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). ... Click to read more!

The World of Genetic Genealogy and DTC Genetic Testing Never Sleeps…

In the past week there have been so many articles and posts about either genetic genealogy or DTC genetics that I’m writing them up as a summary post rather than individually.

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): ... Click to read more!

The Genomics Law Report Addresses the ACCP’s Call for Regulation of DTC Genetic Tests

Another great article from the Genomics Law Report (if you aren’t already reading this new blog, you should be) – “Is the ACCP’s Call for Greater Governmental Regulation of DTC Genetics Premature?”

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.” ... Click to read more!

Sorenson Molecular Genealogy Foundation First to Adopt Genetic Genealogy’s New Industry Standard for Reporting Y-DNA Profiles

Today, the Sorenson Molecular Genealogy Foundation (SMGF) reported that they are adopting a standardized Y-STR reporting system proposed by the National Institute of Standards and Technology (NIST) of the U.S. Dept. of Commerce and supported by the International Society of Genetic Genealogy (ISOGG).

The standardized system was first published in the Fall 2008 issue (pdf) of the Journal of Genetic Genealogy (JoGG).

First, let me add a note of caution – this change ONLY represents a change in how results are REPORTED.  Even though companies report results differently, this does not mean that the actual DNA testing results are wrong or different!  This shift is NOT to correct errors in testing results; it is only to standardize reporting. ... Click to read more!

Using DNA to Explore the Scottish Roots of the Haley Family

Ancestry Magazine has a new article by Megan Smolenyak about the use of Y-DNA testing to examine the origins of the Haley maternal line.

Chris Haley, nephew of Roots author Alex Haley, underwent Y-DNA testing.  After receiving the results which showed European origin (Haplogroup R1b), the results sat in the database for 18 months before a match was found.  Many of us have similar experience; our results are recorded and available but are waiting for the day we find a match.

Haley was lucky, however, and he was soon in contact with the family.  From the article:

Thomas [Baff, the individual that Haley tried to contact] turned out to be June Baff Black, Thomas’s daughter, who responded (she was thrilled!). June’s parents had researched the family back in the 1980s; June’s own involvement had started while watching an episode of Who Do You Think You Are? She’d been fascinated by Colin Jackson’s DNA test, ordered a test for her father, her Y-DNA stand-in, and mailed if off only a few weeks before hearing back from Chris. ... Click to read more!

Pathway Genomics Officially Launches

imageIn March I announced the unofficial launch of Pathway Genomics, a new company offering genome SNP tests (Note: I am a consultant for Pathway Genomics).  Today the company officially launched, and their press release is below.  There is also an article at Bio-IT World (“Pathway Genomics Joins the Direct-to-Consumer Genomics Parade”).

Press Release:

Pathway Genomics Brings Together Renowned Team of Entrepreneurs, Scientists, Physicians, and a Government Certified Lab to Offer Personal Genetics Services

San Diego, Calif., July 15, 2009—Pathway Genomics, a privately held, venture‐backed company, today announced its launch, including the company’s web site, www.pathway.com. Pathway Genomics offers affordable genetic tests for under $250, enabling consumers to confidentially learn about their risk for various diseases, adverse drug responses, carrier status, and ancestral history. Leveraging customized and highly innovative DNA genotyping technologies, Pathway Genomics generates the most extensive analysis of an individual’s risk for disease and can trace the path of a person’s maternal and paternal ancestry back more than 150,000 years. ... Click to read more!

Genomics Law Report – A New Blog

A new blog called the Genomics Law Report went live today, promising to provide “news and analysis from the intersection of genomics, personalized medicine and the law.”  This blog will undoubtedly be a must for anyone interested in personal genetics.  Daniel MacArthur at Genetic Future has already provided a brief summary.

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.” ... Click to read more!

Sorenson Molecular Genealogy Foundation to Protect DNA Samples Using Biomatrica’s Room Temperature Storage

From today’s press release:

Biomatrica today announced that the Sorenson Molecular Genealogy Foundation (SMGF) will use Biomatrica’s SampleMatrix room temperature storage technology to archive its DNA samples.

SMGF will use the SampleMatrix technology in place of ultra-low-temperature freezers for the long-term storage of all newly collected samples. In addition, SMGF will move its collection of previously archived samples from freezers to room temperature storage.

“SMGF has an extremely valuable collection of DNAs, and we have been very concerned about the long-term storage and preservation of the collection,” said Scott Woodward, executive director of the Sorenson Molecular Genealogy Foundation. “Biomatrica has developed a product that we feel addresses our concerns in a very practical, economical and secure way.” ... 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 Blaine Bettinger’s Lifestream

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 hypothesis rests on anecdotal evidence without any corresponding research for support (such as objective social research with genetic ancestry testing customers). ... Click to read more!