Underrepresentation of certain groups in genetic testing is a well-documented problem. Because these tests are based on research and datasets gathered mostly from people of European ancestry, they may not provide what researchers term “clinically useful results” for people of other backgrounds. A recently published commentary looking at two initiatives to help meet the needs of two such underrepresented groups could help provide some solutions to the underrepresentation problem in genomic datasets, the authors say.
Current methods for genetic testing result in vast amounts of data dealing with genetic variation among those being tested, the researchers say. But, because of the lack of data on certain ethnic groups, it’s uncertain if these variants are harmless or could mean an increased risk of disease, hence the term used to describe them, “variants of uncertain significance” (VUSs), the researchers write in the commentary, published June 2 in the American Journal of Human Genetics. They add that VUSs are more commonly found in groups underrepresented in genetic databases.
However, two initiatives to recruit people from certain underrepresented groups to address this lack of data—one involving Canadian Indigenous populations and one involving the Sephardi Jewish community in New York—could provide a model for solving the challenges involved in addressing underrepresentation more broadly. Many similar initiatives have struggled to succeed, the researchers note, due to a number of factors, including lack of diversity among medical and research professionals and lack of trust of the medical and research communities among underrepresented groups.
Based on the two initiatives they looked at, researchers proposed the following key solutions to ensure success, while noting there is no one-size-fits all solution and some changes may be needed based on the group being studied and their unique concerns:
- Use of targeted recruitment to ensure proper representation
- Ensure strong community engagement and collaboration
- Understand the concerns of the community
- Involve key community members in the oversight and design of the project, which will involve some basic training in genetics
- Ongoing governance of the project
- Ensure appropriate measures to control how data are used, what information is included, and who has access, in order to allay fears of misuse and be accountable to the community being studied
While such underrepresented groups vary considerably, following the key lessons learned from these two initiatives could help solve underrepresentation of other groups in genomic databases and make genetic testing relevant for everyone, the researchers state.