Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium
Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium
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DOI：
10.1016/j.clgc.2019.04.013
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发表时间：
2019-08-01
影响因子：
3.2
通讯作者：
Giri, Veda N.
中科院分区：
文献类型：
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作者：
Paller, Channing J.;Antonarakis, Emmanuel S.;Giri, Veda N.
超过10%的晚期前列腺癌患者携带遗传性基因突变，可能会放大他们对靶向治疗的反应，但包括遗传咨询师短缺在内的障碍限制了患者获得靶向治疗的检测。这项对美国19个综合癌症中心的实践的研究表明，遗传咨询师的短缺和其他4个障碍限制了这一重要进展的采用。在此，我们还对生殖系基因检测实践进行了分类，并阐明了可能扩大检测可用性的举措。背景：生殖系基因检测越来越多地识别出晚期前列腺癌（PCa）患者，这些患者是精确治疗的候选人。前列腺癌临床试验联盟（PCCTC）成立了生殖系遗传学工作组，为扩大生殖系基因检测的有效使用提供指导和资源。材料与方法：通过电子邮件向43个PCCTC站点的学术肿瘤学家发送了一份14项调查问卷，以收集有关生殖系基因检测模式的信息，包括考虑的患者，检测方法的选择，阻碍采用的障碍以及克服障碍的行动。结果：来自19个机构的26名泌尿生殖系统肿瘤学家做出了回应。低于40%（10/26）报告将患者转介到遗传学部门，而其余的人则负责基因检测和咨询; 16（62%）考虑检测所有转移性PCa患者，而3（12%）考虑检测所有患有高风险局部疾病的患者; 7例（27%）使用多基因综合泛癌组，14例（54%）使用较小或靶向癌基因组。广泛使用的障碍是：（1）延迟或有限的遗传咨询;（2）没有保险;（3）缺乏有效的工作流程;（4）教育材料不足;（5）忙碌诊所的时间和空间限制。主要的限制是
More than 10% of patients with advanced prostate cancer carry inherited genetic mutations that might amplify their response to targeted therapies, but barriers, including a shortage of genetic counselors, limit patient access to testing that would enable targeted therapy. This study of practices in nineteen US comprehensive cancer centers showed that a shortage of genetic counselors and 4 other barriers limit adoption of this important advance. Herein we also catalogue germline genetic testing practices and illuminate initiatives that might expand testing availability.Background: Germline genetic testing increasingly identifies advanced prostate cancer (PCa) patients who are candidates for precision therapies. The Prostate Cancer Clinical Trials Consortium (PCCTC) established the Germline Genetics Working Group to provide guidance and resources to expand effective use of germline genetic testing. Materials and Methods: A 14-item questionnaire was e-mailed to academic oncologists at 43 PCCTC sites to collect information on germline genetic testing patterns, including patients considered, choice of assays, barriers slowing adoption, and actions to overcome barriers. Results: Twenty-six genitourinary oncologists from 19 institutions responded. Less than 40% (10 of 26) reported referring patients to a genetics department, whereas the remainder take personal responsibility for genetic testing and counseling; 16 (62%) consider testing all metastatic PCa patients, whereas 3 (12%) consider testing all patients with high-risk local disease; and 7 (27%) use multigene comprehensive pan-cancer panels, and 14 (54%) use smaller or targeted cancer gene panels. Barriers to widespread use are: (1) delayed or limited access to genetic counseling; (2) no insurance coverage; (3) lack of effective workflows; (4) insufficient educational materials; and (5) time and space constraints in busy clinics. The primary limitation was the