Cragun Deborah, Pal Tuya
Department of Cancer Epidemiology, Moffitt Cancer Center, 12902 Magnolia Drive, Tampa, FL 33612, USA.
ISRN Oncol. 2013 Dec 22;2013:260847. doi: 10.1155/2013/260847.
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.
认识到识别遗传性癌症易感性高危患者的重要性，美国预防服务工作组（USPSTF）已概述了与BRCA突变风险增加相关的特定家族病史模式。然而，国家数据表明有必要提高初级保健提供者适当识别高危患者的能力。一旦确定患者为高危患者，患者就有必要接受详细的遗传学评估，以进行鉴别诊断、确定具有成本效益的基因检测策略并解读检测结果。随着遗传性易感性的确定，可以实施符合国家指南的风险管理策略，通过降低癌症风险和早期检测来改善患者的治疗效果。由于基因检测的使用越来越多地影响患者的治疗效果，初级保健提供者在识别和护理遗传性癌症高危个体方面的作用变得更加重要。然而，应该认识到初级保健提供者在识别高危患者方面面临许多相互竞争的需求和挑战。因此，通过学术-社区伙伴关系等方式促进多学科和协调护理的举措，可能为加强对这些患者的护理提供机会。
