An international survey of predictive genetic testing in children for adult onset conditions
An international survey of predictive genetic testing in children for adult onset conditions
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DOI：
10.1097/01.gim.0000170775.390921.44
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发表时间：
2005-07-01
影响因子：
8.8
通讯作者：
Delatycki, MB
中科院分区：
文献类型：
--
作者：
Duncan, RE;Savulescu, J;Delatycki, MB
目的：预测性基因检测提供给无症状的成年人，即使没有有效的预防或治疗。在类似情况下对年轻人进行基因检测是有争议的，指南建议不要这样做。我们试图记录在有指南的国家中出于非医疗原因对年轻人进行基因检测的描述性例子。研究方法：美国、加拿大、英国、澳大利亚和新西兰的临床遗传学家对无症状年轻人进行了关于无预防或治疗且通常在成年期发病的疾病的检测的发生和结果的调查。结果：在301份答复中，提供了49例进行此类检测的详细情况。最常见的测试条件是亨廷顿病。在22个案例中（45%），接受测试的年轻人是不成熟的，定义为14岁以下。结果只透露给两个不成熟的未成年人，在三个案例中，父母经历了临床上显着的焦虑，他们将如何传递信息给他们的基因阳性的孩子。在27例（55%）中，接受测试的年轻人是成熟的。向26名成年未成年人披露了结果，据报告，有2人发生了不良事件。未进行一致的随访，结果代表不良事件的最低频率。大多数受访者同意现有的指导方针，但许多人认为，每一个案件必须单独考虑。结论：临床医生同意关于年轻人预测性测试的现有指南，但在特定情况下选择提供非医学原因的测试。
Purpose: Predictive genetic testing is offered to asymptomatic adults even when there is no effective prophylaxis or treatment. Testing of young people in similar circumstances is controversial, and guidelines recommend against it. We sought to document descriptive examples of the occurrence of genetic testing in young people for nonmedical reasons, in the countries where guidelines exist. Methods: Clinical geneticists in the USA, Canada, UK, Australia, and New Zealand were surveyed about the occurrence and outcomes of testing in asymptomatic young people for conditions where no prophylaxis or treatment exists and onset is usually in adulthood. Results: Of 301 responses, details were provided of 49 cases where such testing had occurred. The most common condition tested for was Huntington Disease. In 22 cases (45%), the young person tested was immature, defined as under the age of 14 years. Results were disclosed to only two immature minors and in three cases parents experienced clinically significant anxiety related to how they would pass on information to their gene positive child. In 27 cases (55%), the young person tested was mature. Results were disclosed to 26 mature minors and it was reported that two individuals experienced an adverse event. Consistent follow-up did not take place and findings represent the minimum frequency of adverse events. The majority of respondents agree with existing guidelines but many believe each case must be considered individually. Conclusion: Clinicians agree with existing guidelines regarding predictive testing in young people, but choose to provide tests for nonmedical reasons in specific cases.