“Country hick,” my patient’s partner responded when I asked his genetic ancestry. I had worked with multiple military families, so I was used to the common response of “American,” and familiar with patients questioning why I asked about ethnicity—but this new answer shocked me into silence. I had always thought this information was important to identify couples at higher risk, but his comment made me wonder: why was I even asking for this information? Did it really matter? Who uses this information, and how is it used? The silence made me pause and realize that the use and collection of race/ethnicity/ancestry (REA) information in genomic medicine is a minefield. The more I learn, the more questions I have.
Many of you have asked related questions. Are polygenic risk scores that use REA still valid if we use self-identified ancestry? Can collecting REA help identify diversity gaps in our reference databases? Does the REA information listed in the electronic medical record influence providers to treat specific patients differently? Why are some states requiring the collection of this information? These and countless other questions deserve our consideration if we hope to provide services to our patients in a just, equitable way. A pre-conference symposium is planned for the NSGC Annual Education Conference (AEC) in November to address these issues.
Please consider registering for the interactive pre-conference symposium sponsored by the Lab/Industry SIG, titled: “REAssessing the use of Race, Ethnicity, Ancestry (REA) Information in Genomic Medicine.” This session builds on the information presented during the 2021 NSGC AEC plenary session, titled “The Devil is in the Details: Race-Based Medicine in Genetic Counseling.” Alice Popejoy, a postdoctoral scholar who studies biomedical data sciences, will join representatives from several laboratories to present the history of REA use and why we need to think more critically about this topic.
Varied case examples will be presented to highlight the utility (or lack thereof) of collecting REA information for different types of genetic testing. Perspectives from both clinical and laboratory practice regarding REA use will be presented. Participants will have multiple opportunities for interaction, and space to share their experiences and concerns. There will be time for questions regarding the use of REA information in carrier screening, as well as in diagnostic and pharmacogenomic testing. Additionally, participants will analyze how REA information pertains to reports and requisitions and critically evaluate the necessity of its use in various scenarios. The relationship of this information to billing and reimbursement will also be addressed. Finally, participants will consider case examples to evaluate their personal beliefs regarding REA and discuss with other attendees.
The pre-conference symposium, taking place on Wednesday, November 16 from 12:00 p.m. - 5:00 p.m. at the NSGC 41st Annual Conference, will close with a dialogue about upcoming REA initiatives. Our hope is for ideas generated from this session to be brought to your organizations to help address the challenges surrounding REA collection and utilization, thus enabling your organization and its genetic counseling team to become advocates for equitable use. We have much to share, and we look forward to your questions and contributions to the conversation. Please come join us!
The authors also wish to note that this article was the result of the efforts from many of the Lab/Industry SIG J.E.D.I. subcommittee. A huge thank you for all the input!
Michelle Moore, MS, CGC is a senior laboratory genetic counselor at Sanford Imagenetics with experience in multiple areas of genetic counseling in both the United States and the United Kingdom. She has a special interest in J.E.D.I initiatives, including collaborating co-authorship and co-chair of related SIG subcommittees.
Michelle Garcia, MS, CGC is a 2006 graduate of Sarah Lawrence College who has loved genetics since high school biology. She recently discovered her love of the J.E.D.I. arena and hopes to bring both in balance.