ANTICIPATED UPTAKE AND IMPACT OF GENETIC TESTING IN HEREDITARY BREASTAND OVARIAN-CANCER FAMILIES

In anticipation of the identification of the BRCA1 gene, we studied th e interest in and anticipated reaction to DNA testing for mutations in this gene in members of high-risk families. We surveyed 91 female and 49 male subjects using a structured interview by study nurses. All su bjects were members of inherited breast-ovarian cancer families partic ipating in a genetic linkage study at the National Cancer Institute. T he main outcomes of the study were interest in genetic testing and ant icipated impact of test results. Seventy nine % of subjects indicated that they would ''definitely'' want to be tested, and 16% would ''prob ably'' want to be tested for mutations in the BRCA1 gene. Subjects wit h a high self-perceived risk of having an altered BRCA1 gene were more likely to definitely want testing (P = 0.02), while estimated true ge netic risk did not predict interest in the test. Females were signific antly more likely to definitely want testing (P = 0.005) and had a sig nificantly greater mean anticipated negative-impact score (2.3) compar ed to males (1.0) (P < 0.001). We found a high level of interest in ge netic testing for BRCA1 among members of inherited breast-ovarian canc er families participating in a genetic linkage study. While utilizatio n may fall below levels of interest reported in this and other prelimi nary surveys, given the potential for early detection and treatment of breast and ovarian cancer, interest in BRCA1 testing may translate in to high rates of uptake. These results indicate that it will be critic al to incorporate follow-up counseling and support into BRCA1 testing programs.