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.Â Although this might seem to be beyond the reach of current genetic ancestry testing, it has actually already begun.Â 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.Â For example, in 2008 scientists … Click to read more!
In the past week there have been so many articles and posts about either genetic genealogy or DTC genetics that Iâ€™m writing them up as a summary post rather than individually.
The New York Times Tackles DTC Genetic Testing
An article in yesterdayâ€™s New York Times by Jane E. Brody â€“ â€œBuyer Beware of Home DNA Testsâ€ â€“ 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: â€œSeven Reasons Why Home DNA Tests Are Hypeâ€).Â The author even lumps in genetic genealogy (which has been around for over 9 years now, hardly a â€œnew industryâ€ that has sprung up â€œto cash inâ€ on new science):
â€œAs 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).Â 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.â€
Oh no, people might be â€œappalledâ€ to discover their ancestors!Â I can assure you that people were â€œappalled to … Click to read more!
Another great article from the Genomics Law Report (if you arenâ€™t already reading this new blog, you should be) – â€œIs the ACCPâ€™s Call for Greater Governmental Regulation of DTC Genetics Premature?â€
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).Â The Genomics Law Report analyzes the paperâ€™s arguments and concludes with the following:
â€œWithout 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.â€
If youâ€™re interested in this area, click over to the Genomics Law Report and read this article (as well as the original ACCP … Click to read more!
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 â€“ this change ONLY represents a change in how results are REPORTED.Â Even though companies report results differently, this does not mean that the actual DNA testing results are wrong or different!Â This shift is NOT to correct errors in testing results; it is only to standardize reporting.
From the Press Release:
SALT LAKE CITY (Aug. 17, 2009)-The Sorenson Molecular … Click to read more!
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.Â After receiving the results which showed European origin (Haplogroup R1b), the results sat in the database for 18 months before a match was found.Â 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.Â From the article:
Thomas [Baff, the individual that Haley tried to contact] turned out to be June Baff Black, Thomasâ€™s daughter, who responded (she was thrilled!). Juneâ€™s parents had researched the family back in the 1980s; Juneâ€™s own involvement had started while watching an episode of Who Do You Think You Are? Sheâ€™d been fascinated by Colin Jacksonâ€™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.
This is just one example of the successes that the popular WDYTYA series has prompted.Â Iâ€™ve heard a number of other stories about people gaining an appreciation for and interest … Click to read more!
In March I announced the unofficial launch of Pathway Genomics, a new company offering genome SNP tests (Note: I am a consultant for Pathway Genomics).Â Today the company officially launched, and their press release is below.Â There is also an article at Bio-IT World (â€œPathway Genomics Joins the Direct-to-Consumer Genomics Paradeâ€).
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, 2009â€”Pathway Genomics, a privately held, ventureâ€backed company, today announced its launch, including the companyâ€™s web site, www.pathway.com. Pathway Genomics offers affordable genetic tests for under $250, enabling consumers to confidentially learn … Click to read more!
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.”Â This blog will undoubtedly be a must for anyone interested in personal genetics.Â Daniel MacArthur at Genetic Future has already provided a brief summary.
From the introductory … Click to read more!
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.”
According to the article, the technology is “based on extremophile biology in which organisms are able to survive long-term in a state of anhydrobiosis (life without water) and later be revived by rehydration.”Â It works by “forming a thermostable barrier during the drying process to protect samples from degradation during storage at room temperature.”
Truly amazing stuff, and what a cost savings!
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.Â 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.