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首页> 外文期刊>Genetic testing and molecular biomarkers >To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk
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To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk

机译：知道还是不知道:更新的文学上的心理和行为影响阿尔茨海默病的基因测试风险

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摘要

Alzheimer disease (AD) is a genetically heterogenous disorder; in rare cases autosomal dominantly inherited mutations typically cause early-onset familial AD (EOAD), whereas the risk for late-onset AD (LOAD) is generally modulated by genetic variants with relatively low penetrance but high prevalence, with variants in apolipoprotein E (APOE) being a firmly established risk factor. This article presents an overview of the current literature on the psychological and behavioral impact of genetic testing for AD. The few studies available for presymptomatic testing for EOAD showed that only a very small proportion of individuals had poor psychological outcomes as a result. Initial interest in testing for EOAD decreases significantly after identification of a specific mutation in a kindred, suggesting that interest and potential for knowledge may not translate into actual testing uptake. The majority of individuals from both the general population and those with a family history of AD had positive attitudes towards, and were interested in, susceptibility testing for APOE. Motivations for genetic testing included to provide information for future planning and to learn about one's own and one's children's risks of developing AD. Although susceptibility testing for APOE genotype is not currently recommended due to the lack of clinical utility, this review demonstrates that there is interest in testing and no obvious adverse psychological effects to those who have been tested.
机译：阿尔茨海默病(AD)是一种基因异构障碍;通常居多的遗传突变引起早发性家族性广告(EOAD),而风险晚发性广告(负载)通常是调制通过遗传变异相对较低外显率,但高发,变异载脂蛋白E (APOE)坚定建立风险因素。当前文献的概述心理和行为影响的基因测试广告。测试EOAD发生前症状显示,只有一个非常小的比例的个人贫穷心理的结果。兴趣测试EOAD减少明显在一个特定的识别突变的家族,表明利息和潜在的知识可能不会翻译成实际测试吸收。从普通人群和个体那些广告有积极的家族病史态度,很感兴趣,APOE的敏感性测试。基因检测包括提供信息为未来规划和了解自己的和一个儿童发展中广告的风险。尽管敏感性测试APOE基因型目前不建议由于缺少吗临床效用,本文证明了这一点有兴趣测试和没有明显不良心理影响的人经过测试。

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