Liang Margaret I, Wong Deanna H, Walsh Christine S, Farias-Eisner Robin, Cohen Joshua G
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of California Los Angeles, 10833 Le Conte Avenue, CHS Room 27-139, Los Angeles, CA, 90095, USA.
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
J Genet Couns. 2018 Feb;27(1):177-186. doi: 10.1007/s10897-017-0135-2. Epub 2017 Aug 7.
Multi-gene panel testing has expanded the genetic information available to cancer patients. The objective was to assess provider behaviors and attitudes and patient knowledge and attitudes towards genetic counseling and testing. An online survey was distributed to Society of Gynecologic Oncology members and a written questionnaire was administered to patients diagnosed with epithelial ovarian cancer at a tertiary care referral center. Most of the 233 (18% response rate) provider respondents were gynecologic oncologists. Access to a genetic counselor was reported by 87% of providers and 55% deferred all testing to genetic counselors. Of 53 ovarian cancer patient respondents, two-thirds had previously seen a genetic counselor or undergone testing. Patients' attitudes about genetic counseling and/or testing were favorable with respect to themselves (70-81%) and their family members (94%). Less than 25% of patients indicated worrying about health care discrimination, lack of privacy, or high cost. Seventy-seven percent of patients demonstrated a desire to obtain genetic information even if the results were not currently actionable, and 20% of providers stated they test for only those genes with guideline-supported actionable results. Provider practice differences were identified in screening and prevention strategies for patients with deleterious non-BRCA mutations and variants of uncertain significance. The variation in clinical interpretation of results associated with poorly defined cancer risks signals a need for more comprehensive training and guidelines to ensure access to evidence-based care.
多基因检测面板扩展了癌症患者可获得的基因信息。目的是评估医疗服务提供者的行为和态度以及患者对遗传咨询和检测的知识和态度。向妇科肿瘤学会成员发放了在线调查问卷,并向一家三级医疗转诊中心诊断为上皮性卵巢癌的患者发放了书面问卷。233名医疗服务提供者受访者(回复率为18%)中,大多数是妇科肿瘤学家。87%的医疗服务提供者报告说可以获得遗传咨询师的服务,55%将所有检测工作交给遗传咨询师。在53名卵巢癌患者受访者中,三分之二的人之前见过遗传咨询师或接受过检测。患者对遗传咨询和/或检测对自己(70%-81%)和家人(94%)的态度是积极的。不到25%的患者表示担心医疗保健歧视、缺乏隐私或费用高昂。77%的患者表示,即使检测结果目前无法采取行动,他们也希望获得基因信息,20%的医疗服务提供者表示,他们只检测那些有指南支持的可采取行动结果的基因。在对有害的非BRCA突变和意义不明确的变异患者的筛查和预防策略方面,发现了医疗服务提供者的做法存在差异。与定义不明确的癌症风险相关的检测结果的临床解释存在差异,这表明需要更全面的培训和指南,以确保获得基于证据的医疗服务。