Recognizing the importance of identifying patients at high risk for inherited cancer predisposition, the United States Preventive Services Task Force (USPSTF) has outlined specific family history patterns associated with an increased risk for BRCA mutations. However, national data indicate a need to facilitate the ability of primary care providers to appropriately identify high risk patients. Once a patient is identified as high risk, it is necessary for the patient to undergo a detailed genetics evaluation to generate a differential diagnosis, determine a cost-effective genetic testing strategy, and interpret results of testing. With identification of inherited predisposition, risk management strategies in line with national guidelines can be implemented to improve patient outcomes through cancer risk reduction and early detection. As use of genetic testing increasingly impacts patient outcomes, the role of primary care providers in the identification and care of individuals at high risk for hereditary cancer becomes even more important. Nevertheless it should be acknowledged that primary care providers face many competing demands and challenges to identify high risk patients. Therefore initiatives which promote multidisciplinary and coordinated care, potentially through academic-community partnerships, may provide an opportunity to enhance care of these patients. 1. Introduction As the field of clinical cancer genetics has matured, more community-based and primary care providers are identifying and testing individuals who are at high risk for hereditary cancer syndromes or referring high-risk patients to a genetics professional [1, 2]. Genetic testing for hereditary cancer has implications across the cancer prevention and control spectrum, from risk assessment to diagnosis, to treatment (as illustrated for BRCA mutation carriers in Figure 1). Using the BRCA1 and BRCA2 (BRCA) genes discovered almost 2 decades ago as examples [3, 4], there are now evidence-based management guidelines that improve patient outcomes through cancer risk reduction and early detection [5–7]. Specifically, for those women with a BRCA mutation, interventions such as prophylactic mastectomy and oophorectomy reduce incidence of breast cancer and ovarian cancer by over 95% and 80%, respectively [8–14]. In recognition of the increasing importance of identification and management of inherited cancer risk, the 2009 ACOG practice bulletin indicated that routine obstetrics and gynecology (OB/GYN) practice [15] should include: (1) recognition of high risk patients based on personal and
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