Patient-reported actions following receipt of pathogenic hereditary cancer genetic test results: results from a population-based screening study in primary care

Genetic testing for hereditary cancer risk can improve health outcomes for individuals and their family members. Although the use of multiplex gene panels for cancer risk is expanding in the primary care setting, little is known about patient actions following such testing. We examine participant-reported actions around clinical follow-up and discuss cascade testing with family members after a pathogenic variant (PV) is identified. Thirty-two semi-structured interviews were conducted with primary care patients who had a PV identified through the EDGE (Early Detection of GEnetic risk) study. Thematic analysis was used to explore participant-reported post-testing actions, followed by subgroup analysis by variant actionability. Patients reported working closely with providers to decide whether to change their cancer-related care and to consider the clinical implications of their test results. Although patients’ reported promotion of cascade testing did not differ by variant actionability, those with actionable variants spoke more often of family members completing cascade testing after they discussed it. Age, sex, cost, and competing priorities influenced the perceived relevance of genetic test results and the urgency of participant-reported post-testing actions. In this primary care sample, the use of multiplex gene panel testing for cancer risk motivated clinical follow-up and the promotion of cascade testing.