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亨廷顿舞蹈症的症状前检测

Presymptomatic testing for Huntington's disease.

作者信息

Bird S J

出版信息

JAMA. 1985 Jun 14;253(22):3286-91.

PMID:3158756
Abstract

Recombinant DNA technology has made possible the identification of a DNA marker for Huntington's disease (HD). In spite of limitations to a presymptomatic test based on this work, and a variety of ethical and policy concerns associated with presymptomatic testing in general, it is likely that such a testing program can and will soon be developed. Its impact needs to be carefully considered by the health care community and policymakers. A presymptomatic test for HD is sought by those at risk and should be made available with proper safeguards to protect confidentiality. Given its potential impact, testing should be offered in a setting that provides diverse and continuing support. Research institutions with a variety of counseling programs, health care professionals, HD lay organizations, and society at large can work together to develop programs that provide the support necessary for responsible, autonomous decision making.

摘要

重组DNA技术使得鉴定亨廷顿舞蹈症(HD)的DNA标记成为可能。尽管基于这项工作的症状前检测存在局限性,且一般而言与症状前检测相关的伦理和政策问题繁多,但这样的检测项目很可能能够且即将被开发出来。医疗保健界和政策制定者需要仔细考虑其影响。有患病风险的人寻求HD的症状前检测,应在采取适当保障措施以保护隐私的情况下提供检测。鉴于其潜在影响,检测应在能提供多样化且持续支持的环境中进行。拥有各种咨询项目的研究机构、医疗保健专业人员、HD患者组织以及整个社会可以共同努力,制定出能为负责任的自主决策提供必要支持的项目。

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