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亨廷顿舞蹈症症状前检测中的伦理和社会问题:一项欧洲共同体合作研究。欧洲共同体亨廷顿舞蹈症合作研究小组

Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group.

出版信息

J Med Genet. 1993 Dec;30(12):1028-35. doi: 10.1136/jmg.30.12.1028.

Abstract

An analysis of social and ethical aspects of presymptomatic testing for Huntington's disease has been carried out, based on data on linked DNA markers, from four major testing centres in different European Community countries (Belgium, Italy, Netherlands, and United Kingdom). Information was available on 603 applicants, with 213 final results given, of which 32% gave an increased risk. A series of specific issues and problems were documented systematically for all applicants, results being given on frequency of occurrence and illustrated by individual case histories. The principal issues could be grouped as problems of inappropriate referral, problems involving relatives, and problems relating to disclosure of results. At least one important problem was encountered in 46% of applicants, emphasising the importance of expert counselling, preparation, and support of applicants, and of close liaison between clinical, counselling, and laboratory staff. The extensive and detailed information available for Huntington's disease from this and other studies will be of considerable value in relation to genetic testing for other late onset genetic disorders and will be even more relevant to Huntington's disease now that specific mutation analysis is possible for this disorder.

摘要

基于来自不同欧洲共同体国家(比利时、意大利、荷兰和英国)四个主要检测中心的连锁DNA标记数据,对亨廷顿舞蹈症症状前检测的社会和伦理方面进行了分析。有603名申请者的信息,给出了213份最终结果,其中32%显示患病风险增加。针对所有申请者系统记录了一系列具体问题,给出了问题出现的频率,并通过个人病史进行说明。主要问题可归为不适当转诊问题、涉及亲属的问题以及结果披露问题。46%的申请者至少遇到一个重要问题,这凸显了为申请者提供专业咨询、准备和支持以及临床、咨询和实验室工作人员之间密切联络的重要性。这项研究以及其他研究中可获取的关于亨廷顿舞蹈症的广泛而详细的信息,对于其他迟发性遗传疾病的基因检测将具有相当大的价值,而且鉴于现在可以对这种疾病进行特定突变分析,这些信息对亨廷顿舞蹈症来说更为相关。

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