Reactions to Direct-to-Consumer BRCA Test Results. U. Francke1, 2, C. Dijamco1, A. K. Kiefer1, N. Eriksson1, J. Y. Tung1, J. L. Mountain1 1) 23andMe Inc, Mountain View, CA; 2) Dept Genetics, Stanford Univ Med Ctr, Stanford, CA.
Direct-to-consumer (DTC) genetic health reports provided online include low-effect disease risk information based on published genome-wide association studies, carrier status for recessive disorders, variants affecting drug response and a few high-impact Mendelian dominant mutations. Concerns expressed in the literature and position statements by medical societies postulate that genetic information should not be provided DTC because consumers will misunderstand it, positive test results will cause panic and inappropriate actions, and negative test results will lead to inappropriate actions such as foregoing cancer screening. To assess these claims, we carried out semi-structured interviews, collecting empirical data on the harms and benefits experienced by consumers in response to the most actionable test with proven clinical utility currently available DTC: for 3 mutations relatively common among women with Ashkenazi Jewish ancestry that predispose to hereditary breast and ovarian cancer (HBOC): BRCA1 185delAG and 5382insC, BRCA2 6174delT. 32 mutation-positive and 31 mutation-negative participants, matched for age, sex and ancestry, were asked about their emotional response to the report, with whom they shared the data, and the actions they have taken or plan to take. 59% of cases and 35% of controls were unaware at the time of purchase that the 23andMe service includes testing for mutations predisposing to HBOC. In each group of 16 males (M) and 16 females (F), 6 carried a BRCA1 and 10 a BRCA2 mutation. 4F had been diagnosed with HBOC, and 5F and 2M had prior knowledge of their mutation status. Of 10F and 14M who learned for the first time that they carried a BRCA mutation, 6F and 4M stated they were completely surprised. No participants recalled their mutation status incorrectly. Asked to rate their emotional response, no cases were extremely upset, 3F/1M were moderately upset, 3F/6M were somewhat upset, 8F/8M were neutral and 1F/1M were relieved. Of 31 controls, 7F/8M felt neutral and 11F/5M relieved. Results were shared most often with family and friends, followed by genetic counselors and primary care physicians who initiated repeat testing and specialist follow-up. Non-carrier controls did not report actions such as foregoing cancer screening. We were struck by the snowball effect within families leading to identification of many additional mutation carriers, and the burden expressed by male carriers realizing the risk for sisters and daughters.
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