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Genetic counselors’ perspectives on population‐based screening for BRCA‐related hereditary breast and ovarian cancer and Lynch syndrome
Journal of Genetic Counseling ( IF 1.9 ) Pub Date : 2020-06-20 , DOI: 10.1002/jgc4.1305
Lenika M De Simone 1 , Aishwarya Arjunan 2 , Kristen J Vogel Postula 3 , Tara Maga 4 , Leslie A Bucheit 5
Affiliation  

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.

中文翻译:

遗传咨询师对 BRCA 相关遗传性乳腺癌和卵巢癌以及林奇综合征人群筛查的看法

早期识别与 BRCA 相关的遗传性乳腺癌和卵巢癌综合征 (HBOC) 和林奇综合征患者具有早期癌症检测和/或预防的潜力;因此,这些疾病被美国疾病控制和预防中心视为一级遗传疾病。鉴于基因检测的成本不断降低,针对此类疾病的基于人群的筛查 (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为一级 BRCA 相关 HBOC 和林奇综合征提供 PBS 的看法。一项在线调查已分发给全国遗传咨询师协会的 3,609 名成员。共有 367 人参与了这项研究。50% 的受访者认为不应为遗传性癌症提供 PBS;93. 3% 的人认为当前的医疗保健系统没有为实施 PBS 做好准备。然而,大多数受访者同意 PBS 应在未来 10 年内实施。提供 PBS 的态度与受访者的工作环境、癌症专业化和感知准备有关。p 's < 0.05)。实施 PBS 最常见的障碍是遗传专业人员短缺和基础设施缺乏。本研究中的数据提供证据表明,在将 PBS 成功整合到医疗保健系统之前,需要解决非遗传专业人员的基础设施障碍和教育差距。
更新日期:2020-06-20
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