Rodriguez Nicolette Juliana, Syngal Sapna
Division of Gastroenterology, Hepatology and Endoscopy | Brigham and Women's Hospital, Division of Cancer Genetics and Prevention | Dana-Farber Cancer Institute Instructor of Medicine, Harvard Medical School, 75 Francis Street, Boston, MA, 02115, USA.
Center for Cancer Genetics and Prevention Dana-Farber Cancer Institute, Gastrointestinal Cancer Genetics and Prevention Program, Harvard Medical School, 450 Brookline Avenue, Boston, MA, 02215, USA.
Fam Cancer. 2024 Aug;23(3):247-254. doi: 10.1007/s10689-024-00389-w. Epub 2024 May 11.
Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5-10% have a pathogenic germline variant (PGV) in a PDAC susceptibility gene. Guidelines recommend genetic testing among all individuals with PDAC. Additionally, at-risk relatives of PDAC patients benefit from their own genetic education, risk assessment, and testing. Multigene panel testing (MGPT) can identify individuals with inherited cancer risk who can benefit from early cancer surveillance and risk reduction strategies. This manuscript discusses various healthcare delivery models for MGPT including traditional in-person genetic counseling, novel integrated in-person infrastructures, telemedicine genetics care via telephone- or video-visits and direct-to-consumer testing. Barriers and facilitators to care on the individual, provider, and system level are also outlined including specific considerations for historically marginalized communities.
在胰腺导管腺癌（PDAC）患者中，5%-10%在PDAC易感基因中存在致病性种系变异（PGV）。指南建议对所有PDAC患者进行基因检测。此外，PDAC患者的高危亲属可从自身的基因教育、风险评估和检测中受益。多基因panel检测（MGPT）可以识别出具有遗传性癌症风险的个体，这些个体可以从早期癌症监测和风险降低策略中获益。本文讨论了MGPT的各种医疗服务提供模式，包括传统的面对面遗传咨询、新型的综合面对面基础设施、通过电话或视频就诊的远程医疗遗传护理以及直接面向消费者的检测。还概述了个体、提供者和系统层面护理的障碍和促进因素，包括对历史上被边缘化社区的具体考虑。
