Development and Evaluation of a Clinical Decision Support Tool for BRCA 1 and BRCA 2 Mutation Screening in Primary Care

The USPSTF recommends that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing. It is challenging for a typical primary care provider to collect a detailed cancer family history to assess a woman's risk for BRCA mutations. In order to help translate USPSTF recommendations into practice, the AHRQ and RTI, International are developing a computerized decision support tool for use in primary care settings. The development of this tool was informed by a literature review and advice from an expert panel with expertise in the fields of primary care, genetics, clinical informatics, decision aids, and risk and patient-provider communication. The tool is designed to help patients: 1) gather their family history of cancer; 2) learn their risk for BRCA mutations based on the BRCAPRO algorithm; and 3) discuss their family history and risk status with their physician. The tool allows providers to view and edit patients' cancer family history information to accurately identify patients who are increased risk for BRCA mutations and therefore need to be referred to a genetic counselor for education and testing. The tool will be validated with data from retrospective studies and designed to minimally affect clinical work flow. Results from usability testing with both patients and providers and from a preliminary evaluation of the tool by providers and patients from four primary care clinics will be presented.