Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations

Background: Uptake of genetic testing remains low, even in families with known BRCA1 and BRCA2 ( BRCA1/2) mutations, despite effective interventions to reduce risk. We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing. Methods: Relatives of BRCA1/2-positive individuals were offered cost-free and confidential genetic counseling and testing. If positive for a BRCA1/2 mutation, participants were eligible to complete a survey about their disclosure of mutation status and the subsequent uptake of genetic testing by at-risk family members. Results: One hundred and fifteen of 142 eligible individuals responded to the survey ( 81%). Eighty-eight ( 77%) of those surveyed disclosed results to all at-risk relatives. Disclosure to first- degree relatives ( FDRs) was higher than to second-degree relatives ( SDRs) and third-degree relatives ( TDR) ( 95% vs. 78%; p < 0.01). Disclosure rates to male versus female relatives were similar, but reported completion of genetic testing was higher among female versus male FDRs ( 73% vs. 49%; p < 0.01) and SDRs ( 68% vs. 43%; p < 0.01), and among members of maternal versus paternal lineages ( 63% vs. 0%; p < 0.01). Men were more likely than women to express general difficulty discussing positive BCRA1/2 results with at-risk family members ( 90% vs. 70%; p = 0.03), while women reported more emotional distress associated with disclosure than men ( 48% vs. 13%; p < 0.01). Discussion: We report a very high rate of disclosure of genetic testing information to at-risk relatives. However, uptake of genetic testing among at-risk individuals was low despite cost-free testing services, particularly in men, SDRs, and members of paternal lineages. The complete lack of testing among paternally related at-risk individuals and the lower testing uptake among men signify a significant barrier to testing and a challenge for genetic counselors and physicians working with high-risk groups. Further research is necessary to ensure that family members understand their risk and the potential benefits of genetic counseling.