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Many people pursue direct-to-consumer (DTC) DNA testing to learn about health risks. While DTC testing for breast cancer genes BRCA1 and BRCA2 may provide vital information to those testing positive, it is unclear whether individuals testing negative understand the implications of these results. Furthermore, it is unknown how such findings may influence future cancer risk management. Ninety-six individuals who underwent BRCA testing through the DTC service, 23andMe, completed a survey designed to assess their understanding of a negative result and how this result may impact cancer risk management. Respondents were recruited via social media sources Reddit and Facebook. All participants tested negative for the three BRCA variants analyzed by 23andMe: BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT. Six questions assessed understanding of the limitations of the testing. Results indicated that 77.1% of respondents answered five or more questions correctly, confirming participants adequately understood testing limitations. While 92% of participants reported their results would not alter the frequency of their cancer screenings, analysis of variance indicated that lower understanding of testing limitations was associated with less clarity about how to proceed with cancer risk management, F (2, 93) = 5.98, p < .05. Analyses were conducted to identify factors contributing to overall understanding scores. Significant correlates of understanding were age and education level. Participants’ perceived risk played a role in both their understanding and future cancer screening behavior. This observation necessitates further study.

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BRCA testing, direct-to-consumer


Medicine and Health Sciences | Oncology

Understanding and Impact of Negative Direct-to-Consumer BRCA Test Results: A Pilot Study

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