JASON, a group of between 30 and 60 scientists and created in 1960 which advises the U.S. government on scientific and technological issues, authored the report entitled “The $100 Genome: Implications for the DoD,” (pdf) which was released on January 13, 2011.

In the report, the scientists provided the following recommendation:

“The DoD should establish policies that result in the collection of genotype and phenotype data, the application of bioinformatics tools to support the health and effectiveness of military personnel, and the resolution of ethical and social issues that arise from these activities. The DoD and the VA should affiliate with or stand up a genotype/phenotype analysis program that addresses their respective needs. Waiting even two years to initiate this process may place them unrecoverably behind in the race for personal genomics information and applications.”

It’s good to see acknowledgment in the report of potential ethical issues, but there was no substantive discussion of them.  Deciding to collect DNA and sequence genomes of troops is, quite frankly, a no-brainer, and the report came to all the obvious conclusions.  What the military really requires is a report on how to discover, analyze, and address the myriad ethical issues associated with the obvious decision to sequence genomes.

A news article published yesterday in nextgov (“Report urges Defense to collect genome data on all troops“) discusses a few of the potential ethical issues, and includes a few quotes from me:

“According to Blaine Bettinger, a Syracuse, N.Y.-based intellectual property lawyer who has a doctorate in biochemistry with a concentration in genetics and writes the Genetic Genealogist blog, a mass collection of genome data at Defense could eventually help improve the health of military members and their families. Collecting basic genomic information on such a large population could also “benefit all of humanity,” Bettinger said.

But Bettinger warned that collection of such data also could be used against individuals if, for example, they had conditions the military could cite as a reason to limit their careers.”

I had a few major concerns about the potential ethical issues with this project, including the following:

1) privacy concerns (since anonymity of genomic data, if it’s made public or leaked, is nearly impossible to maintain);

2) sequencing without informed consent of the members of the military (will it be fine print, or explicitly explained?);

3) use as a screening method (either for denying entrance into the military, or used to steer people toward certain careers w/in the military;

4) and lastly, the unique problems that arise when several generations of a family enlist.  For example, John Doe Jr. enlists and reports that his father is General John Doe Sr.  An army doctor casually glances at the Doe’s genome reports on his iPad and says “no he’s not,” since they don’t share any appreciable amount of DNA.

Are there any potential ethical

There is a great potential for good here, and a great potential for harm.  How the military decides to proceed will determine which prevails.

From the paper:

“For the past decade, since the advent of genetic genealogy, it has been accepted that subgroups of haplogroup C and Q were indicative of Native American ancestry. Specifically, subgroups C3b and Q1a3a, alone, are found among the Native peoples of North and South America. Other subgroups of haplogroup C and Q are found elsewhere in the world, not in North or South American, and conversely, C3b and Q1a3a are not found in other locations in the world. This makes it very easy to determine if your direct paternal ancestor was, or was not, Native American. Or so it seemed.”

Estes is a scientist and business owner in the information technology arena.  She is the Administrator of the Lost Colony DNA Project, and more than 20 surname projects.  Her contact information can be found in the paper.

“An initial comparison of the two sequences has brought some exciting discoveries to light. Contrary to the assumption of many researchers, it would appear that some Neandertals and early modern humans interbred. According to the researchers’ calculations, between one and four percent of the DNA of many humans living today originate from the Neandertal. ‘Those of us who live outside Africa carry a little Neandertal DNA in us,’ says Svante Pääbo.  Previous tests carried out on the DNA of Neandertal mitochondria, which represents just a tiny part of the whole genome, had not found any evidence of such interbreeding or ‘admixture.’”

Once this study came out, I knew it was only a matter of time before companies began offering tests that examined the percent of Neanderthal contribution to a test-taker’s genome.

The Neanderthal Index

In May 2010, DNA Consultants began offering a test called the Neanderthal Index.  Priced at USD $90.00, the test purports to “estimate how much Neanderthal is in your ancestry.”  From the test description:

“Created in response to the phenomenal interest generated by the revelation in scientific journals on May 8, 2010 that most humans are part Neanderthal (Green et al), our autosomal DNA Neanderthal Index can be added to your DNA Fingerprint Test or DNA Fingerprint Plus. It reports any strong matches you have with populations identified as Archaic, those preserving the earliest earmarks of interbreeding between Neanderthals and humans (Homo sapiens sapiens). The stronger the match the higher the likelihood that your ancestors gave you Neanderthal genes.”

The site also provides an FAQ page, and a sample test result (pdf).  The test returns results on a scale of 0.1 to 5.0, but it is unclear if this is meant to be a percentage.

It is vital to understand that this test does NOT test SNPs.  Instead, it uses CODIS markers to estimate whether a test-taker’s results are likely to be found in “archaic populations,” which themselves are hypothesized to be more likely to possess Neanderthal DNA (i.e., “relatively little genetic inflow.”).  The list of archaic populations is found in the FAQ, and includes many Middle Eastern and worldwide indigenous populations.  From the test description:

“Note that this test does not directly examine your genetic material. Only a large-scale genomic sequencing procedure like the Human Genome Project or Draft Neanderthal Genome can do that. The Neanderthal Index is based on probabilistic predictions of the occurrence of your unique DNA Fingerprint in Archaic Populations retaining Neanderthal genomics and traits.”

While the website does a good job of explaining that it does not identify any specific “Neanderthal SNPs” but rather makes a incredibly rough probabilistic estimate based on the Science paper, it is important to fully understand the many limitations of this test.

DIY Genomics

Meanwhile, over at 23andMe, several test-takers refuse to wait for commercial companies to offer Neanderthal-specific testing.  In addition to asking in the 23andMe forums when the Ancestry Painting will include the percentage of Neanderthal DNA, others have proposed several so-called “Neanderthal SNPs” based on research published in other recent papers.  These SNPs include rs1864325 (forum discussion here) and rs930557 (forum discussion here).   This collaborative effort by 23andMe’s test-takers is just one of the many reasons that personal genomics and affordable sequencing are so exciting.

Although the science behind these Neanderthal SNPs is only in its infancy and should only be taken with an enormous grain of salt at this stage, there will be more of these types of studies in the future to provide companies and pioneers with new data to explore.  And we, the personal genome pioneers, will get to learn and explore as these developments unfold.

Conclusions

While there aren’t yet any commercially-available tests that examine your genome for evidence of Neanderthal contribution, there will undoubtedly be such tests in the next few years, especially as further drafts of the Neanderthal genome are released.

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.

In October 2008, I reviewed an article by Dr. Alondra Nelson in the journal Social Studies of Science entitled “Bio Science: Genetic Genealogy Testing and the Pursuit of African Ancestry” (Social Studies of Science 2008 38: 759-783).  The article was about the complex interpretation of the results of genetic genealogy testing by African-Americans and black British.  Dr. Nelson is Associate Professor of Sociology at Columbia University in NY.

On Friday, an article by Dr. Nelson appeared in The Chronicle of Higher Education entitled “Henry Louis Gates’s Extended Family,” which is an introduction and review of the current PBS documentary miniseries Faces of America. Regarding the genetic testing aspect of the show, Nelson writes:

If the findings of conventional genealogical research produce fireworks, the results of the DNA analysis generate shock and awe. “Know Thyself,” the final episode, which shares its title with the slogan of Knome Inc., focuses mostly on genetic genealogy. Whereas prior shows relied heavily on analysis of mitochondrial DNA (mtDNA) and Y-chromosome (Y-DNA), yielding results that included at most about 2 percent of one’s complete genetic inheritance, in Faces techniques are used that probe deeper into more of the genome.

The technical aspects of genetic ancestry tracing are explained, but without sufficient social context, much the way a manual can tell you how to operate a car without explaining automobiles’ role in modern industry, the development of suburbia, or the emergence of youth culture. We can’t hold a documentary for a general audience responsible for not presenting a complex metanarrative on the philosophy of genetic science. But we can expect some acknowledgment and interpretation of technology’s limits.

It is likely that some genetic genealogists will instantly disagree with or discredit Nelson after reading this article, since it might appear that she is being critical of genetic genealogy, but I would disagree.  In my opinion, however, it is important to be aware of Nelson’s concerns, since they are concerns shared by many people across the globe.  For better or for worse, Faces of America will be many individual’s first introduction to genetic genealogy, and without seeing the whole series yet, I hope that Gates does a fair job of introducing this wonderful technology without glossing over its limitations, particularly as they might apply to minority or marginalized populations.

That being said, I also believe that the individual shares the responsibility for understanding this technology before deciding to undergo testing.  We are all responsible, in part, for our own education.

Rather than discrediting genetic genealogy, I believe that Nelson embraces the ability of genetic testing to help some people – and ultimately society – understand our present and our past, as well as how we are all so closely related, either through our genetics or through our shared history.  Indeed, the end of the article ends with the note that Nelson “is at work on a book about genetic ancestry tracing and African diaspora culture,” which I look forward to reading.

What are your thoughts after reading Dr. Nelson’s article?

Faces of America continues every Wednesday evening from 8 – 9 p.m. ET on PBS stations through March 3rd.

Whit Athey has announced publication of the Fall 2009 issue of the Journal of Genetic Genealogy.  This is Whit’s last issue as Editor, and I’d like to extend my sincere appreciation to him and all the work he has put into JoGG over the past 5 years.  Every issue requires hours of work to coordinate reviews and format articles, among the many other aspects of publishing.  Whit’s tireless work has helped add so much to the field.

I’d also like to announce that with Whit’s departure I will be assuming the position of Editor of JoGG.  I’m excited about this endeavor, and I look forward to working with the members of JoGG as well as the authors of the most recent research in the field.  So, if you have an article or even just an idea for an article you’d like to discuss, please fee free to contact me (blaine_5 at hotmail.com, or blainebettinger at gmail.com).

The Fall 2009 Issue

Included in the Fall 2009 issue are the following articles:

• Editor’s Corner – “It’s Time to Retire” – Whit Athey
• ‘Satiable Curiosity – “Mix and Match: DNA Stories from an Ancestor” – Ann Turner
• Interview With Bennett Greenspan

Reports

• Y-STR Haplotypes and Predicted Haplogroups in the Slovak Haban Population
• HLA Polymorphisms in Forros and Angolares from Sao Tome Island (West Africa): Evidence for the Population Origin
• The Advantages of a Dual DNA/Documentary Approach to Reconstruct the Family Trees of a Surname
• Where Have All the Indians Gone? Native American Eastern Seaboard Dispersal, Genealogy and DNA in Relation

Special Section: Cluster Analysis and the TMRCA Problem

• Introduction
• Y-STR Mountains in Haplospace, Part I: Methods
• Y-STR Mountains in Haplospace, Part II: Application to Common Polish Clades
• DNA Genealogy, Mutation Rates, and Some Historical Evidence Written in Y-Chromosome, Part I: Basic Principles and the Method
• DNA Genealogy, Mutation Rates, and Some Historical Evidence Written in Y-Chromosome, Part II: Walking the Map
• The Use of Correlation Techniques for the Analysis of Pairs of Y-Chromosome DNA Haplotypes, Part I: Rationale, Methodology and Genealogy Time Scale
• The Use of Correlation Techniques for the Analysis of Pairs of Y-Chromosome DNA Haplotypes, Part II: Application to Surname and Other Haplotype Clusters

The New York Times Tackles DTC Genetic Testing

An article in yesterday’s New York Times by Jane E. Brody – “Buyer Beware of Home DNA Tests” – argues that DTC genetic testing is fraught with danger (the article and some of Brody’s arguments are summarized by Grace Ibay of Genetics & Health: “Seven Reasons Why Home DNA Tests Are Hype”).  The author even lumps in genetic genealogy (which has been around for over 9 years now, hardly a “new industry” that has sprung up “to cash in” on new science):

“As a source of entertainment at so-called spit parties or an effort to trace genetic ancestry, the tests might be seen as relatively harmless (unless someone is appalled to discover who their ancestors might be).  But for the many people who are bypassing the medical profession to determine, they believe, how likely they are to develop a life-threatening disorder, experts say direct-to-consumer genetic testing is fraught with potential dangers.”

Oh no, people might be “appalled” to discover their ancestors!  I can assure you that people were “appalled to discover who their ancestors might be” long before DNA testing!!  If the results of genetic genealogy testing upsets people, the government better outlaw census records, historical societies, and grandma’s stories after Thanksgiving dinner because the information you’ll receive there will surely be much more ‘appalling.’

Jen McCabe has a terrific thought-provoking rebuttal to the NYT article at ‘Jen’s Posterous’ – “Paternalism and “Patient Beware” Messages Hit DTC Genomic Testing.”  McCabe does a great job of deconstructing the arguments and countering them with her own.  I’ll admit that I’m terribly biased here, but I think that McCabe raises some excellent points.

I wouldn’t be surprised to see more response to this article, including perhaps at Genetic Future or Genomics Law Report.

Dr. Michael Hammer, the Ancestor Hunter

Miller-McCune has a great article – “The Ancestor Hunter” – about the University of Arizona’s Michael Hammer, who is a major contributor to the field of genetic genealogy.  Many readers will know that Dr. Hammer is also FTDNA’s Chief Scientist.  From the FTDNA about page:

“A Biotechnology Research Scientist at the University of Arizona with appointments in the Department of Anthropology and the Department of Ecology and Evolutionary Biology, as well as Director of the Genomic Analysis and Technology Core facility, Dr. Hammer received his PhD in Genetics from the University of California at Berkeley and was a post-doctoral fellow at Princeton and Harvard Universities. He co-authored the first paper showing that present-day Cohanim are descended from a single male ancestor.”

The article discusses Dr. Hammer’s work in the field, including Native American studies, Cohanim relatedness, and co-founding the DNA Shoah Project, for example.

Questioning a Journalist’s Humanity

A few weeks ago I corresponded with journalist Peter Aldhous of NewScientist magazine about his mtDNA results from deCode Genetics.  Without any other information, he wondered if I could identify the probable haplogroup of two mtDNA samples.  One was easily identifiable, while the other was such a garble that I was thrown for a loop.  So, just to be sure, I wrote back to Peter and asked him a now-infamous question:

“This is a strange question, but are you sure this is Homo sapiens?”

Peter writes in his article:

“It’s not every day that an expert queries whether your DNA is human, so when I received this comment by email earlier this month I was somewhat bemused.

“I am not in fact the result of a coupling between human and alien, nor the product of some twisted genetic experiment. Instead, Blaine Bettinger, who blogs as The Genetic Genealogist, had been baffled by a DNA profile generated in error by deCODEme, a leading commercial “personal genomics” service provided by Decode Genetics in Reykjavik, Iceland. The false profile seems to be the fault of a software bug.”

The article was mentioned by GenomeWeb – “You Are Human, Right?” – and there are two extremely good blog posts about the article and the situation by Daniel MacArthur at Genetic Future – “There’s many a slip ‘twixt spit and SNP: errors in personal genomics data” and Dan Vorhaus at Genomics Law Report – “Leveraging the Crowd to Understand Your Genome.”

So what is the take-home message?  Of course it is not that DTC genetic testing is dangerous or requires government regulation; rather, it is that both DTC companies and consumers must be diligent.  As MacArthur writes:

“But the most important piece of advice for personal genomics customers is to engage with your data.  Aldhous only detected these anomalies because he was exploring his own genetic data in multiple ways, cross-checking it against both other data and his own (informed) expectations, and was persistent enough to follow up on the strange results he found.

“That’s a good example for other personal genomics customers to follow: rather than being a passive recipient of genetic forecasts, dig into your data and see if it makes sense, and keep asking questions until it does. In addition to making it more likely that you’ll pick up any errors in your results, you’ll also develop a much deeper understanding both of the nature of genetics and of your own genome.”

And Vorhaus posits that traditional sources of genetic interpretation – i.e. physicians – might be supplemented by other sources, including genome sharing:

“From unraveling bioinformatics errors, as Aldhous did, to adjusting medications, to uncovering unknown genetic variants, the upside of utilizing an open-access approach to personalized genomic interpretation is the ability to allow an untold number of eyes to comb over your data in search of something important (or perhaps just interesting). It seems highly improbable that any combination of DTC genomics companies and open-source genomics resources will ever completely supplant a one-on-one consultation with a trained medical professional, particularly where clinical genetic guidance is required. And concerns over privacy and misuse of data may inhibit many from sharing their own genomic data, at least at present. But there appears to be a significant role for open-source genomics resources to play in the continuing expansion and democratization of personal genomic inquiry.”

I encourage anyone who is interested in DTC genetic testing or just genetic genealogy to read through some of these articles to get a feeling for some of the issues that are currently being discussed regarding this field.

Barbara Ameer and Norberto Krivoy of the American College of Clinical Pharmacology (ACCP) have an article (pdf) in The Journal of Clinical Pharmacology that promotes regulation of DTC genetic tests (which could conceivably include genetic genealogy tests).  The Genomics Law Report analyzes the paper’s arguments and concludes with the following:

“Without convincing evidence of the harms of DTC genetic testing, it remains difficult to fully justify more rigorous governmental regulation, or to anticipate its content, structure or ultimate effect, which perhaps explains why such regulation continues to remain just over the horizon.”

If you’re interested in this area, click over to the Genomics Law Report and read this article (as well as the original ACCP article).

The Onion, an infamous mock news site has a (surprisingly intelligent) article today entitled “7 Million People Direct Descendants Of Single Smooth-Talking Ancestor” about a “study” that has found that millions of people around the world have a genetic marker that links them to “a single smooth-talking common ancestor.”

Randy Seaver of Genea-Musings brings the article to my attention (thank you Randy!):

The headline screams “7 Million People Direct Descendants of Smooth-Talking Ancestor” — see the article here in the Science and Technology section of The Onion. It sounds right up the genetic genealogy alley, doesn’t it? Megan, Blaine, Emily – why haven’t you written about this guy? Are 7 million descendants not enough?

Gwilym of Many Conquests

According to the article, after analyzing 4,000 samples from around the world, the Baltimore, Md. researchers announce that “the lineage appears to have originated with a highly virile ninth-century Welsh nobleman known as Gwilym of Many Conquests”:

“This is one of the largest diasporas known to have descended from a single progenitor,” said head researcher Lawrence Ghilcrest, adding that DNA evidence now corroborates stories about the Welshman that historians once dismissed as myth. “To have propagated his genetic material so effectively, and across so much territory, we can only infer Gwilym was quite the charmer.”

The article is clearly a reflection of several recent studies suggesting a link between prevalent traits or genetic markers and an ancient “prolific” ancestor.  The most famous example is a study that found that 8% of men in a large region of Asia have an identical recent Y-chromosomal lineage and suggested that these men could all be descendants of Genghis Khan because he could have been a very “successful” progenitor (see the 2003 study here and a related news story: “Genghis Khan DNA test attracts hordes of takers“).  Although the study did not declare this was in fact the case, many anti-genetic genealogy sources have used the study’s suggestion (and companies’ use of the suggestion) to criticize genetic ancestry testing.

Are You a Descendant of Gwilym?

The article notes that you, too, can be tested for the smooth-talking gene:

News of these findings have prompted many to undergo testing to determine if they too might be descended from this celebrated medieval Lothario. Reginald Sperino, a 36-year-old Henderson, NV waterbed salesman who tested positive for the sequence, said he is proud to come from such a noble line of sweet-talkers.  “I always thought there was something special about me,” Sperino said. “I mean, what can I—hey, there, beautiful—what can I say? It’s nice to finally have an explanation for my je ne sais quoi.”

Note: to avoid any confusion, for those unfamiliar with the Onion please recognize that this is for ENTERTAINMENT purposes only.  It is not a real study!

Posted via web from Blaine Bettinger’s Lifestream

From the introductory post:

“…Robinson, Bradshaw & Hinson proudly announces the launch of the Genomics Law Report.  The Genomics Law Report focuses on the legal implications of important developments in the fields of genomics and personalized medicine — including key litigation, legislative, regulatory and policymaking activities — in order to facilitate understanding of the complicated and shifting legal landscape governing genomic and personalized medicine commerce and research.”