Over the past few years genetic ancestry testing has become increasingly popular in the United States and some other countries. It is estimated that approximately half-a-million Americans will buy a genetic ancestry test this year, from one of about 40 companies globally.

However, there is growing concern about the personal and societal implications of Direct-to-Consumer (DTC) genetic ancestry testing, as well as issues related to the validity of ancestry inference methods.

In human genetics research,ancestry estimation has enormous value, especially when utilized to reveal patterns of human migration, and to provide a background for emerging patterns of human genetic variation. However, ancestry is often vaguely defined and identified, and researchers do not have a standard set of guidelines for best practices.

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The number of ancestry test providers as well as individuals interested in using them has grown rapidly over the last few years.

Ancestry testing remains unregulated with no supervision; there are no industry guidelines to help guarantee the validity, quality, and interpretation of these tests. Concerns regarding the accuracy of genetic ancestry inference and the opportunity for harm associated with misinterpretation of genetic ancestry data must be tackled.

Scholars and scientists have urged the genetics community to address these issues and take on a leadership role in offering guidance for DTC genetic ancestry testing and to provide standards for testing. The American Society of Human Genetics (ASHG) considers issues related to the scientific accuracy and direct-to-consumer marketing of genetic tests to be a priority area, as demonstrated by their statements on DTC genetic testing (healthrelated) and genetic ancestry testing.

ASHG set up an Ancestry Testing Task Force Committee, composed of some of the planet’s top scholars in this research area. In November 2008, the Task Force Committee provided the ASHG Ancestry Testing Summary Statement and Recommendations at the Society’s 58th Annual Meeting in Philadelphia.

In responding to the stated needs set forth in the 2008 Ancestry Testing Statement, the ASHG Task Force has published a comprehensive White Paper in The American Journal of Human Genetics (AJHG), May 14, 2010 issue. This report – titled, “Inferring Genetic Ancestry: Opportunities, Challenges, and Implications” – provides a more in-depth analysis of the main scientific and non-scientific aspects of genetic ancestry inference that are prevalent in academia and industry. The report also offers recommendations for advancing the current debate and facilitating the development of scientifically based, ethically sound, and socially attentive guidelines concerning the use of these continually evolving technologies.

Charmaine Royal, Ph.D., lead author on the AJHG White Paper and co-chair of the ASHG Ancestry Testing Task Force Committee, said:

This report not only expands upon the Task Force’s 2008 summary of the benefits, limitations, and potential outcomes of genetic ancestry estimation in research and industry, but it also suggests specific action items for helping to accomplish the ideals put forward in the ASHG ancestry testing statement.

In their 2008 statement, the Task Force stated that the ASHG views academia, industry, and consumers as sharing responsibility for conveying and understanding the limitations of genetic ancestry testing. The ASHG Task Force also stressed the importance of engaging the scientific community and industry, to ensure that these parties fully inform consumers about the limitations, risks, and benefits involved in genetic ancestry testing.

Based on their review of the current state of the science and the personal, societal, and health-related implications of genetic ancestry inference in academia and industry, the ASHG Ancestry Testing Task Force has made the following recommendations in their report published in AJHG:

  • Leaders of the human genetics community should develop mechanisms for promoting thoughtful and rigorous use of genetic ancestry estimation in academic research.
  • Interested scientific and scholarly societies should collaborate to convene a national roundtable discussion of DTC genetic ancestry testing.

According to the ASHG Task Force’s White Paper report, effective decision-making regarding genetic ancestry inference – and DTC genetic ancestry testing in particular – will be best initiated through cooperative interaction among a variety of stakeholders, including scientific societies, industry, and suitable federal agencies.

The goal of coordinating a face-to-face discussion among these groups would be to identify key matters of concern and put forward practical solutions. Some of the main issues that must be considered by participants in this discussion include:

  • Scientific accuracy and the reporting of statistical confidence
  • Proprietary databases
  • Additional research that must be conducted
  • Interdisciplinary collaboration
  • Suggestions and mechanisms for industry accountability
  • Communication of test limitations
  • Potential consequences
  • Public and personal education about these issues

Joann Boughman, Ph.D., Executive Vice President of ASHG, said:

ASHG has agreed to take on a leadership role in response to the recommendations made in the Task Force’s White Paper report. The recommendations included in this White Paper are intended to promote an open and collaborative discussion about the key issues in genetic ancestry inference that are prevalent in academia and industry.

The issues and solutions discussed at a face-to-face meeting of the key stakeholders can inform important decisions about next steps. 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.

“Inferring Genetic Ancestry: Opportunities, Challenges, and Implications”
Charmaine D. Royal, John Novembre, Stephanie M. Fullerton, David B. Goldstein, Jeffrey C. Long, Michael J. Bamshad, Andrew G. Clark
The American Journal of Human Genetics, Volume 86, Issue 5, 661-673, 14 May 2010
doi:10.1016/j.ajhg.2010.03.011

Source: American Society of Human Genetics (ASHG)

Edited by Christian Nordqvist