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英国国民医疗服务体系中的分子遗传学

Molecular genetics in the National Health Service in Britain.

作者信息

Harris R, Elles R, Craufurd D, Dodge A, Ivinson A, Hodgkinson K, Mountford R, Schwartz M, Strachan T, Read A

机构信息

Department of Medical Genetics, St Mary's Hospital, Manchester.

出版信息

J Med Genet. 1989 Apr;26(4):219-25. doi: 10.1136/jmg.26.4.219.

Abstract

A recent report from the Departments of Health draws attention to the value of DNA diagnosis for inherited diseases and the need for planning these services in the National Health Service. There is great potential for preventive medicine, but a major immediate benefit is the newfound ability to exclude the carrier state in many people at risk and to protect fetuses from abortion when, as in most cases, they are shown to be normal by DNA tests. However, the widespread application of these new techniques requires prior evaluation and general acceptance. This will only be obtained after public debate, education of professionals and the population, and the establishment of adequate non-directive genetic counselling services. Some of the points to be considered in setting up molecular genetics laboratories are described.

摘要

卫生部最近的一份报告提请人们注意DNA诊断在遗传性疾病方面的价值,以及在国民医疗服务体系中规划这些服务的必要性。预防医学有巨大潜力,但一项直接的主要益处是,有了新发现的能力,能够排除许多有患病风险者的携带者状态,并且在多数情况下,当通过DNA检测显示胎儿正常时,可避免其因被误诊而被堕胎。然而,这些新技术的广泛应用需要事先评估并得到普遍认可。只有经过公众辩论、对专业人员和民众进行教育,以及建立适当的非指导性遗传咨询服务后,才能实现这一点。文中还描述了建立分子遗传学实验室时需要考虑的一些要点。

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