Gwilym of the Many Conquests and the Smooth-Talking Gene

[PLEASE NOTE:  The Onion is a satirical site meant for ENTERTAINMENT and social commentary purposes only.  The following study is NOT real!]

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” … Click to read more!


“Can DNA tests help your genealogical inquiries?” in the Asheville Citizen-Times

An article appears in today’s Asheville Citizen-Times (here) about genetic genealogy. Although brief, the article summarizes the sciences behind Y-DNA and mtDNA testing, and focuses on the use of genetic genealogy to explore the “Clark” surname.

With the famous Thomas Jefferson-Sally Hemmings case, folks began to realize that DNA testing techniques could give answers and break down brick walls as never before.  While DNA will never replace standard research and primary documentation, it can be considered a tool to be used hand in hand with standard research.

via citizen-times.com and familybuilder
Posted via web from … Click to read more!


A Critique of Genetic Ancestry Testing in Science Magazine

Gold StandardFive bioethicists have published a paper in today’s issue of Science – The Illusive Gold Standard in Genetic Ancestry Testing (paid subscription required) – calling for government regulation of genetic ancestry testing (aka genetic genealogy). There is an accompanying press release: Stanford Bioethicist and Colleagues Call for Federal Regulation of Genetic Ancestry Testing (another press release is available here).

Overall Thoughts

I highly respect the work of these authors, and I appreciate their efforts to educate the public about these issues. I do, however, wonder why the article was published in Science. The article mostly rehashes arguments found in a number of other articles (including from a very similar 2007 Science article (link) with some of the same authors) without adding any new research or supporting evidence. This is my greatest criticism of this and related articles – much of the … Click to read more!


Genome Hacking at The New Scientist

Journalists Peter Aldhous and Michael Reilly write about using DNA obtained from a drinking glass and other sources to “hack” someone’s genome.

In “Special investigation: How my genome was hacked,” the authors use a variety of consumer-available DNA services to prepare and amplify genomic DNA in order to send it away for analysis by deCODEme.  They used deCODEme, it appears, because 23andMe and Navigenics use saliva collection, and “it would be hard to convert [the] amplified DNA sample into a form that closely mimicked saliva.”  They did use 23andMe, however, as a control.  Interestingly, the cost of the entire process was about $1,700 for lab services (preparation and amplification) and $985 for deCODEme’s service.

From the … Click to read more!

Stephen Pinker, The New York Times, and Counsyl

imageAlthough I can hardly hope to introduce or discuss these recent events any better than Daniel MacArthur has already given at Genetic Future, I will at least bring this new information to your attention.

Last Wednesday the New York Times printed “My Genome, My Self”, an article written by Stephen Pinker, one of the Personal Genome Project’s “First 10.”  In the article, Pinker talks about his experience with genome sequencing through the PGP.  It is especially interesting since Pinker analyzes the issue from the point of view of a psychologist.  I highly recommend reading this article if you are at all interested in personalized medicine or genetics.

Much of the article discusses the confusing results that are returned by genome/disease analysis, due to … Click to read more!


Humans Entered the Americas in More Than One Wave

image An international team of researchers have concluded that humans entered the Americas from Asia along at least two different paths.  By studying two rare mtDNA haplogroups found in Native Americans – D4h3 and X2a – the researchers conclude that D4h3 spread into the Americans along the Pacific coast while X2a entered through the ice-free corridor between the Laurentide and Cordilleran ice sheets.

From the Press Release:  “Six major genetic lineages account for 95 percent of Native American mtDNA and are distributed everywhere in the Americas,” said first author Ugo Perego, director of operations at SMGF. “So we chose to analyze two rare genetic groups and eliminate that ‘statistical background noise.’ In this way, we found patterns … Click to read more!


Genetic Genealogy Links for December 12 2008

Positions of the different countries and terri...
Image via Wikipedia

I’m currently in the middle of third-year law school exams, so I thought I’d do a round-up of all the interesting stories I’ve seen over the past week or two.

Holiday Specials on DNA Testing

First, it appears that most of the major genetic genealogy companies are offering special deals for the holidays:

Family Tree DNA announces a holiday sale – FTDNA is offering reducing pricing for customers who are part of or join a DNA project.  For example, a 37-marker Y-DNA test is reduced to $119, down from $149.

Ancestry.com announces holiday sale – buy a DNA test between now and December 31st, and you’ll receive 40% off.  For example, a 33-marker Y-DNA test is $89.40 (usually $149) and their mtDNA test is $107.40 (usually $179).

African Ancestry announces a holiday sale – their MatriClan and PatriClan tests, which are normally $349, are on sale for $275.

Genetree offers a special first birthday sale – I’m not sure if this sale is open to everyone … Click to read more!


New Genetic Genealogy Article at Ancestry Magazine

A new article in Ancestry Magazine, “Meeting My New Family,” details a recent meeting of genetic relatives in Chicago.  The author is Howard Wolinsky, who has written other articles in the field of genetic genealogy (see, for example, an article in EMBO about 2 years ago).  As Howard describes, the meeting wasn’t a traditional family reunion:

“We are a new kind of cousin. Until a few days ago, we were strangers who just happened to have had our DNA analyzed. Then we discovered we matched one another to varying degrees. Most of us have common Jewish connections. And we learned that we come from relatively rare branches of the human DNA tree. Our mothers’ mothers came from the HV branch. Our fathers’ fathers came from the G group.”

The full text of the article is … Click to read more!


The ASHG Ancestry Testing Statement and Recommendations

Edited (June 6, 2011): FINAL version of the paper available here.

Today at 1:15PM, the American Society of Human Genetics released the “ASHG Ancestry Testing Statement and Recommendations (pdf)” during a press briefing session entitled “ASHG Ancestry Testing Statement and Recommendations: Guidelines for Understanding the Issues and Implications Involved.  The briefing session, held from 1:15PM to 2:15PM, is part of the 58th annual ASHG meeting in Philadelphia.  The paper was drafted by the recently-appointed ASHG Ancestry Testing Task Force Committee.

Let me start my analysis by clearly pointing out my personal positions:

  • After years of experience in this field, I am a proponent of genetic genealogy testing, a scientific endeavor that has been utilized by as many as 500,000 to 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.

General Concerns:

With those personal positions in mind, and after reviewing the paper, I have a number of general concerns with the paper’s conclusions:

  • There 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 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 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 SocietyAny 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.
  • There 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.
  • Although 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.

Specific Concerns:

Now, onto a few specific criticisms of the paper:

Limited Scope:

“Many people pursue genetic ancestry testing because they wish to find out more information about either the local populations or broad geographical regions in which their ancestors lived. However, the power of commercial genetic tests to answer such questions is limited, and the precision of the answer is often limited by the imprecision of the question. The limitations arise from the fact that every person has hundreds of ancestors going back even a few centuries and thousands of ancestors in just a millennium. There is thus enormous non-deterministic variation to the portion of the genome retained in a descendant from a given ancestor, with a rough expectation that it halves every generation. Consequently, genetic tests can access only a fraction of these ancestral contributions. The genomic segments contributed by a particular ancestor are far from all being uniquely identifiable, so even if one’s genome has those specific genome contributions, identification of particular ancestry is always uncertain and statistical. It is also unclear how well-inferred ancestry serves to predict the tested individual’s genotypes at untested loci.”

This paragraph largely deals with autosomal … Click to read more!