US - The Illusive Gold Standard in Genetic Ancestry Testing

"The Illusive Gold Standard in Genetic Ancestry Testing" published in the 3 Jul 2009 issue of Science Magazine calls for federal (US) regulation of genetic ancestry DNA testing. The authors are: Sandra Soo-Jin Lee, Deborah Bolnick, Troy Duster, Pilar Ossorio, and Kimberly Tallbear.

Dr. Blaine Bettinger provides an overview and critique on the article in his blog, "The Genetic Genealogist".

The article cites the American Society of Human Genetics' recommendations on ancestry testing but injects opinion as well with statements like, "...the false assumption that contemporary groups are reliable substitutes for ancestral populations..." and "...the lack of transparency regarding the statistical methods that companies use to determine test results".

The authors suggest that federal agencies should set industry standards and be responsible for accountability although they acknowledge that "how these regulations will be put in place is going to be a struggle between various parties that have shown little indication that there will be a compromise that will be acceptable to all."

Two press releases were issued as a result of the article: "Stanford Bioethicist and Colleagues Call for Federal Regulation of Genetic Ancestry Testing" and "Tougher controls sought for DNA ancestry testing" in which the latter cites the now defunct company, AncestrybyDNA.

Deborah Bolnick

31/2007

Deborah Bolnick – Asst. Professor, Department of Anthropology, University of Texas at Austin

Professor Bolnick's name and quotes appear in several published papers and media articles critical of Direct-To-Consumer (DTC) DNA testing. In a 2007 e-mail that was posted with her permission, she states that "Along with some of my co-authors, I would like to write a longer and more thorough article for a popular science magazine in the future, with the hope that that type of article would be more accessible and helpful to test-takers." What is her definition of "helpful"? The latest paper she appears as a co-author on is "The Illusive Gold Standard in Genetic Ancestry Testing" which calls upon several U.S. federal agencies to impose regulations on ancestry DTC testing. Considering that regulations would add layers of bureaucracy to ordering a genetic ancestry test, that would not be what consumers would define as "helpful".
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Excerpt from The Science and Business of Genetic Ancestry Testing Science Magazine 19 Oct 2007

“However, both scientists and consumers should approach genetic ancestry testing with caution because (i) the tests can have a profound impact on individuals and communities, (ii) the assumptions and limitations of these tests make them less informative than many realize, and (iii) commercialization has led to misleading practices that reinforce misconceptions.”

This particular publication has been picked up and cited by several others in academia with similar viewpoints critical of DTC testing. Examples from articles written by others who cite or quote, "The Science and Business of Genetic Ancestry Testing":

“Guilt Beyond a reasonable doubt.” by David Altsuler
- Published in Nature 2007

“Patients may change their medical care if they believe their ancestral underpinnings make them more or less prone to particular genetic diseases, but do not realize that the testing is only probabilistic and may not be accurate.”
- Published in Journal Watch Psychiatry October 29, 2007

"As disease association tests have appeared, another industry has emerged: genomic testing of maternal (mitochondrial) and paternal (Y chromosomal) DNA to learn of geographic ancestry. Such tests, however, provide a snapshot of only a tiny percentage of an individual's genomic complement. Not surprisingly, the accuracy of these genealogic predictions is variable. It is difficult to critically analyze this approach because many of these companies use proprietary databases and differing "filters" for the data. Because ancestry and risk for specific diseases are often intertwined, the policies and professional attention focused on direct-to-consumer genetic testing for disease should also be applied to testing for ancestry.”
- Published in JAMA – Journal of the American Medical Association March 19, 2008

"Policy Considerations - Genetic ancestry testing raises several policy considerations. These include concerns about direct-to-consumer marketing of the tests; reinforcement of scientifically
questionable ideas about the relationship between race and genetics; and privacy of the test results."
- CRS Report for Congress "Genetic Ancestry Testing" March 12, 2008