Patient Engagement With Clinicians and Family Members About Genetic Test Results Across Risk Groups in Women With...

To examine patient report of engagement with clinicians and relatives about their germline genetic test results across risk groups in women diagnosed with cancer.

We surveyed women age 20-79 years diagnosed with breast, ovarian, or uterine cancer in 2018-19 in Georgia or California, in whom a germline genetic testing yielded a pathogenic variant (PV) in a breast, ovarian, or uterine cancer susceptibility gene (grouped by high v moderate risk) or a variant of unknown significance (VUS) about 4 years after diagnosis (N = 1,767, 52.4% response rate).

Most patients with PVs (84.5%) had a genetic counseling visit to discuss test results, and a majority (70.6%) were encouraged to share results with relatives with no difference across PV risk groups. Half of the patients with PV reported that a genetic counselor gave them advice about how to talk to relatives and one third reported that a counselor talked directly with a relative. Physician engagement with patients about family communication of test results was low: one third of patients with high-risk PV reported that their oncologist encouraged them to share results with relatives. Patients with PV shared test results with 80% of first-degree relatives and one third of second-degree relatives. Compared with patients with PVs, those with VUS had less engagement with clinicians about sharing test results with relatives; were less likely to believe that they had a responsibility to share results with family; and were less likely to share results with relatives.

Patients with PVs share results with many family members but clinician support is insufficient, especially among cancer doctors. A substantial proportion of patients with VUS-only engage relatives about results but more research is needed about the nature of the discussions regarding these indeterminate findings.