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亨廷顿舞蹈症的预测性检测。

Predictive testing for Huntington's disease.

作者信息

Tibben Aad

机构信息

Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

出版信息

Brain Res Bull. 2007 Apr 30;72(2-3):165-71. doi: 10.1016/j.brainresbull.2006.10.023. Epub 2006 Nov 9.

Abstract

Worldwide, predictive testing for Huntington's disease has become an accepted clinical application that has allowed many individuals from HD-families to proceed with their life without the uncertainty of being at risk. International guidelines have extensively contributed to establishing counselling programmes of high quality, and have served as a model for other genetic disorders. Psychological follow-up studies have increased the insight into the far-reaching impact of test results for all individuals involved. Although the guidelines have served as a useful frame of reference, clinical experience has shown the importance of a case-by-case approach to do justice to the specific needs of the individual test candidate. Issues such as ambiguous test results, lack of awareness in a test candidate of early signs of the disease, non-compliance to the test protocol, or the test candidate's need for information on the relationship between age at onset and CAG-repeat require careful consideration. Receiving a test result is only one of the transition points in the life of an individual at risk; such result needs to be valued from a life-cycle perspective.

摘要

在全球范围内,亨廷顿舞蹈症的预测性检测已成为一种被认可的临床应用,它让许多来自亨廷顿舞蹈症家族的人能够在没有患病风险不确定性的情况下继续生活。国际指南为建立高质量的咨询项目做出了广泛贡献,并为其他遗传疾病树立了典范。心理随访研究加深了我们对检测结果对所有相关个体产生的深远影响的认识。尽管这些指南提供了有用的参考框架,但临床经验表明,采取个案处理方法以满足个体检测对象的特定需求非常重要。诸如检测结果不明确、检测对象对疾病早期症状缺乏认识、不遵守检测方案,或者检测对象需要了解发病年龄与CAG重复序列之间的关系等问题,都需要仔细考虑。获得检测结果只是有患病风险个体生命中的一个转折点;需要从生命周期的角度来评估这样的结果。

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