Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors
Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors
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DOI：
10.1007/s12687-018-0398-9
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发表时间：
2019-07-01
影响因子：
1.9
通讯作者：
Etchegary, Holly
中科院分区：
文献类型：
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作者：
Dicks, Elizabeth;Pullman, Daryl;Etchegary, Holly
对所有新诊断的结直肠癌肿瘤进行普遍筛查可以识别林奇综合征 (LS) 高风险个体，林奇综合征是一种遗传性癌症综合征，使携带者患结直肠癌、子宫内膜癌和其他癌症的风险增加。为了为我们管辖范围内的 LS 通用肿瘤筛查计划的规划提供信息，我们对加拿大病理学家和遗传咨询师进行了在线调查，以描述现有的肿瘤筛查计划。 2016 年 10 月至 2017 年 3 月期间，SurveyMonkey 上开展了在线调查。53 名病理学家和 66 名遗传咨询师完成了调查（总计 n=119）。虽然人们对肿瘤筛查的态度是积极的，但在肿瘤筛查、测试顺序标准和实践方面观察到相当大的差异。大多数受访者表示未获得肿瘤筛查的同意，也未向患者提供教育材料；然而，在肿瘤筛查呈阳性的情况下选择退出额外的突变测试得到了认可。结果丰富了越来越多的文献，阐述了提供者对基于人群的肿瘤筛查项目的看法，并为提供这些项目的方式提供了信息。研究结果强调需要制定患者教育方法，以做出有意义的选择退出决定。我们观察到的变异性也表明需要制定 LS 肿瘤筛查的国家标准和指南。
Universal screening of all newly diagnosed colorectal cancer tumors can identify individuals at high risk for Lynch syndrome (LS), a hereditary cancer syndrome predisposing carriers to increased risk of colorectal, endometrial, and other cancers. To inform planning of a universal tumor screening program for LS in our jurisdiction, we undertook online surveys of Canadian pathologists and genetic counselors to describe existing tumor screening programs. Online surveys were hosted on SurveyMonkey between October 2016 and March 2017. Fifty-three pathologists and 66 genetic counselors completed surveys (total n=119). While attitudes towards tumor screening were positive, considerable variability was observed in the existence of tumor screening, test ordering criteria, and practices. Most respondents indicated consent was not obtained for tumor screening nor were educational materials provided to patients; however, opting out of additional mutation testing in the event of a positive tumor screen was endorsed. Results add to the growing literature on providers' perspectives on population-based tumor screening programs and inform ways to offer these. Findings highlight the need to develop methods of patient education that allow meaningful opt-out decisions. The variability we observed also suggests the need for national standards and guidance on tumor screening for LS.