ELSIcon2022 • Paper • May 27, 2022
Stephanie M. Fullerton, David R. Crosslin, Gail P. Jarvik, Susan Trinidad
Polygenic risk scores (PRS) use dozens to millions of genotypes, each usually having a small effect, to estimate a patient’s liability to develop a particular disease. Whether and how providers take up this new tool will play an important role in the ability of PRS to improve human health.As part of the eMERGE Network, we are conducting semi-structured interviews with clinical leaders (N=15) and primary care providers (N=20) to elicit their views about implementing PRS in clinical care. Domains include how participants view PRS information in relation to other risk-relevant information; how PRS results should be reported to providers and shared with patients; how PRS might be used in patient care; and the decision-support and educational needs of providers and patients. We are also exploring how primary care providers make sense of PRS in light of relevant clinical, behavioral, and environmental factors, as well as their perceptions and beliefs regarding the use of PRS in ancestry groups that have been underrepresented in genetic research to date.
Preliminary analysis suggests that clinical leaders are hopeful and, in some cases, optimistic about the utility of PRS in motivating patient behavior change. They also have questions about the precision of risk estimates, how patients might respond to such information, and whether providers (of any specialty) will have the information and support they need to interpret results and explain them to patients. Interviews with primary care providers, which are still in progress, are expected to provide complementary findings relevant to local implementation efforts.