Sorscher Steven
Author is in private practice as an oncologist.
J Am Board Fam Med. 2023 Apr 3;36(2):360-365. doi: 10.3122/jabfm.2022.220288R1. Epub 2023 Feb 17.
Colorectal cancer (CRC) is among the most common cancers diagnosed in the United States. Most patients are cured, have completed their routine surveillance in oncology clinics, and are being followed by primary care clinicians (PCCs). Those providers are tasked with discussing with these patients genetic testing for inherited cancer-predisposing genes that are called PGVs.Recently, the National Comprehensive Cancer Network (NCCN) Hereditary/Familial High-Risk Assessment: Colorectal Guidelines expert panel updated their recommendations for genetic testing. It is now recommended that all patients diagnosed with CRC before age 50 be tested and patients diagnosed at age 50 or older be considered for multigene panel testing (MGPT) for inherited cancer-predisposing PGVs.Here, I discuss the basis for the NCCN expanded genetic testing recommendations and highlight the salient controversies related to genetic testing. I also review the literature that suggests that PCCs identified more training as the measure needed before they are comfortable having complex discussions related to genetic testing with their patients.
结直肠癌(CRC)是美国诊断出的最常见癌症之一。大多数患者已治愈,完成了肿瘤诊所的常规监测,并由初级保健临床医生(PCC)进行随访。这些医疗服务提供者的任务是与这些患者讨论针对称为PGV的遗传性癌症易感基因的基因检测。最近,美国国立综合癌症网络(NCCN)遗传性/家族性高危评估:结直肠癌指南专家小组更新了他们的基因检测建议。现在建议对所有50岁之前诊断为CRC的患者进行检测,对于50岁及以上诊断出的患者,考虑对遗传性癌症易感PGV进行多基因检测(MGPT)。在此,我讨论NCCN扩大基因检测建议的依据,并强调与基因检测相关的突出争议。我还回顾了相关文献,这些文献表明,PCC认为更多培训是他们在与患者进行有关基因检测的复杂讨论之前需要采取的措施。