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:

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Announcing the GET Conference 2010


Daniel Vorhaus of the Genomics Law Report is also a member of the steering committee of the GET (“Genomes, Environments, Traits) Conference 2010.This unique conference, to be held on Tuesday, April 27, 2010 will gather together some of the biggest names in personal genomics, as well as most of the limited number of the people who have released their entire genomes to the public.Tickets for the conference go on sale today here.

As part of the GET Conference 2010, the new BioWeatherMap initiative will officially launch.According to the project’s website, BioWeatherMap is “a global, grassroots, distributed environmental sensing effort aimed at answering some very basic questions about the geographic and temporal distribution patterns of microbial life. Utilizing the power of high-throughput, low cost DNA sequencing and harnessing the drive of an enlightened public we propose a new collaborative research approach aimed at generating a steady stream of environmental samples from many geographic locations to produce high quality data for ongoing discovery and surveillance.”

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The Future of Genetic Genealogy – Tracing DNA To Individual Ancestors

I once told someone that in addition to learning about their ancient origins (such as Y-DNA and mtDNA haplogroups), many genetic genealogists would ideally like to match every portion of their DNA with the contributing ancestor.  Although this might seem to be beyond the reach of current genetic ancestry testing, it has actually already begun.  The family compare function of 23andMe, for example, is already being used by genetic genealogists for just this purpose; people who have matching DNA segments can compare ancestry and attempt to identify the ancestor who might have contributed the DNA.

For obvious reasons, medical geneticists have for many years been using genealogy to trace founder mutations in populations.  For example, in 2008 scientists traced a colon cancer gene in the United States to a Mr. and Mrs. George Fry who arrived in the New World around 1630 (see A Single Colon Cancer Gene Traced to 1630).

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Australian Research Study on Consumer Genomics‏

As part of her doctoral research, Sudeepa Abeysinghe is asking people who have purchased genomic tests to complete the “User Experiences of Direct-to-Consumer Genomic Testing Survey”.  According to Sudeepa, the survey focuses on the consumer experience and is completely independent of any testing company.

Although I’m late on reporting this (it was already covered by GenomeWeb, for example), I thought I would mention it in case anyone has missed the previous coverage and might be interested in completing the survey.

This is an opportunity for genetic genealogists to share their experiences and voice their thoughts regarding DTC genomic testing.


Family Tree DNA Discovers Y-DNA Signature That Might Represent the Prophet Mohammed

DNA An article in the United Arab Emirate newspaper The National (wikipedia) does a terrific job of highlighting recent research from Family Tree DNA.  The story – “DNA could illuminate Islam’s lineage” – discusses research that has attempted to elucidate the Y-DNA signature of Mohammed.  Although Mohammed did not have a son, he had a daughter who married her paternal second cousin, thus passing to Mohammed’s grandchildren the same Y-DNA.  From the article:

“For almost 1,600 years, the title Sharif, Sayyed, or Habib has been bestowed on Muslims who have been able to trace their roots back to the Prophet Mohammed through intricate family trees, oral histories and genealogical records. But now an American DNA lab says it may have identified the DNA signature of descendants of the Prophet Mohammed, and perhaps the prospect of a direct, more accurate means of confirming or identifying such a connection.”

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The Close Cousins DNA Project – A Request for Help


Image by Aaron Logan

Roughly 6 million years ago, the Hominini subtribe of the Hominidae family tree (the so-called “great apes”) diverged into two known branches, with one branch (genus Pan ) resulting in modern-day Chimpanzees and Bonobos, and the other branch (genus Homo) resulting in modern-day humans.

Since there has only been 6 million years of divergent evolution, Chimpanzees/Bonobos and Humans share a great deal of DNA sequence in common (although estimates vary widely and typically depend on what, exactly, is being considered in the comparison).

The Close Cousins DNA Project

On May 31, 2008, the Close Cousins DNA Project was launched by Bill Davenport as a result of a discussion on the Genealogy-DNA mailing list regarding the relatedness of human and chimpanzee Y-DNA.  From the launching post:

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Interviews with 23andMe Customers

Image representing 23andMe as depicted in Crun...

Image via CrunchBase

DAVIDE at the European Genetics and Anthropology Blog recently posted two interviews (here and here) with customers of 23andMe’s large-scale genome scanning service, one from Finland and one from the U.S.

It’s very interesting to see the responses of these anonymous individuals, particularly since they are from different countries.

For example, both were asked why they decided to purchase the 23andMe test – “Was it to test your ancestry or genetic health risk factors?”  Interestingly, for both individuals ancestry was the motivating factor behind testing.  More support for my conclusion that these companies should strongly promote the ancestral aspects of their products.

Other Questions

Here are a few examples of other questions in the interviews:

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80 Percent of Americans Favor Making Genetic Testing MORE Available

iStock_000007659966XSmall The Virginia Commonwealth University Life Science Center has released the results of the VCU Life Sciences Survey and I thought I’d share some of the interesting results.

The most surprising result of the survey is that 80% of surveyed adults favor making genetic testing “easily available to all who want it,” similar to values in 2001 and 2004.  Don’t tell this to the New York and California Departments of Health!

The Benefits Outweigh the Risks

54% of adults believe that the benefits of genetic testing outweigh the risks, while 25% believe that the risks outweigh the benefits.  It’s interesting to see the education breakdown of this question.  44% of people with a high school degree or less believe that benefits outweigh risks, compared to 67% of people with a college degree or more.  And 29% of people with a high school degree or less believe that risks outweigh benefits, compared to 20% of those with a college degree or more.

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A Lecture by Spencer Wells

image Last week I had the opportunity to attend a lecture by Spencer Wells, director of the Genographic Project from National Geographic and IBM.

The talk was a Syracuse Symposium event, and the first big event ever to be held in Syracuse University’s new $110 million Life Sciences Center.  I thought it was fitting that the first event to celebrate the future of the new life sciences building was a lecture that examined the collective genetic journey of mankind.

Dr. Wells began by giving the audience a very brief introduction about DNA and genetic genealogy.  He included a great quote that “The question of origin is actually a question about genealogy.”  For those that are not familiar with the Genographic Project, it was launched in 2005 and includes three primary missions:

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Personal Genome Project Begins Releasing Information

image The Personal Genome Project (PGP) was established to analyze and publicly share the genomes and personal information of up to 100,000 volunteers in order to advance understanding of “genetic and environmental contributions to human traits and to improve our ability to diagnose, treat, and prevent illness.”  In the first phase of the PGP, ten volunteers (the “First 10″ – see information about the First 10 here on my blog and at the PGP website) have had their DNA analyzed and have given their personal information.

Last month, George Church, the PGP’s principal investigator, reported that the project expected to publish data about the First 10 on its website in mid- to late October.  Church might have meant genotype (i.e. sequencing) information, since some information about phenotype, health history, and medication has already been posted on the PGP website.  There is information about each of the 10 participants, although there is currently no active link to their genetic information:

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