While at a doctor’s appointment, you’re asked if you’d like to participate in a genetic research study, which will involve researchers sequencing your DNA. If you say yes, researchers may look for genetic variants associated with preventable genetic diseases that generally appear in adulthood, such as hereditary breast and ovarian cancer (Angelina Jolie was at risk of this) or sudden cardiac arrest. Your odds of having one of these variants aren’t all that high. Approximately 2% of people have an actionable variant in their genome, but only very few are aware of this risk. If your genome is one of those, you probably want to know, and you certainly should be able to know. But generally, you can’t.
A host of practical issues make it nearly impossible for most researchers to give you your information in an ethical and regulatory-compliant manner. This is a real problem. But a consensus is growing among researchers and bioethicists that actionable genetic findings discovered during the course of such research should be returned to the research participants. A full 95% of researchers want to return such findings to participants.
The issue is urgent, because many medical centers have recently initiated large-scale genomic research projects, and there are several nation-level genomic research initiatives underway, including the Precision Medicine Initiative (PMI) in the U.S. Often these programs enroll participants during clinic visits.
The problem arises because of the legal and practical difference between clinical diagnostic testing and testing for medical research. Research labs that do genetic analysis work under far fewer restrictions than do clinical labs for such things as how they handle patient samples, guardianship of information, and manage facility and data security. As a matter of federal regulation, test results discovered in research labs cannot be used for clinical purposes. And it’s very rare for research facilities to have access to accredited geneticists to interpret results or genetic counselors to provide the pre-test consent and counseling and post-test counseling that is necessary for participants discovered to have actionable genomic findings.
In 2016, partially in response to a PMI directive that results be returned to participants, a group of National Institutes of Health (NIH) researchers published a paper highlighting the barriers to doing so and articulating a solution (Darnell AJ, et al). They proposed a centralized service to standardize how genetic findings could be returned to research participants. This service would study research data to help identify any clinically-actionable findings, and confirm the findings by resampling participants and analyzing samples in a CLIA-certified, clinical-grade lab. Ideally, this service would also provide genetic counseling for participants after they’re presented with their results to provide context and help individuals determine next steps.
Color is a health technology company committed to responsible, compliant access to preventive health information for our clients. We have built a robust, user-friendly, and physician-ordered preventive genetic testing experience which can be used for diagnostic testing as well as the return of research results to participants. Earlier this year at the American College of Medical Genetics and Genomics annual meeting, we announced Color for Research, whose end-to-end sequencing service option is, to our knowledge, the first economically-feasible solution for returning results to research participants that addresses the barriers outlined by Darnell, et al.
Whether discovered in a research or clinical setting, information unearthed through genetic testing can have an enormous impact on people’s lives. Fortunately, researchers now have the ability to inform study participants and their healthcare providers when genetic findings indicate a significant issue. When you opt into a genomic research project, you aren’t just helping researchers better understand the genetic basis of disease and health; you could also learn something that keeps you from developing a preventable disease.
Jill Hagenkord is chief medical officer at Color and a board-certified pathologist with subspecialty boards in Molecular Genetic Pathology with a focus on genomic and precision medicine.