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基因检测如何进行临床应用评估?英国基因检测网络的经验。

How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network.

作者信息

Kroese Mark, Zimmern Ron L, Farndon Peter, Stewart Fiona, Whittaker Joanne

机构信息

Public Health Genetics Unit, Cambridge, UK.

出版信息

Eur J Hum Genet. 2007 Sep;15(9):917-21. doi: 10.1038/sj.ejhg.5201867. Epub 2007 May 30.

Abstract

The UK Department of Health supported the establishment of the UK Genetic Testing Network (UKGTN) in 2002. The UKGTN is a collaborative network of NHS molecular genetic laboratories that offer tests for human single gene germ-line disorders. Its objective is to provide high quality and equitable services for patients and their families who require genetic advice, diagnosis and management. The UKGTN has developed a 'Gene Dossier' process to evaluate genetic tests and recommend which tests will be provided by the National Health Service. This paper describes the UKGTN organisation and the 'Gene Dossier' process. A brief review of the UKGTN genetic test evaluation experience is presented.

摘要

英国卫生部于2002年支持建立了英国基因检测网络(UKGTN)。UKGTN是一个由国民保健制度(NHS)分子遗传学实验室组成的协作网络,这些实验室提供针对人类单基因种系疾病的检测。其目标是为需要基因咨询、诊断和管理的患者及其家庭提供高质量且公平的服务。UKGTN开发了一种“基因档案”流程,用于评估基因检测,并推荐哪些检测将由国家医疗服务体系提供。本文描述了UKGTN的组织架构和“基因档案”流程。还简要回顾了UKGTN基因检测评估经验。

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