Kroese Mark, Zimmern Ron L, Farndon Peter, Stewart Fiona, Whittaker Joanne
Public Health Genetics Unit, Cambridge, UK.
Eur J Hum Genet. 2007 Sep;15(9):917-21. doi: 10.1038/sj.ejhg.5201867. Epub 2007 May 30.
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.
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。
