Evaluation of a breast/ovarian cancer genetics referral screening tool

The United States Preventive Services Task Force has identified the need for primary care screening tools to facilitate the appropriate referral of patients for cancer genetic counseling and testing for BRCA1/2 mutations. This study evaluated the reliability and accuracy of a “Referral Screening Tool” (RST) designed for rapid identification of individuals at potential hereditary risk for breast/ovarian cancer. The RST was administered to 2,467 unselected women undergoing screening mammography within a private healthcare system in Madison, WI. Detailed four-generation cancer pedigrees were collected by telephone interview on a random subset of 296 women categorized as low, moderate and high risk. Four established risk models (BRCAPRO, Myriad II, BOADICEA and FHAT) were used to analyze the pedigrees for validation purposes. Reliability as measured by concordance of randomly repeated RSTs was 95.5%. Using a dichotomous risk classification scheme, with a 10% BRCA1 or BRCA2 mutation probability or FHAT score of > 10 as the measure of “high-risk,” the RST demonstrated an overall (high-risk by any model) sensitivity of 81.2% (individual model range 81.3-91.3%) and specificity of 91.9% (individual model range 76.2-90.3%). Discriminatory accuracy as measured by the area under the receiver operator characteristic curve was 0.87. Numerical values generated by the risk models revealed no overlap of the inter-quartile ranges between screen positive and screen negative subjects. These data appear to warrant further examination of the RST in primary care settings to assess its impact on the efficiency with which healthcare providers triage patients to cancer genetics services.