ATTITUDES TOWARD DIRECT PREDICTIVE TESTING FOR THE HUNTINGTON DISEASE GENE - RELEVANCE FOR OTHER ADULT-ONSET DISORDERS
ATTITUDES TOWARD DIRECT PREDICTIVE TESTING FOR THE HUNTINGTON DISEASE GENE - RELEVANCE FOR OTHER ADULT-ONSET DISORDERS
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DOI：
10.1001/jama.270.19.2321
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发表时间：
1993-11-17
影响因子：
120.7
通讯作者：
HAYDEN, MR
中科院分区：
文献类型：
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作者：
BABUL, R;ADAM, S;HAYDEN, MR
目标。目的：评估有亨廷顿病（HD）风险的个体对直接突变检测的态度和预期使用情况。在克隆HD基因之前，一份关于使用最终测试的问卷被构建并邮寄给了加拿大HD合作研究的354名参与者。共收到250名参与者填写的问卷（回复率71%）。人们被要求表明他们是否会参加一项新的预测测试，该测试要么100%准确（只需要先证者的血液），要么只有99%准确。-大多数（72%）以前在预测测试程序中收到结果的人表示，无论在哪种情况下，他们都会要求进行测试。与99%准确测试相比，更多的人会要求进行确定性测试(72% vs 58%； P
Objective.-To assess attitudes toward, and projected utilization of, direct mutation testing by individuals at risk for Huntington disease (HD).Design.-Prior to the cloning of the gene for HD, a questionnaire concerning the use of a definitive test was constructed and mailed to 354 participants in the Canadian Collaborative Study for HD. Completed questionnaires were received from 250 participants (response rate, 71%). Persons were asked to indicate whether they would participate in a new predictive test that was either 100% accurate (the definitive test, requiring blood only from the proband) or only 99% accurate.Results.-Most (72%) of the persons who had previously received a result in a predictive testing program said they would request testing in either situation. Significantly more persons would request the definitive test than the 99% accurate test (72% vs 58%; P