癌症易感基因的种系基因检测已成为癌症治疗和降低风险的重要组成部分。国家综合癌症网络 (NCCN) 发布年度基因检测指南，确定可能受遗传性癌症综合征影响的患者特征。随着时间的推移，这些指南的范围不断扩大，对过去癌症遗传学诊所患者的影响尚不清楚。本研究是一项回顾性图表审查，旨在确定过去患者符合更新的 NCCN 指南（乳腺癌、卵巢和胰腺 [BOP] v1.2022 和结直肠 [CRC] v1.2021）的百分比和特征，以及参加后续治疗的患者预约，以及继续接受基因检测的患者。对整个研究人群与符合更新的 NCCN 指南 BOP v1.2022 和 CRC v1.2021 的患者队列之间的临床数据和特征进行了比较。研究人群包括 280 名患者，其中 76 名 (27.1%) 患者符合更新的 NCCN 指南 BOP v1.2022 和 CRC v1.2021。初次癌症遗传咨询预约的年份具有统计学意义 (p = 0.023)，患者更可能符合 NCCN 指南 BOP v1.2022 和 CRC v1.2021 且初次癌症遗传咨询预约较早的患者。在符合更新的 NCCN 指南 BOP v1.2022 和 CRC v1.2021 的队列中，最常见的原因是 NCCN 指南（BOP 或 CRC）发生变化（54/76，71.1%），诊断为三阴性乳腺癌任何年龄都是最有影响力的指南变化（19/54，35.2%）。 21 名患者参加了随访预约 (7.5%)，在接受基因检测的患者中 (17/21, 81%)，大多数获得阴性结果 (13/17, 61.9%)，其中有一种致病性、外显率较低的结果 ( 1/17，5.9%，CHEK2 p.I157T）。大多数随访预约都是由提供者发起的随访（16/21，76.2%），这意味着患者不倾向于自行随访。对非遗传学服务提供者进行教育以及有针对性地实施可能由遗传咨询助理管理的随访方案以及利用电子病历 (EMR) 患者消息传递可以改善患者随访。© 2023 年国家遗传咨询师协会。

Germline genetic testing for cancer predisposition genes has become an essential component of cancer treatment and risk reduction. The National Comprehensive Cancer Network (NCCN) releases annual genetic testing guidelines that identify characteristics of patients that could be affected by a hereditary cancer syndrome. These guidelines have broadened over time and the implications for past patients of cancer genetics clinics are not well understood. This study is a retrospective chart review aimed at determining the percentage and characteristics of past patients that meet updated NCCN guidelines (Breast, Ovarian, and Pancreas [BOP] v1.2022 and Colorectal [CRC] v1.2021), patients that attended a follow-up appointment, and patients who went on to receive genetic testing. Clinical data and characteristics were compared between the study population as a whole and the cohort of patients that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The study population consisted of 280 patients with 76 (27.1%) patients meeting updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The year of initial cancer genetic counseling appointment was statistically significant (p = 0.023) with patients more likely to meet NCCN guidelines BOP v1.2022 and CRC v1.2021 with earlier initial cancer genetic counseling appointments. In the cohort that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021, the most common reason was a change in the NCCN guidelines (BOP or CRC) (54/76, 71.1%) with triple-negative breast cancer diagnosed at any age being the most impactful guideline change (19/54, 35.2%). Twenty-one patients attended a follow-up appointment (7.5%) and of those that received genetic testing (17/21, 81%) most received negative results (13/17, 61.9%), with one pathogenic, low penetrance result (1/17, 5.9%, CHEK2 p.I157T). Provider-initiated follow-up was attributed to most follow-up appointments (16/21, 76.2%) implying patients do not tend to follow-up on their own. Education to non-genetics providers as well as targeted implementation of follow-up protocols possibly managed by genetic counseling assistants and utilizing electronic medical record (EMR) patient messaging could lead to improved patient follow-up.© 2023 National Society of Genetic Counselors.