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遗传咨询师对基于人群的 BRCA 相关遗传性乳腺癌和卵巢癌及林奇综合征筛查的看法。

Genetic counselors' perspectives on population-based screening for BRCA-related hereditary breast and ovarian cancer and Lynch syndrome.

机构信息

Northwestern University Genetic Counseling Program, Chicago, Illinois, USA.

Myriad Women's Health, South San Francisco, California, USA.

出版信息

J Genet Couns. 2021 Feb;30(1):158-169. doi: 10.1002/jgc4.1305. Epub 2020 Jun 20.

Abstract

Early identification of those with BRCA-related Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch syndrome has the potential for early cancer detection and/or prevention; as such, these conditions are considered Tier 1 genetic conditions by the U.S. Center for Disease Control and Prevention. Given the decreasing cost of genetic testing, population-based screening (PBS) for such conditions may be the next step toward cancer prevention. This study aimed to understand genetic counselors' perspectives toward offering PBS for the Tier 1 conditions BRCA-related HBOC and Lynch syndrome. An online survey was distributed to 3,609 members of the National Society of Genetic Counselors. A total of 367 individuals participated in the study. Fifty percent of respondents felt that PBS for inherited cancer should not be offered; 93.3% felt that the current healthcare system is unprepared for implementation of PBS. However, most respondents agreed that PBS should be implemented within the next 10 years. Attitudes toward offering PBS were associated with respondents' work setting, cancer specialization, and perceived preparedness (p's < 0.05). The most commonly reported barriers to the implementation of PBS were shortage of genetic professionals and lack of infrastructure. Data in this study provide evidence that infrastructural barriers and educational gaps of non-genetic professionals would need to be addressed before successful integration of PBS into the healthcare system.

摘要

早期识别与 BRCA 相关的遗传性乳腺癌和卵巢癌综合征(HBOC)和林奇综合征患者有早期发现癌症和/或预防癌症的潜力;因此,这些情况被美国疾病控制与预防中心视为一级遗传条件。鉴于基因检测成本的降低,针对这些情况的基于人群的筛查(PBS)可能是癌症预防的下一步。本研究旨在了解遗传咨询师对提供 BRCA 相关 HBOC 和林奇综合征一级条件的 PBS 的看法。一项在线调查分发给了全国遗传咨询师协会的 3609 名成员。共有 367 人参与了这项研究。50%的受访者认为不应该提供遗传性癌症的 PBS;93.3%的人认为目前的医疗保健系统尚未为实施 PBS 做好准备。然而,大多数受访者认为 PBS 应该在未来 10 年内实施。提供 PBS 的态度与受访者的工作环境、癌症专业知识以及对准备情况的看法有关(p<0.05)。实施 PBS 最常报告的障碍是遗传专业人员短缺和基础设施缺乏。本研究中的数据表明,在成功将 PBS 纳入医疗保健系统之前,需要解决基础设施障碍和非遗传专业人员的教育差距问题。

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