Attitudes toward presymptomatic testing in Huntington disease.
Attitudes toward presymptomatic testing in Huntington disease.
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对亨廷顿病症状前检测的态度。
DOI：
10.1002/ajmg.1320260205
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Berkman,B
中科院分区：
文献类型：
--
作者：
Mastromauro,C;Myers,RH;Berkman,B
131名遗传亨廷顿病（HD）风险为50%的个体接受了一项调查，以研究他们对基于遗传连锁DNA多态性鉴定进行基因检测的态度。96%的受访者认为应该提供症状前测试，66%的人表示他们自己会使用它。与单身、分居和离婚的人相比，已婚的人很少打算参加考试。许多受访者（40%）表示，他们希望接受测试的主要原因是结束生活中的不确定性。结果表明，测试的使用将存在自我选择，许多人认为测试结果呈阳性会导致抑郁或可能有自杀倾向，因此决定不接受测试或对测试不确定。然而，15%想要接受测试的人承认，如果他们是可能的基因携带者，他们可能有自杀的风险。只有12%的受访者表示他们可能会使用产前检测，这表明新英格兰的初始需求可能很低。症状前检测的实施对卫生保健提供者提出了挑战，要求他们制定战略，以照顾那些在发病前几年就得到诊断的健康人。
One hundred thirty‐one individuals at 50% risk of inheriting Huntington disease (HD) responded to a survey to study their attitudes toward taking a genetic test based on the identification of a genetically linked DNA polymorphism. Ninety‐six percent of the respondents believe that presymptomatic testing should be available, and 66% say they will use it themselves. Fewer married individuals, in comparison to those single, separated, and divorced, intend to take the test. Many respondents (40%) said their primary reason for wanting to be tested is to end the uncertainty in their lives. Results suggest that there will be self‐selection in test use, with many individuals who believe they will be depressed or possibly suicidal with a positive test result deciding not to be tested or unsure about testing. However, 15% of those who want to be tested acknowledge that they may be at risk for suicide if they are probable gene carriers. Only 12% of all respondents say they will be likely to use prenatal testing, suggesting that initial demand may be low in New England. Implementation of presymptomatic testing challenges health care providers to develop strategies to care for otherwise healthy persons who will be given a diagnosis years before the onset of illness.