An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank

While research participants report interest in receiving genetic research results, how best to return results to ensure medical benefits remains unclear. In the Penn Medicine Biobank Return of Results Study, participants receive results through a digital intervention or a genetic counselor and are recommended to complete clinical confirmation testing and a visit in clinical genetics. We reviewed EHR encounters to understand longitudinal clinical outcomes in 16 patients who completed all steps (Group A), 8 patients who did not complete the clinical genetics visit (Group B), and 21 patients who did not complete confirmation testing or the clinical genetics visit (Group C). Most participants in Group A (69 %) had evidence of adherence to medical recommendations. Some patients faced usual barriers to care and related to comorbid conditions. In contrast, most participants in Group B (75 %) did not have evidence of discussing their confirmed result with a provider or adherence to medical recommendations. Most participants in Group C (71 %) did not have evidence of discussing their research results with providers, although one discussed their unconfirmed result. Men were less likely to complete all steps (Group A), and participants with cardiovascular results were less likely to complete the medical visit (Group B). There was no documentation regarding testing in relatives in any non-genetics encounters for any groups. These data suggest that the steps following return of research results may be critical to realizing the medical benefits of returning actionable genetic research results and highlight the importance of collecting systematic longitudinal outcomes. CLINICAL TRIAL REGISTRATION: NCT04242667.