Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
Basser Center for BRCA, University of Pennsylvania, Philadelphia, Pennsylvania.
J Urol. 2023 May;209(5):918-927. doi: 10.1097/JU.0000000000003186. Epub 2023 Mar 28.
Genetic testing may alter clinical management for individuals with metastatic prostate cancer by identifying additional therapies. Traditional counseling models are unlikely to enable time-sensitive therapeutic decision-making. This study aimed to determine the feasibility and clinical impact of an alternative hereditary genetic testing model.
As part of a multicenter, single-arm prospective trial, individuals with advanced prostate cancer were referred by their oncologist for testing of 14 genes associated with hereditary prostate cancer. Pretest education (brochure and video) was provided in the oncology clinic. Questionnaires assessing participant satisfaction with both pretest education and decision to undergo genetic testing were collected. A genetic counselor contacted participants by phone to obtain family history and discuss results. Medical records were queried to determine whether a change in clinical management was discussed.
Of 501 participants consented to germline analysis, 51 (10.2%) had at least 1 pathogenic/likely pathogenic variant. Change in treatment was discussed with 22/48 (45.8%) of eligible participants who tested positive. Feasibility of this model was assessed by participant satisfaction and turnaround time. Average±SD satisfaction with the pretest education (15.5±2.2, 4-20 scale) and with the decision to undergo genetic testing (17.1±2.9, 4-20 scale) were both high. Results were returned 20 days (median) after sample collection.
Oncologist-initiated germline genetic testing in collaboration with a genetic counselor is a feasible approach to testing advanced prostate cancer patients with impactful clinical actionability. The testing model and educational material serve as resources to clinicians treating prostate cancer patients.
通过鉴定其他治疗方法，基因检测可能会改变转移性前列腺癌患者的临床治疗方法。传统的咨询模式不太可能实现对治疗决策的时间敏感。本研究旨在确定替代遗传性基因检测模型的可行性和临床影响。
作为一项多中心、单臂前瞻性试验的一部分，由肿瘤学家将晚期前列腺癌患者转介进行 14 个与遗传性前列腺癌相关基因的检测。在肿瘤学诊所提供了预测试教育（宣传册和视频）。收集了评估参与者对预测试教育和进行基因检测的决策的满意度的问卷。遗传咨询师通过电话联系参与者，获取家族史并讨论结果。查询病历以确定是否讨论了临床管理的变化。
在同意进行种系分析的 501 名参与者中，有 51 名（10.2%）至少有 1 种致病性/可能致病性变异。对 22/48 名（45.8%）检测结果阳性的合格参与者讨论了治疗方法的改变。通过参与者的满意度和周转时间来评估该模型的可行性。对预测试教育（15.5±2.2，4-20 分制）和进行基因检测的决策（17.1±2.9，4-20 分制）的平均满意度（±SD）均较高。结果在样本采集后 20 天（中位数）返回。
肿瘤学家与遗传咨询师合作发起的种系基因检测是对晚期前列腺癌患者进行具有重要临床可操作性的检测的可行方法。该检测模型和教育材料可作为治疗前列腺癌患者的临床医生的资源。
