现在指南建议对所有胰腺导管腺癌 (PDAC) 患者进行通用种系基因检测 (GGT)。检测提供有关可采取行动的致病变异的信息，并指导患者和家人的管理。由于传统的遗传咨询 (GC) 模型耗时且 GC 资源稀少，因此需要新的方法来遵守指南，而又不会压垮可用资源。针对医生主导的 GGT 开发了一种新方案。完整的测试套件已交付给 GC 团队，该团队负责维护预期数据库并邮寄所有订单。如果结果显示 PDAC 致病性变异，则为患者提供全面的 GC，而阴性和意义不确定的变异 (VUS) 检测结果则通过简短的电话报告给患者。 在 2020 年 1 月至 2022 年 12 月期间的方案实施期间，有 310 名患者 (81.5%)接受GGT，医生依从率为82.6%，患者依从率为98.7%。在接受检测的 310 名患者中，44 名（14.2%）名患者检测到致病性变异，而 83 名（26.8%）名患者患有 VUS。致病变异包括 BRCA1/BRCA2/PALB2 (n = 18, 5.8%)、ATM (n = 9, 2.9%)、CFTR (n = 4, 1.3%)、EPCAM/MLH1/MSH2/MSH6/PMS2 (n = 3) , 1.0%) 和 CDKN2A (n = 2, 0.7%)。 GC 团队成功联系了所有具有致病性变异的患者，讨论结果并提供全面的 GC。尽管 GC 资源有限，但我们的新颖方案使 GGT 具有良好的依从性。该 GGT 框架将 GC 资源分配给那些将从 GC 中受益最多的患者。随着我们继续扩大该计划，我们寻求实施方法以确保符合高风险家庭成员的级联测试。© 2024。外科肿瘤学会。

Guidelines now recommend universal germline genetic testing (GGT) for all pancreatic ductal adenocarcinoma (PDAC) patients. Testing provides information on actionable pathogenic variants and guides management of patients and family. Since traditional genetic counseling (GC) models are time-intensive and GC resources are sparse, new approaches are needed to comply with guidelines without overwhelming available resources.A novel protocol was developed for physician-led GGT. Completed test kits were delivered to the GC team, who maintained a prospective database and mailed all orders. If results revealed pathogenic variants for PDAC, patients were offered comprehensive GC, whereas negative and variant of uncertain significance (VUS) test results were reported to patients via brief calls.During protocol implementation between January 2020 and December 2022, 310 (81.5%) patients underwent GGT, with a physician compliance rate of 82.6% and patient compliance rate of 98.7%. Of 310 patients tested, 44 (14.2%) patients had detection of pathogenic variants, while 83 (26.8%) patients had VUS. Pathogenic variants included BRCA1/BRCA2/PALB2 (n = 18, 5.8%), ATM (n = 9, 2.9%), CFTR (n = 4, 1.3%), EPCAM/MLH1/MSH2/MSH6/PMS2 (n = 3, 1.0%), and CDKN2A (n = 2, 0.7%). The GC team successfully contacted all patients with pathogenic variants to discuss results and offer comprehensive GC.Our novel protocol facilitated GGT with excellent compliance despite limited GC resources. This framework for GGT allocates GC resources to those patients who would benefit most from GC. As we continue to expand the program, we seek to implement methods to ensure compliance with cascade testing of high-risk family members.© 2024. Society of Surgical Oncology.