American Society of Human Genetics Publishes Updated Genetic Ancestry Testing Statement

Today at noon, the American Society of Human Genetics lifted an embargo on “Inferring Genetic Ancestry: Opportunities, Challenges, and Implications (pdf),” which will be published in the May 14th issue of the American Journal of Human Genetics.

This paper is a follow-up to a 2008 paper called the “ASHG Ancestry Testing Statement and Recommendations” in which a committee from the ASHG addressed concerns about the claims made by genetic ancestry testing companies.  I wrote an article here on the blog at the time – The ASHG Ancestry Testing Statement and Recommendations – that highlighted a number of concerns I had about the statement and the recommendations.

When I wrote the November 13, 2008 blog post, I began by pointing out my personal positions, which have largely remained unchanged in the intervening 1.5 years:

  • After years of experience in this field, I am a proponent of genetic genealogy testing, a scientific endeavor that has been utilized by more than 800,000 customers.
  • I believe that education, not more government regulation, is the most efficient and appropriate answer to the issues raised by the authors of the paper.
  • I believe that autosomal genetic genealogy testing is in its infancy and should only be used with the understanding that the results are only extremely rough estimates that are subject to change as the field develops.

The 2010 paper begins with a brief introduction and a table of most of the companies currently offering genetic ancestry tests.  The paper also discusses many of the issues associated with genetic ancestry tests, including: (i) the differing definitions of ancestry [of which there are many]; (ii) the tools for inferring ancestry; (iii) accuracy of those inferences; and (iv) ancestry and health, among several other things.

Overall, as discussed in great detail below, the authors have done an excellent job of addressing the concerns I raised in my review of their 2008 paper, which I felt was a much poorer review of the field (see below where I’ve compared my concerns from 2008 to the 2010 paper).

The 2010 paper ends with the following two recommendations:

  • “Leadership of the human-genetics community, diverse in its interests and its own identities, should develop mechanisms for promoting thoughtful and rigorous use of genetic ancestry estimation in academic research.”
  • “Interested scientific and scholarly societies should collaborate to convene a national roundtable discussion of DTC genetic ancestry testing.”

Interestingly, the second recommendation is similar to the one that I made after reviewing the ASHG’s 2008 paper when I stated that “I hope that the Task Force is actively conversing with people outside the committee, including commercial testing entities, researchers, and customers of genetic genealogy in order to obtain a well-rounded view of the field.”

Additionally, the 2010 paper specifically offers an “alternative approach” to federal regulation of genetic ancestry testing (something that I have often and repeatedly stated my disagreement with):

  • “Recently, Lee and colleagues called for federal regulation of genetic ancestry testing.  At this juncture, we offer an alternate approach, one that might itself lead to federal oversight, if subsequently deemed appropriate, necessary, or practical.  We believe that effective decision making regarding genetic ancestry inference, in particular DTC genetic ancestry testing, will be best initiated through cooperative interaction among a variety of stakeholders, including suitable federal agencies.  Considering that such collective engagement has not yet occurred, it is premature to assume reticence or resistance on the part of any of the players or that federal regulation is the only recourse.”

I thought it might be an interesting exercise to determine whether the new paper addressed the concerns I raised after reading the 2008 paper.

General Concerns:

  • The 2008 Paper – In 2008, I wrote that “[t]here are statements in the paper about psychological reactions to testing results, including the conclusion that ‘[t]he occurrence of or potential for emotional distress in people and groups following receipt of conflicting information about their ancestry has been well documented.’  Unfortunately, the statements are based on anecdotal stories or isolated examples rather than any systematic or scientific investigation of the reactions of individuals to the results of genetic genealogy testing.  I am unaware of any systematic objective study that looks at the reactions of individual to genetic genealogy testing results (outside of the paternity test or health testing arenas).  Indeed, a prior policy paper from the ASHG cites only a BBC documentary that examined the ancestry of three individuals of African descent and a newspaper article to support their conclusion that “[t]est-takers may…suffer emotional distress if test results are unexpected or undesired.”  I would suggest that the Task Force, rather than assume that this “emotional distress” response to genetic genealogy test results has been well documented, conduct an objective study specifically tailored to analyze genetic genealogy testing. The difference between the results of genetic genealogy testing and the results of health or medical testing is so vast that drawing comparisons between the two is extremely problematic and potentially inaccurate.
    • The 2010 Paper – The new paper states that “Knowledge about genetic ancestry, particularly if undesirable and unexpected, can lead to the reshaping of group, familial, or personal identity (cites omitted)…The occurrence of, or potential for, emotional distress in people, families and groups after receipt of conflicting information about their identity through DTC ancestry testing has also been discussed [cites omitted]. Nonetheless, some research focused on consumers of ancestry testing has revealed that although ancestry tests might promote genetic thinking about ancestry and ‘‘race,’’ test takers also were able to construct meaningful narratives of their identity. [citing to Alondra Nelson’s article; see Article Review: “Bio Science: Genetic Genealogy Testing and the Pursuit of African Ancestry”].  Clearly, additional empirical research will need to adequately explore the relationship between genetic ancestry testing and the identities and overall psychological well-being of test takers, their families, and their communities.”

    • Thus, the 2010 statement clearly weakened the stance of negative perceptions from “well-documented” to “has been discussed,” and cites Dr. Nelson’s very interesting research, which suggests that test takers interpret results to meld with their preconceived identity.  The section ends by suggesting that more research is needed, which I suggested in my 2008 review.

  • The 2008 Paper – In 2008, I wrote that “[t]he paper muddles the distinction between Y-DNA/mtDNA testing and autosomal testing, even though the differences are huge.  The results of Y-DNA and mtDNA tests are STR numbers, SNP designations, or differences from the CRS which are then used to estimate a haplogroup or compare with another’s results.  Given the extensive data regarding haplogroup designation, the estimates are highly accurate.  Additionally, a haplogroup designation implies only a very broad geographical origin many thousands of years ago; it is not an estimation of genetic ancestry, as the authors of the policy paper imply.  Haplogroup designations have existed for more than 20 years and continue to be used by population geneticists and anthropologists.  The results of autosomal testing, however, are estimations of genetic ancestry.  These autosomal tests look at anywhere from 13 to 500,000 locations – out of billions – on the human genome and return percentages of ancestry based on those markers.  Autosomal testing can be confusing to test-takers because customer often assumes that the percentages are final and represent an accurate picture of their entire genome.”
    • The 2010 Paper – The 2010 statement more clearly breaks up the analysis into the very different fields of “mtDNA and Y Chromosome Markers” and “Autosomal Variants” in one section, and “Lineage Identification with Uniparental Markers” and “Admixture Estimation” in another.

  • The 2008 Paper – In 2008, I wrote that “[t]he authors mix the issues associated with the everyday genetic genealogy test-taker with the issues faced by very specific groups of test-takers.  For example, Native American groups are concerned about the effects that genetic genealogy will have on group identity and membership.  These same concerns have also been raised by lineage societies such as the SAR and the Mayflower Society.  Any regulations that a group believes it needs should be at the level of the group, not at the level of the testing! Groups that have these concerns should themselves decide whether and how to use genetic genealogy results for membership and group identity (such as the DAR and Mayflower Society are doing); regulating genetic genealogy at the testing level is not the most efficient or appropriate way for these groups resolve the ethical and social concerns.”
    • The 2010 Paper – The 2010 statement has a section on page 10 that addresses this issue.  It states that “[r]eports of the use (or intended use) of ancestry test results to make claims for benefits through affirmative action or for rights perceived to be associated with their new-found Native American status have increased unease over the loss or gain of certain rights or entitlements,” but reasonably notes that “It remains to be seen what tangible effects (if any) genetic ancestry inference will have on these pre-existing entitlement issues.”  Here, again, the ASHG has addressed my concerns.

  • The 2008 Paper – In 2008, I wrote that “[t]here is mixing of the controversial phrase “direct-to-consumer” with genetic genealogy.  Of course it’s direct-to-consumer, who else would the results go to?  Surely the authors of the paper aren’t suggesting that genetic genealogy tests should be ordered and reviewed by a doctor or genetic counselor.  That would be a ridiculous restriction.”
    • The 2010 Paper – The 2010 statement still uses the term DTC, but I think in the last 1.5 years the use of the term in general has been to indicate that the testing is done without the use of a doctor or counselor rather than to suggest that a doctor or counselor should be involved.

  • The 2008 Paper – In 2008, I wrote that “[a]lthough I am unaware of the composition of the ASHG Task Force, I hope that it is made up of a diverse group. Additionally, I hope that the Task Force is actively conversing with people outside the committee, including commercial testing entities, researchers, and customers of genetic genealogy in order to obtain a well-rounded view of the field.”
    • The 2010 Paper – The 2010 statement, very much in line with my 2008 recommendation, concludes with the recommendation that there be a “face-to-face conversation among ancestry-testing companies and promoters, consumers, community leaders, advocacy and interest groups, geneticists, social and behavioral scientists, humanists, healthcare providers, legal professionals, federal agencies, media, and other key stakeholders should be to identify major issues of concern and brainstorm practical solutions.”

Thus, with this paper the ASHG appears to have addressed almost every one of the concerns and misconceptions I raised in my review of the 2008 statement and recommendation.  Actually, it’s almost uncanny.  I applaud the committee for their work and thank them for addressing these issues.  Hopefully, when the ASHG’s proposed “national roundtable discussion of DTC genetic ancestry testing” is convened, I will be able to attend.

11 Responses

  1. Blaine Bettinger 14 May 2010 / 7:54 am

    I’d love to hear your comments on my post, or on the ASHG statement in general. I’ve noticed that there’s much less conversation about this paper that there was about the 2008 paper, but I believe that’s due to the fact that the paper is behind a subscription wall, which I find very disappointing (and contrary to the eventual conclusions of the article).

    Do you agree with my assessment of the paper, or do you disagree? Why? What (polite and civil) message would you give the authors?

  2. Walter J. Freeman 15 May 2010 / 2:45 pm

    Great reporting and review. Very professional — no cheap shots, no rancor, no emotion. Very admirable control. You certainly made your point in the subtle “Actually, it is almost uncanny.” line as to the fact that your voice is clearly being heard without acknowledgment or credit.

    There is a certain arrogance associated with some professional groups and a disdain for any who are not credentialed club members. Something like, “I have a degree in a related field, I am published, I am a member of the inner court, you are not and therefore are a nobody who is beneath my attention and certainly beneath any recognition. In other words scientific snootiness is alive and well.

    More than likely any report by such an group is authored by one person and reviewed and added to by maybe one or two others, before being generally rubber stamped by a committee. Thus any aloofness and condescension is built in by the primary author’s own points of view and ideas of superiority, along with a distinct lack of in-depth knowledge and personal experience on the area in which he/she is critical. Other committee members being equally ignorant thus have no basis to object and to push back, so the whole thing gets rubber stamped.

    This is the way so many such committees work.

    So it goes.

    But such an attitude usually folds in short order if one were a face to face objector and a champion for a different point of view which, hopefully, is more in tune with realty and the actual practice of genetic genealogy. The psychological damage argument is a rather weak one, which goes to show just how far out of touch the primary author of the 2008 report and the approval committee really is.

    The real solution is to have representation on the committee to help guide and challenge where necessary preconceived and ungrounded notions. There are currently in the field a number of such individuals who have academic and work credentials, which should provide the minimum entry requirements for admission to the bar, so to speak.

    Certainly yourself, Ann Turner, Doran Behar (FTDNA), Connie Gorman (FTDNA), Thomas Krahn (FTDNA), John Chandler, Ken Nordtvedt, katherine Borges, and others would be worthwhile people to consider infiltrating this self-appointed cabal of academically isolated misguided do-gooders. Serious encouragement needs to be organized and applied from the genetic genealogical community to gain access to these types of organizations, if for no other reason than to avoid the potential harm that may well come from over regulation of something that is doing quite well on its own.

    I would be most interested in learning who comprises the committee on Genetic Ancestry Testing of the ASHG.

  3. Marie Stephenson 15 May 2010 / 3:00 pm

    hey Blaine, i would like to ask you some questions but not the whole world.

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