United States and providing a DNA sample, you confirm that this submission is not subject to any export ban or restriction in the country in which you reside. You also agree that you have the authority, under the laws of the state or jurisdiction in which you reside, to provide the representations in this Agreement and you explicitly waive any laws or regulations relating to DNA testing and storage from the state or jurisdiction in which you reside. You agree that the sample will be tested and stored in the United States as provided in this Agreement. You further agree that you may only be accessible through the AncestryDNA Website and that you may not be able to use the results in a website targeted to your country of residence or hosted outside the United States.

5. Rules of Conduct

Before using the AncestryDNA Website, you agree to comply with all applicable laws and refrain from infringing any third-party rights or interests (for example, privacy and intellectual property rights). You must also agree that you will provide valid and complete contact information, and that you will always have a valid email address on file with AncestryDNA. In addition, the following policies are part of this Agreement and must be followed anytime you access the AncestryDNA Website:

A. You must not post or publish any information that you know is false or misleading, such as impersonating any person or entity, falsely misrepresenting your affiliation with any person or entity, falsely claiming an endorsement that you do not have, or misrepresenting that you are an employee or representative of AncestryDNA or otherwise affiliated with AncestryDNA.

B. You must not reproduce, copy or sell any portion of AncestryDNA or AncestryDNA database contents or systematically download the Content and data of the AncestryDNA database to make or populate another database or for any other purpose.

C. You must not interfere or attempt to interfere with the AncestryDNA Website in any manner. For example, you may not use any software program, virus or routine to block, obscure, overwrite or modify any Content or web pages or to destroy the software, hardware or telecommunications equipment of the AncestryDNA Website or another person.

D. You must not use the information from the AncestryDNA website or DNA tests in whole or in part for any discrimatory or otherwise illegal activity (for example, to make insurance or employment decisions).

These Rules of Conduct are not exclusive. If we believe, in our sole discretion, that you are in breach of this Agreement, are acting inconsistently with the letter or spirit of this Agreement or otherwise interfering with the efficient management or delivery of the AncestryDNA Website, Service or Content, we may limit, suspend or terminate your access to our AncestryDNA Website. In such a case, no portion of your subscription payment will be refunded. Should we decide to suspend or terminate your access for any reason other than your actions or omissions which we believe to be inconsistent with this Agreement we will refund to you any unused portion of your payment, which will be your sole and exclusive remedy upon such a suspension.

6. AncestryDNA Fees and Payments

Users of the AncestryDNA Website may be unregistered visitors or paying members. The different payment options and services offered will be published on the AncestryDNA Website or at the time a DNA test or other service is offered. The terms and conditions applying to such items or services will be incorporated into this Agreement.

You must be 18 years or older to order the AncestryDNA Service. You must provide AncestryDNA with accurate, complete, and up-to-date registration information. Failure to do so will constitute a breach of this Agreement.

Cancellations and Refunds Cancellations may be made by calling AncestryDNA at 1-800-958-9124 begin_of_the_skype_highlighting              1-800-958-9124      end_of_the_skype_highlighting and providing the same information that you provided when you ordered your AncestryDNA Service. If you cancel within the first 30 days of placing your order, and before you returned a DNA sample to AncestryDNA, you will receive a refund equal to the price paid for the AncestryDNA Service minus $25. If you cancel within the first 30 days of placing your order but after you have returned a DNA sample to AncestryDNA, you will receive a partial refund equal to one half of the price paid for the AncestryDNA Service. AncestryDNA does not refund shipping & processing charges or any applicable taxes paid. Your credit will be provided via the credit card you used to purchase the AncestryDNA Service. Please allow a reasonable time for the credit to reach you.

Replacement Testing Kits Should you require a replacement DNA testing kit, you may call AncestryDNA at 1-800-958-9124 begin_of_the_skype_highlighting              1-800-958-9124      end_of_the_skype_highlighting and providing the same information that you provided when you ordered your AncestryDNA test. Replacement kits are $25 per kit (plus applicable shipping and handling).

Prices Subject to Change. Prices may be changed by AncestryDNA at any time.

7. User Provided Content

Portions of the AncestryDNA Website allow you and other Users to contribute material to be displayed on the AncestryDNA Website (“User Provided Content”). For User Provided Content, AncestryDNA is merely hosting and providing access. We cannot, and expressly do not, accept any liability with regard to such User Provided Content (including with respect to its accuracy). While we cannot preview or monitor User Provided Content, we may apply, at our discretion, automated filtering tools to monitor and/or delete any content that AncestryDNA believes to be in violation of this Agreement. We reserve the right to act expeditiously to remove or disable access to any User Provided Content that we believe violates this Agreement. We are also sensitive to the copyright and other intellectual property rights of others. For complaints regarding copyright infringement, illegal or inappropriate content, click here.

The decision to upload information to the AncestryDNA Website is your responsibility and you should only submit content that belongs to you or that will not violate the rights of others. Be aware that content belongs to the creator of that content and you should not reproduce or submit anything without permission of the owner. By submitting material to the AncestryDNA Website, you represent that you have the right to do so or that you have obtained any necessary third party consents (e.g., under privacy or intellectual property laws). Upon the request of AncestryDNA you agree to furnish AncestryDNA with any documentation, substantiation and releases we deem necessary or appropriate to verify and substantiate your compliance with this provision.

By submitting User Provided Content to AncestryDNA, you grant AncestryDNA a transferable license to use, host, sublicense and distribute your submission to the extent and in the form or context we deem appropriate on or through any media or medium and with any technology or devices now known or hereafter developed or discovered. You hereby release AncestryDNA from any and all claims, liens, demands, actions or suits in connection with the User Provided Content, including, without limitation, any and all liability for any use or nonuse of your User Provided Content, claims for defamation, invasion of privacy, right of publicity, emotional distress or economic loss. Except for the rights granted in this Agreement, AncestryDNA acquires no title or ownership rights in or to any content you submit and nothing in this Agreement conveys any ownership rights in the content you submit to us.

8. Promotions

Any sweepstakes, contests, raffles or other promotions (collectively, “Promotions”) made available by AncestryDNA may be governed by rules that are separate from this Agreement. If you participate in any Promotions, please review the applicable rules as well as our Privacy Statement. If the rules for a Promotion conflict with this Agreement, the Promotion rules will apply to those specifically conflicting sections only.

9. Modifications to this Agreement

AncestryDNA has the right, at its sole discretion, to modify this Agreement at any time. Changes will be posted on the AncestryDNA Website and by changing the date of last revision on this Agreement. If any portion of this Agreement or any change to the AncestryDNA Website is unacceptable to you or will cause you to no longer be in compliance with the Agreement, you may cancel your subscription by following the instructions in this Agreement. Continued use of the AncestryDNA Website following posted changes in this Agreement means that you accept and are bound by the changes.

10. Liability Disclaimer

No Warranty. We make no express warranties or representations as to the quality and accuracy of the Content, AncestryDNA Website or Service, and we disclaim any implied warranties or representation to the maximum amount permissible under applicable law. We offer the DNA testing and AncestryDNA Website on an “as is basis” and do not accept responsibility for any use of or reliance on the AncestryDNA Website, Content or Service, or for any disruptions to or delay in the AncestryDNA Website, Content or Service. In addition, we do not make any representations as to the accuracy, comprehensiveness, completeness, quality, currency, error-free nature, compatibility, security or fitness for purpose of the AncestryDNA Website, Content or Service. AncestryDNA does not guarantee the adequacy of the Service or AncestryDNA Website or compatibility thereof to your computer equipment and environment and does not warrant that this AncestryDNA Website, the Content, the Service, its servers, or any emails which may be sent from AncestryDNA are free of viruses or any other harmful components. AncestryDNA does not control or endorse any actions resulting from your use of the AncestryDNA Website, Content or Service and specifically disclaims any liability regarding any actions that may result from your use of the Service or AncestryDNA Website.

Limitation of Liability; Exclusive Remedy.We limit our liability to the maximum amount permissible under applicable law. In particular, we shall not be liable for any damages that we cause unintentionally and we shall not be liable to you for any actual, incidental, indirect, special, punitive or consequential loss or damage howsoever caused, provided that nothing in this Agreement will be interpreted so as to limit or exclude any liability which may not be excluded or limited by law. If you are dissatisfied with any portion of the AncestryDNA Website, or with any clause of these terms, as your sole and exclusive remedy you may discontinue using the AncestryDNA Website.

Third Party Services. AncestryDNA may, from time to time, provide opportunities to users of the AncestryDNA Website to purchase services from third parties. The websites of those third parties are subject to terms and conditions different from those found here and it is your responsibility to ensure that you have read and understood them. AncestryDNA makes no warranty concerning, is not responsible for and does not endorse any third party provided goods or services, and you agree that any recourse for dissatisfaction or problems with those goods or services will be sought from the third party provider and not from AncestryDNA.

11. Disputes

If a dispute arises between you and AncestryDNA, our goal is to provide you a neutral and cost effective means of resolving the dispute quickly. To that end, you agree to first contact AncestryDNA Customer Support at 1-800-958-9124 begin_of_the_skype_highlighting              1-800-958-9124      end_of_the_skype_highlighting to describe the problem and seek a resolution. If that does not resolve the issue, then you and AncestryDNA agree to the following methods to resolve any dispute or claim between us. First, you agree that this Agreement is governed by the laws of the State of Utah, without regard to its principles on conflicts of laws, and the federal law of the United States of America. Second, you agree that you will seek arbitration consistent with the rules set forth below before initiating any litigation. If arbitration cannot resolve the issue, you agree to submit to the personal jurisdiction of the courts located within Utah County, Utah for the purpose of litigating all such claims or disputes.

Any arbitration will be governed by the Commercial Dispute Resolution Procedures and the Supplementary Procedures for Consumer Related Disputes of the American Arbitration Association (collectively, “AAA Rules”). The AAA Rules and costs are available online at www.adr.org or by calling the AAA at 1-800-778-7879 begin_of_the_skype_highlighting              1-800-778-7879      end_of_the_skype_highlighting. YOU AND ANCESTRYDNA AGREE THAT EACH MAY BRING CLAIMS AGAINST THE OTHER ONLY IN YOUR OR ITS INDIVIDUAL CAPACITY, AND NOT AS A PLAINTIFF OR CLASS MEMBER IN ANY PURPORTED CLASS OR REPRESENTATIVE PROCEEDING. Further, unless both you and AncestryDNA agree otherwise the arbitrator may not consolidate more than one person’s claims, and may not otherwise preside over any form of a representative or class proceeding. Notwithstanding the foregoing, this arbitration agreement does not preclude you from bringing issues to the attention of federal, state, or local agencies. Such agencies can, if the law allows, seek relief against us on your behalf. This arbitration provision shall survive termination of this Agreement.

12. Miscellaneous

We reserve the right to assign or transfer our rights and obligations under this Agreement. These terms are personal to you and, as a result, you may not without the written consent of AncestryDNA assign or transfer any of your rights and obligations under this Agreement.

You acknowledge and agree that AncestryDNA may disclose your information to third parties subject to this Agreement, the AncestryDNA Privacy Statement and if AncestryDNA believes that it is required to do so by law or a court order or when you give permission to make such a disclosure.

In the event that any term of this Agreement is held to be invalid or unenforceable, the remainder of this Agreement shall remain valid and enforceable. Any failure by us to enforce any term of the terms of this Agreement shall not affect our right to require performance at any subsequent time, nor shall the waiver by us of any breach by you of any provisions of these terms be taken to be a waiver of the provision or provisions itself.

You agree to indemnify us against all liabilities, claims and expenses that may arise from any breach of this Agreement by you or otherwise as a result of your contribution of User Provided Content or your use of the Services or AncestryDNA Website.

Official correspondence must be sent via postal mail to:

Ancestry.com DNA, LLC
Attn: Member Services
360 W 4800 N
Provo, UT 84604

This Agreement, including any terms, conditions and policies expressly referenced herein, shall constitute the complete understanding and agreement between you and us, and shall supersede and cancel any prior or contemporaneous understandings and agreements, except as expressly provided otherwise by AncestryDNA.