By Ellen W. Clayton
You recently responded to a TV advertisement by a direct to consumer (DTC) genetic testing company because you wanted to find more of your relatives. The company also offered to send you your genomic data. Although not what you originally had in mind, you decided to send the data to another DTC company for interpretation to learn more about your health. Unfortunately, you were told that you are at risk for a condition you had never heard of. Even though the company sent some educational information, you quickly decided to call your doctor for more information and to start prevention or treatment.
People can get a growing number of health-related genetic test results outside the clinical setting. Some direct to consumer (DTC) companies like 23andMe provide a limited number of such results directly to the individual.
The FDA recently made it easier for these companies to expand the health-related tests they provide. Millions of people have sought other genetic testing from DTC companies, often to learn more about their ancestry. In the process, these companies offer to return a large amount of genetic data about the consumer, who can then submit them to DTC companies like Promethease for interpretation.
In addition, researchers increasingly are providing research participants with health-related genetic test results. The All of Us program, which seeks to enroll more than 1,000,000 Americans, plans to provide participants with a variety of genetic test results.
A committee of the National Academy of Medicine recently proposed an “approach to returning individual research results [that were the focus of the research] that considers the value to the participant, the risks and feasibility of return, and the quality of the research laboratory.”
Many commentators urge that investigators should return dozens or more incidental or secondary findings, those that were not related to the original reason for research. Although some research teams provide genetic counseling, few assume full responsibility for care.
Will your doctor be happy to deal with these results, which neither she nor any of your other health care providers ordered and which came from outside the clinical setting?
A recent study conducted at four academic centers that were planning to return research results to participants interviewed 25 physicians about what they thought about addressing such “unsolicited genomic results.”
Many of these clinicians had concerns.
They wanted to be sure that they had access to evidence-based clinical practice guidelines for care, preferably with decision support. They worried that addressing the results would interrupt their workflow, using their already limited time for work that would not be compensated. And some wondered whether dealing with these results should actually be the responsibility of the research project. Nonetheless, many clinicians said that they would help their patients because they saw this as part of their ethical obligations.
So don’t be surprised if your doctor does not welcome you with open arms when you seek help for your DTC or research genomic results.