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亨廷顿舞蹈症的预测性检测:对高危人群和专业人员的一项挑战。

Predictive testing for Huntington's disease: a challenge for persons at risk and for professionals.

作者信息

Evers-Kiebooms G, Decruyenaere M

机构信息

Psychosocial Genetics Unit, Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

出版信息

Patient Educ Couns. 1998 Sep;35(1):15-26. doi: 10.1016/s0738-3991(98)00086-x.

Abstract

About a decade ago the introduction of predictive testing for Huntington's disease (HD) was an important milestone in medical history. The aim of the present paper concerning predictive DNA-testing for HD is fourfold. First of all it describes the professional challenge of elaborating an adequate test protocol and of permanently using a multidisciplinary approach to deal with predictive test requests. Secondly the paper is aimed at unraveling the factors that play a part in uptake and decision making regarding predictive testing. Hereby the Health Belief Model is used as a framework for understanding differences between tested and untested persons. Thirdly the impact of the test result on psychological well-being is reviewed. Finally this paper assesses the utilisation of prenatal diagnosis after predictive testing for HD and reflects on the psychological and ethical implications of different types of prenatal tests, including preimplantation genetic diagnosis.

摘要

大约十年前,亨廷顿舞蹈症(HD)预测性检测的引入是医学史上的一个重要里程碑。本文关于HD预测性DNA检测的目的有四个方面。首先,它描述了制定适当检测方案以及始终采用多学科方法处理预测性检测请求所面临的专业挑战。其次,本文旨在揭示在预测性检测的接受和决策过程中发挥作用的因素。在此,健康信念模型被用作理解已检测者和未检测者之间差异的框架。第三,回顾检测结果对心理健康的影响。最后,本文评估了HD预测性检测后产前诊断的应用情况,并思考了不同类型产前检测(包括植入前基因诊断)的心理和伦理意义。

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