Divison of Gastroenterology, Department of Medicine, Weill Cornell Medicine, New York, NY.
Division of Epidemiology, Department of Population Science, Weill Cornell Medicine, New York, NY.
JCO Clin Cancer Inform. 2024 Jun;8:e2300157. doi: 10.1200/CCI.23.00157.
Identification of those at risk of hereditary cancer syndromes using electronic health record (EHR) data sources is important for clinical care, quality improvement, and research. We describe diagnostic processes, previously seldom reported, for a common hereditary cancer syndrome, Lynch syndrome (LS), using EHR data within a community-based, multicenter, demographically diverse health system.
Within a retrospective cohort enrolled between 2015 and 2020 at Kaiser Permanente Northern California, we assessed electronic diagnostic domains for LS including (1) family history of LS-associated cancer; (2) personal history of LS-associated cancer; (3) LS screening via mismatch repair deficiency (MMRD) testing of newly diagnosed malignancy; (4) germline genetic test results; and (5) clinician-entered diagnostic codes for LS. We calculated proportions and overlap for each diagnostic domain descriptively.
Among 5.8 million individuals, (1) 28,492 (0.49%) had a family history of LS-associated cancer of whom 3,635 (13%) underwent genetic testing; (2) 100,046 (1.7%) had a personal history of a LS-associated cancer; and (3) 8,711 (0.1%) were diagnosed with colorectal cancer of whom 7,533 (86%) underwent MMRD screening and of the positive screens (486), 130 (27%) underwent germline testing. One thousand seven hundred and fifty-seven (0.03%) were diagnosed with endometrial cancer of whom 1,613 (92%) underwent MMRD screening and of the 195 who screened positive, 55 (28%) underwent genetic testing. (4) 30,790 (0.05%) had LS germline genetic testing with 707 (0.01%) testing positive; and (5) 1,273 (0.02%) had a clinician-entered diagnosis of LS.
It is feasible to electronically characterize the diagnostic processes of LS. No single data source comprehensively identifies all LS carriers. There is underutilization of LS genetic testing for those eligible and underdiagnosis of LS. Our work informs similar efforts in other settings for hereditary cancer syndromes.
利用电子健康记录 (EHR) 数据源识别遗传性癌症综合征患者对于临床护理、质量改进和研究非常重要。我们描述了一种常见的遗传性癌症综合征——林奇综合征 (LS) 的诊断过程，该过程使用了社区为基础、多中心、人口统计学多样化的健康系统中的 EHR 数据。
在 2015 年至 2020 年期间，我们在 Kaiser Permanente Northern California 招募了一个回顾性队列，评估了包括 (1) LS 相关癌症家族史；(2) LS 相关癌症个人史；(3) 通过新诊断恶性肿瘤的错配修复缺陷 (MMRD) 检测进行 LS 筛查；(4) 种系基因检测结果；和 (5) 临床医生输入的 LS 诊断代码在内的 LS 电子诊断领域。我们通过描述性分析计算了每个诊断领域的比例和重叠。
在 580 万人中，(1) 28492 人 (0.49%) 有 LS 相关癌症家族史，其中 3635 人 (13%) 接受了基因检测；(2) 100046 人 (1.7%) 有 LS 相关癌症个人史；和 (3) 8711 人 (0.1%) 被诊断为结直肠癌，其中 7533 人 (86%) 接受了 MMRD 筛查，阳性筛查者中有 486 人 (27%) 接受了种系检测。1757 人 (0.03%) 被诊断为子宫内膜癌，其中 1613 人 (92%) 接受了 MMRD 筛查，195 名筛查阳性者中有 55 人 (28%) 接受了基因检测。(4) 30790 人 (0.05%) 接受了 LS 种系基因检测，其中 707 人 (0.01%) 检测结果为阳性；和 (5) 1273 人 (0.02%) 临床医生诊断为 LS。
电子描述 LS 的诊断过程是可行的。没有单一的数据源可以全面识别所有 LS 携带者。对于符合条件的人，LS 基因检测的利用率不足，LS 的诊断不足。我们的工作为其他遗传癌症综合征在其他环境中的类似工作提供了信息。
