BETHESDA, MD – May 13, 2024 – Genetic ancestry
testing is a practice that has become increasingly popular in the
U.S. over the past few years. An estimated half-million Americans
will purchase genetic ancestry tests from one of the approximately
40 companies worldwide that currently provide this type of service
to consumers. However, increasing public interest in
Direct-to-Consumer (DTC) genetic ancestry testing has been
accompanied by growing concern about the personal and societal
implications of this type of testing, and issues related to the
scientific validity of ancestry inference methods.
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. However, ancestry is often imprecisely defined and
identified, and researchers are lacking a standard set of
guidelines for best practices.
There has been a recent proliferation of companies that provide
genetic ancestry testing and an increasing number of individuals
who are interested in using these tests to confirm or extend their
knowledge of family genealogy. However, genetic ancestry tests
remain unregulated with no oversight, nor industry guidelines to
ensure the quality, validity, 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 addressed.
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
(health-related) and genetic ancestry testing.
In an effort to address issues specifically related to genetic
ancestry testing, ASHG established an Ancestry Testing Task Force
Committee that was composed of some of the world'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. [NOTE: The 2008 ASHG Ancestry Testing Statement and
press release are available on the Society's Web site.]
In responding to the stated needs put forth in the 2008 Ancestry
Testing Statement, the ASHG Task Force is publishing a
comprehensive White Paper in the May 14, 2024 issue of The
American Journal of Human Genetics (AJHG). This report –
titled, "Inferring Genetic Ancestry: Opportunities, Challenges, and
Implications" – provides a more in-depth analysis of key
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.
"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," said Charmaine
Royal, Ph.D., lead author on the AJHG White Paper and co-chair of
the ASHG Ancestry Testing Task Force Committee.
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 major issues of concern and brainstorm
practical solutions. Some of the key points 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 and potential
consequences, and public and personal education about these
issues.
"ASHG has agreed to take on a leadership role in response to the
recommendations made in the Task Force's White Paper report," said
Joann Boughman, Ph.D., Executive Vice President of ASHG. "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," said Boughman. "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."
SOURCE