Addressing Breast Cancer Risk for Women in Families with Indeterminate Negative BRCA1 and BRCA2 Genetic Test Results

The purpose of this research was to describe calculated risk, risk perceptions of future breast cancer, and accuracy of risk perceptions of relatives (sisters or daughters) of women who have breast cancer and received genetic counseling regarding indeterminate negative BRCA1/2 test results. A secondary purpose was to evaluate breast cancer screening recommendations from relative's primary care providers (PCPs) and recent screening participation. We assessed the type and amount of information about genetic counseling/testing that was shared among family members and with PCPs. Latent variable modeling was used to assess the influence of perceived amount of shared information on the accuracy of relative's own risk perceptions about breast cancer. Using a cross-sectional design, surveys and telephone interviews were conducted with 85 female relatives. Most estimated their risk to be higher than calculated estimates, yet calculated risk demonstrated that most were at average-risk (operationalized as < 20% lifetime risk by Claus and BRCAPRO risk calculators). A majority of average-risk relatives (87%) reported receiving recommendations for annual mammography from their PCP, and having a mammogram within the past 1-2 years. However, 10% of women were identified as being at elevated-risk (>20% lifetime risk by Claus or BRCAPRO), warranting annual breast magnetic resonance imaging (MRI) screening according to national guidelines; none of these women received recommendations for MRI screening. Regarding sharing of information, nearly 20% of relatives reported that nothing was iv shared with them about their family member's genetic counseling; most (76.5%) did not discuss their family member's genetic testing or test results with their PCP. Further, relatives were generally unaware of the existence of a genetic counseling summary letter provided as part of standardized genetic counseling. Those who perceived more information was shared with them about their relative's genetic counseling had more accurate perceptions of their own risk for breast cancer (correlation = 0.748 (p=0.000) than women who perceived less information was shared (correlation = 0.346 (p=0.05). Our findings underscore the need for effective strategies that facilitate sharing of genetic counseling information with relatives and PCPs.