Harris Jenna, Horton Nicole, Huelsman Karen
TriHealth Precision Medicine Institute, Cincinnati, Ohio, USA.
J Genet Couns. 2025 Jun;34(3):e70071. doi: 10.1002/jgc4.70071.
When cancer patients undergo tumor profile testing with paired tumor tissue and germline samples, incidental germline pathogenic variants are identified in up to 1 of 8 cases. Genetic counselors (GCs) play an important role in identifying these patients for genetic counseling referral and confirmatory germline testing. Tumor profile tests are typically ordered by medical oncologists, so a collaborative partnership with GCs supports appropriate follow-up. Manual methods to identify these patients can be time-consuming and tedious. In 2020, our team implemented a genomics module in the electronic health record system (EHR) and completed integration with the tumor testing laboratory. We used discrete variants in our EHR to create a reporting workbench tool to identify patients with incidental germline pathogenic variants. A protocol for triaging flagged patients to traditional vs. embedded care confirmatory germline testing was developed for appropriate referral. Patients were considered eligible for GC referral and confirmatory germline testing after excluding those who were deceased, previously tested, or declined confirmatory germline testing with documentation in the EHR. From 2020 to 2024, the GC referral rate increased from 27% to 100% and the confirmatory germline testing rate increased from 27% to 66%. Of all incidental germline pathogenic variants that underwent confirmatory germline testing, 100% were confirmed. Confirmatory germline testing did reveal secondary pathogenic variants not reported initially on tumor profile tests. We found additional pathogenic variants in 8.6% (2/23) and 9.7% (3/31) of patients tested in 2023 and 2024, respectively. Between 2019 and 2024, 192 total incidental germline patients were identified. The proportion of patients who underwent tumor profile testing with incidental germline findings was 7.3% overall, which is concordant with previously reported study rates. Discrete identification of potential germline variants via EHR integration supported the efficient triaging of patients eligible for GC referral and confirmatory germline testing, contributing to a 100% referral rate in 2024. Integration of the testing laboratory creates opportunity for further EHR application, such as Best Practice Alerts and Health Maintenance Care Gaps. Building laboratory integration for discrete genomic variants increases reporting capabilities, patient tracking, cascade testing, and could be applied to many broader medical contexts.
当癌症患者使用配对的肿瘤组织和种系样本进行肿瘤特征检测时，高达八分之一的病例中会发现偶然的种系致病变异。遗传咨询师（GCs）在识别这些患者以进行遗传咨询转诊和验证性种系检测方面发挥着重要作用。肿瘤特征检测通常由医学肿瘤学家开出医嘱，因此与遗传咨询师的合作关系有助于进行适当的后续跟进。通过人工方法识别这些患者可能既耗时又繁琐。2020年，我们的团队在电子健康记录系统（EHR）中实施了一个基因组学模块，并完成了与肿瘤检测实验室的整合。我们在电子健康记录中使用离散变异创建了一个报告工作台工具，以识别具有偶然种系致病变异的患者。制定了一项将标记患者分流到传统或嵌入式护理验证性种系检测的方案，以便进行适当转诊。在排除那些已死亡、先前已检测或在电子健康记录中有拒绝验证性种系检测记录的患者后，将患者视为有资格接受遗传咨询师转诊和验证性种系检测。从2020年到2024年，遗传咨询师转诊率从27%提高到100%，验证性种系检测率从27%提高到66%。在所有接受验证性种系检测的偶然种系致病变异中，100%得到了确认。验证性种系检测确实发现了肿瘤特征检测最初未报告的继发性致病变异。我们分别在2023年和2024年检测的患者中发现8.6%（2/23）和9.7%（3/31）有额外的致病变异。2019年至2024年期间，共识别出192例偶然种系患者。总体而言，有偶然种系发现而接受肿瘤特征检测的患者比例为7.3%，这与先前报道的研究率一致。通过电子健康记录整合离散识别潜在的种系变异，有助于对有资格接受遗传咨询师转诊和验证性种系检测的患者进行有效分流，使得2024年的转诊率达到100%。检测实验室的整合为电子健康记录的进一步应用创造了机会，如最佳实践警报和健康维护护理差距。建立离散基因组变异的实验室整合可提高报告能力、患者追踪、级联检测，并可应用于更广泛的医疗环境。
