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对新诊断结直肠癌患者进行林奇综合征筛查的实施:公共卫生/临床协作会议纪要。

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting.

机构信息

Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

出版信息

Genet Med. 2012 Jan;14(1):152-62. doi: 10.1038/gim.0b013e31823375ea. Epub 2011 Oct 27.

Abstract

Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.

摘要

林奇综合征是遗传性结直肠癌最常见的原因,约占美国所有结直肠癌病例的 3%。2009 年,独立的实践和预防基因组应用评估工作组进行了一项基于证据的审查程序,结果建议对所有新诊断为结直肠癌的个体进行林奇综合征的基因检测,目的是降低家庭成员的发病率和死亡率。为了探讨实施这一建议所涉及的问题,疾病预防控制中心于 2010 年 9 月召集了一个多学科工作组会议。本文回顾了林奇综合征筛查的背景信息,并总结了现有的临床范例、潜在的实施策略以及会议得出的结论。会议认识到,广泛实施将带来巨大的挑战,需要来自试点研究的更多数据。然而,人们已经认识到这种方法具有可行性和人群健康效益,以及考虑公共卫生方法的优势。林奇综合征可以作为一个模型,促进基于证据的基因组医学应用的人群水平项目的开发和实施,包括对高危亲属进行后续检测。这些努力将需要多层次和多学科的方法,建立在公共卫生和临床伙伴关系的基础上。

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To screen or not to screen for Lynch syndrome.是否对林奇综合征进行筛查。
J Natl Cancer Inst. 2010 Sep 22;102(18):1382-4. doi: 10.1093/jnci/djq372. Epub 2010 Sep 8.

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