Division of Clinical Cancer Genomics, Departments of Medical Oncology and Therapeutics Research and Population Sciences, City of Hope, Duarte, California, USA.
Department of Supportive Care Medicine, City of Hope, Duarte, California, USA.
J Genet Couns. 2022 Oct;31(5):1164-1172. doi: 10.1002/jgc4.1587. Epub 2022 May 26.
Next-generation tumor tissue sequencing techniques may result in the detection of putative germline pathogenic variants (PVs), raising the possibility that germline cancer predisposition could be identified from archival medical tissue samples of deceased relatives. The approach, termed traceback, is designed to inform risk management recommendations for living family members. Provider perspectives regarding traceback testing have not yet been explored, so we conducted a cross-sectional survey of Clinical Cancer Genomics Community of Practice providers regarding their attitudes and beliefs toward traceback testing. Self-reported demographics, provider characteristics, attitudes and perceived barriers were collected. We evaluated responses in the context of whether providers had previous experience with traceback testing. Data were analyzed using chi-square and Fisher's exact testing. Among 207 respondents (of 816 eligible), most were women (89.4%), white (85.5%), and not Hispanic or Latino (89.7%). US-based providers represented the majority of respondents (87.4%). Relatively, few providers 32 of 207 (15.5%) had previous experience with traceback. Among the individuals without experience in traceback, 84.0% thought there would be barriers to implementation; however, only 68.8% of individuals with previous traceback experience agreed (p = .04). Respondents in both groups thought that traceback would be valuable in their practice (82.6%, p = .22) and that they would feel comfortable discussing the concept (83.6%, p = .83), interpreting the results (72.2%, p = .24), and discussing the results with their patients (80.7%, p = .38). Patient interest and cost were seen as less of a barrier by those with experience with traceback testing. Recurrent themes obtained in open-ended responses are also presented. Overall, providers believe that traceback would be a valuable tool in their practice. Individuals with previous experience identified less barriers with implementation of this testing, highlighting an area for future research and education.
下一代肿瘤组织测序技术可能会检测到潜在的种系致病性变异（PVs），从而有可能从已故亲属的存档医学组织样本中识别出种系癌症易感性。这种方法称为回溯，旨在为在世的家庭成员提供风险管理建议。关于回溯检测，还没有探索提供者的观点，因此我们对临床癌症基因组学实践社区的提供者进行了横断面调查，了解他们对回溯检测的态度和信念。收集了自我报告的人口统计学、提供者特征、态度和感知障碍。我们根据提供者是否有回溯检测经验来评估反应。使用卡方检验和 Fisher 精确检验进行数据分析。在 207 名受访者（816 名合格者中的 207 名）中，大多数是女性（89.4%），白人（85.5%），非西班牙裔或拉丁裔（89.7%）。来自美国的提供者占大多数受访者（87.4%）。相对而言，很少有提供者（207 名中的 32 名）有回溯检测经验。在没有回溯检测经验的人中，84.0%的人认为实施会存在障碍；然而，只有 68.8%的有回溯检测经验的个人表示同意（p=0.04）。两组受访者都认为回溯检测在他们的实践中是有价值的（82.6%，p=0.22），并且他们会觉得讨论这个概念很舒服（83.6%，p=0.83），解释结果（72.2%，p=0.24），并与患者讨论结果（80.7%，p=0.38）。有回溯检测经验的人认为，患者的兴趣和成本不是一个障碍。在开放性回复中获得的反复出现的主题也被呈现出来。总的来说，提供者认为回溯检测将是他们实践中的一个有价值的工具。有回溯检测经验的个人确定了实施这种检测的较少障碍，这突出了未来研究和教育的一个领域。
