Identification, Evaluation, and Treatment of Patients with Hereditary Cancer Risk within the United States

Abstract

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.

Clinical and Pathological Characteristics of Incidental Diagnostic Early Occult Malignancy After Risk-Reducing Salpingo-Oophorectomy in BRCA Mutation Carriers

“…6 The present criteria for screening, which were set forth in 2005 by the United States Preventative Services Task Force, 7 have become widely accepted. 8,9 Accordingly, women of Ashkenazi Jewish descent with a first-or second-degree relative with breast or ovarian cancer are recommended to test.…”

Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers

“…Through ICARE enrollment, participants are consented and asked to complete a baseline questionnaire and an authorization for the release of medical records to obtain relevant genetics records (ie, genetic test reports and pedigrees). ICARE participants are recruited through various means, including: 1) referrals from health care providers who have partnered with ICARE at various clinical centers across the United States and internationally; 2) directly online through the registry website (http://inheritedcancer.net); and 3) through local and national outreach activities . Greater than 3000 participants currently are enrolled in ICARE, of which nearly two‐thirds have a P/LP variant in an inherited cancer predisposing gene.…”

“…ICARE participants are recruited through various means, including: 1) referrals from health care providers who have partnered with ICARE at various clinical centers across the United States and internationally; 2) directly online through the registry website (http://inher itedc ancer.net); and 3) through local and national outreach activities. [16][17][18] Greater than 3000 participants currently are enrolled in ICARE, of which nearly two-thirds have a P/LP variant in an inherited cancer predisposing gene.…”

Strategies to enhance identification of hereditary breast cancer gene carriers

“…Interventions to overcome system-, provider-, and patientlevel barriers to providing appropriate, effective, and equitable genetic testing require a coordinated effort. System-level approaches to improve patient ascertainment and uptake of genetic testing include implementation of various tools such as electronic health record (EHR) prompts/integrated tools, paper screening forms, and web-based screening applications [56,57,58,59,60]. Automated efforts to identify patients, alert treating physicians, and refer cancer patients who meet criteria for genetic testing have shown promise to increase appropriate referrals for genetic counseling [61,62].…”