Communication of BRCA results and family testing in 1,103 high-risk women

Genetic testing for hereditary cancer risk has implications for individuals and families. This study of women at risk of hereditary breast and ovarian cancer examines communication of BRCA results and subsequent genetic testing in the family.

We surveyed 1,103 female BRCA testers at two hospitals, querying for communication of results and testing in relatives.

Ninety-seven percent of participants communicated BRCA results with at least one relative. Communication was negatively associated with older age [odds ratio (OR), 0.66 per decade; 95% confidence interval, (95% CI), 0.4-0.9], Asian race (OR, 0.18; 95% CI, 0.06-0.5), and testing at the public hospital versus the cancer center (OR, 0.19; 95% CI, 0.07-0.5). Communication was positively associated with increased knowledge of hereditary breast and ovarian cancer screening and risk reduction recommendations (OR, 1.9; 95% CI, 1.1-3.4) and increased satisfaction with the decision to BRCA test (OR, 2.6; 95% CI, 1.6-4.0). Seventy-five percent of BRCA-positive participants reported that at least one relative pursued genetic testing. Family testing was negatively associated with Asian race (OR, 0.15; 95% CI, 0.02-0.8) and positively associated with increased socioeconomic status (OR, 1.4; 95% CI, 1.1-1.7) and increased satisfaction with decision (OR, 2.1; 95% CI, 1.1-4.1).

Despite high overall rates of communicating BRCA results, underserved and some minority women seem less likely to inform relatives of their BRCA status or have relatives test for a known family mutation. Satisfaction with the decision to BRCA test is positively associated with both outcomes.

This study identified several novel predictors of family communication and family genetic testing in a large population of high-risk women. This work can inform clinicians interested in improving family communication regarding cancer predisposition testing.