Factors influencing patient discussion of genetic test results with health care providers: Insights from a...

Genetic screening in general populations completed outside of direct clinical care is increasingly frequent; however, it is unclear whether the results are then being discussed with providers to determine implications for care plans.

Participants in the population-level Genomic Medicine for Everyone genome sequencing study were surveyed 12 months after receiving their genetic results to determine whether they discussed the results with their provider and measure other health care experiences. The analysis explored the impact of demographic and socioeconomic factors, genetic results and self/family history, clinical connection (past-year checkup or clinic-based recruitment to Genomic Medicine for Everyone), and other patient experiences and motivations.

Only 21% of participants discussed genetic results with their provider. Having a pathogenic variant increased the likelihood of discussing results with a provider (incidence rate ratio [IRR]: 2.63, P < .001) as did having an actionable pharmacogenetic finding (IRR: 1.45, P < .05). Having had a past-year checkup increased the likelihood of discussing results with a provider (IRR: 2.82, P = .005); however, the rates remained low (23%). Black and Asian participants reported lower discussion rates similar to participants with lower education. Other experiences, such as health anxiety or self-efficacy, were not associated.

Most individuals are not discussing their genetic results with their health care provider, which may limit the clinical benefits of their findings.