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ASHG Says that Ancestral DNA Tests Need Review

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – Because of the increasing availability of genetic testing to consumers and the elusive and confusing nature of human and individual ancestry, extra efforts are needed to begin developing guidelines for how consumer ancestry tests are used and interpreted, according to a new American Society of Human Genetics report.

A white paper released today by ASHG's Ancestry and Ancestry Testing Task Force that reviewed the current state of the science and of the types of companies that offer direct-to-consumer genomic testing explained its general concerns and offered two central recommendations.

The concept of ancestry is subject to misunderstanding in both the general and scientific communities, according to the task force.

"Ancestry estimation has enormous value in human genetics research when used to reveal patterns of past human migration and to provide a background for emerging patterns of human genetic variation," ASHG said in a statement accompanying the report. "However, ancestry is often imprecisely defined and identified, and researchers are lacking a standard set of guidelines for best practices."

The task force identified 38 companies that are currently offering direct-to-consumer genetic ancestry testing, among them DeCodeMe, DNADirect, 23andMe, GeneTree, and Family Tree DNA. All of these ancestral testing services currently have no oversight, they are unregulated, and they do not have any industry guidelines, the task force pointed out.

For academic research applications, the group advised that leaders in the human genetics community should develop mechanisms for promoting "thoughtful and rigorous" use of genetic ancestry.

The ASHG-commissioned group also advised that interested scientific and scholarly societies should collaborate to convene a national roundtable discussion of direct-to-consumer genetic ancestry testing.

The report also calls on those in academia who are using genetic ancestry estimation in their research to identify criteria for appropriately selecting their methods.

They also should establish standards for the representation of statistical confidence in ancestry interference results, create guidelines for terminology and assessment of methodology in peer-reviewed proposals and publications, and develop strategies for translating ancestry data to the general public, the report advises.

The ASHG task force also advises the formation of a "national roundtable discussion of DTC genetic ancestry testing."

"The goal of this face-to-face conversation among ancestry-testing companies and promoters, consumers, and community leaders, advocacy and interest groups, geneticists, social and behavioral scientists, humanists, healthcare providers, legal professionals, federal agencies, media, and other key stakeholders should be to identify major issues of concern and brainstorm practical solutions," the task force report advised.

The task force identified several issues and areas that need to be considered including the reporting of statistical confidence, proprietary databases, additional research, communication of limitations and potential consequences, public and personal education, interdisciplinary collaboration, and mechanisms for accountability.

"It is our hope that engaging these groups in an inclusive and productive dialogue will move us closer to identifying and addressing the major issues of concern in genetic ancestry inference," ASHG's Executive VP Joann Boughman said in a statement.

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