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Background.  Inherited  BRCA  gene mutations convey a high risk for breast and ovarian cancer, but current guidelines limit  BRCA  mutation testing to women with early-onset cancer and relatives of mutation-positive cases. Benefits and risks of providing this information directly to consumers are unknown.   Methods.  To assess and quantify emotional and behavioral reactions of consumers to their 23andMe Personal Genome Service ®  report of three  BRCA  mutations that are common in Ashkenazi Jews, we invited all 136  BRCA 1 and  BRCA 2 mutation-positive individuals in the 23andMe customer database who had chosen to view their  BRCA  reports to participate in this IRB-approved study. We also invited 160 mutation-negative customers who were matched for age, sex and ancestry. Semi-structured phone interviews were completed for 32 mutation carriers, 16 women and 16 men, and 31 non-carriers. Questions addressed personal and family history of cancer, decision and timing of viewing the  BRCA  report, recollection of the result, emotional responses, perception of personal cancer risk, information sharing, and actions taken or planned.   Results.  Eleven women and 14 men had received the unexpected result that they are carriers of a  BRCA 1 185delAG or 5382insC, or  BRCA 2 6174delT mutation. None of them reported extreme anxiety and four experienced moderate anxiety that was transitory. Remarkably, five women and six men described their response as neutral. Most carrier women sought medical advice and four underwent risk-reducing procedures after confirmatory mutation testing. Male carriers realized that their test results implied genetic risk for female relatives, and several of them felt considerably burdened by this fact. Sharing mutation information with family members led to screening of at least 30 relatives and identification of 13 additional carriers. Non-carriers did not report inappropriate actions, such as foregoing cancer screening. All but one of the 32 mutation-positive participants appreciated learning their  BRCA  mutation status.   Conclusions.  Direct access to  BRCA  mutation tests, considered a model for high-risk actionable genetic tests of proven clinical utility, provided clear benefits to participants. The unexpected information demonstrated a cascade effect as relatives of newly identified carriers also sought testing and more mutation carriers were identified. Given the absence of evidence for serious emotional distress or inappropriate actions in this subset of mutation-positive customers who agreed to be interviewed for this study, broader screening of Ashkenazi Jewish women for these three BRCA mutations should be considered.

Dealing with the unexpected: consumer responses to direct-accessBRCAmutation testing