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亨廷顿病高危人群进行预测性检测的预期用途。

Intended use of predictive testing by those at risk for Huntington disease.

作者信息

Meissen G J, Berchek R L

出版信息

Am J Med Genet. 1987 Feb;26(2):283-93. doi: 10.1002/ajmg.1320260206.

Abstract

Huntington disease (HD) is a late-onset genetic disorder that is incurable and undetectable until the onset of symptoms. A marker for the gene that causes HD was recently discovered that will lead to a predictive test. The purpose of this research was to assess the attitudes, beliefs, and behavioral intentions concerning the impending predictive test by those at risk for HD. Results from a sample of 56 at-risk individuals indicated that a majority (65%) favored using the presymptomatic test and would encourage their adult children to use it as well. Fewer but still a substantial percentage of respondents would use the prenatal test (42%) and would test at-risk minors (35%). Surprisingly, knowledge about predictive testing was quite low and a majority of those least knowledgeable about predictive testing intended to use the test. These findings emphasized the need for outreach and prevention efforts to prepare the at risk and specialized programs of genetic counseling and follow up to accompany predictive testing.

摘要

亨廷顿舞蹈症(HD)是一种迟发性遗传疾病,在症状出现之前无法治愈且难以检测。最近发现了一种导致亨廷顿舞蹈症的基因标记,这将带来一种预测性检测。本研究的目的是评估有患亨廷顿舞蹈症风险的人群对即将到来的预测性检测的态度、信念和行为意向。对56名有风险个体的抽样调查结果表明,大多数人(65%)赞成进行症状前检测,并会鼓励他们的成年子女也进行检测。较少但仍有相当比例的受访者会进行产前检测(42%),并会对有风险的未成年人进行检测(35%)。令人惊讶的是,对预测性检测的了解程度相当低,而且大多数对预测性检测了解最少的人打算进行检测。这些发现强调了开展宣传和预防工作的必要性,以便让有风险的人群做好准备,并提供遗传咨询和后续跟进的专门项目,以配合预测性检测。

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