Date of Award
Open Access Thesis
Deanna Alexis Carere
Recently the FDA authorized one direct-to-consumer genetic testing (DTC-GT) company to begin reporting certain genetic variants in the BRCA1 and BRCA2 genes. Pathogenic variants in these genes confer lifetime risks for breast and ovarian cancer in women as high as 87% and 62%, respectively. Historically, genetic testing for these mutations has been offered in a clinical setting where genetic counseling is part of the testing process. Genetic counseling is not routinely a part of DTC-GT, raising concern that those undergoing DTC-GT for BRCA1/2 mutations may not fully understand what is being tested, the implications of results, or that they may experience psychological distress from receiving an unexpected result. The goal of our study was to assess how BRCA1/2 mutation carriers who went through clinical genetic testing feel about DTC-GT for BRCA1/2 mutations. Results indicate that most respondents are in favor of DTC-GT for BRCA1/2 mutations being available, as it increases access to this empowering information. However, most participants also had concerns about DTC-GT, with most worried about false negatives and lack of counseling/support for mutation-positive consumers. Additionally, respondents would be more likely to choose DTC-GT in a scenario where clinical testing is difficult to access or when they had negative perceptions of certain aspects of their own genetic testing experience. These findings suggest that an enhanced DTC-GT model which incorporates pre- and/or post-test counseling by a certified genetic counselor could be a viable option that would have support from the BRCA-mutation carrier population.
Mitchell, C. E.(2019). BRCA1 and BRCA2 Mutation Carrier Perspectives on Direct-To- Consumer Genetic Testing for Brca Mutations. (Master's thesis). Retrieved from https://scholarcommons.sc.edu/etd/5323