Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.
Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.
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DOI：
10.1097/gim.0b013e31821d69b8
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发表时间：
2011-06
期刊：
影响因子：
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通讯作者：
American College of Medical Genetics and the National Society of Genetic Counselors
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文献类型：
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作者：
Goldman JS;Hahn SE;Catania JW;LaRusse-Eckert S;Butson MB;Rumbaugh M;Strecker MN;Roberts JS;Burke W;Mayeux R;Bird T;American College of Medical Genetics and the National Society of Genetic Counselors
阿尔茨海默病是痴呆症最常见的原因。它发生在世界各地，影响到所有民族。阿尔茨海默病的发病率正在增加，部分原因是预期寿命的延长和婴儿潮一代的老龄化。罹患阿尔茨海默病的平均终身风险为10%-12%。如果有这种疾病的一级亲属在场，这种风险至少会增加一倍。尽管其效用有限，但患者对自己的风险表示担忧，在某些情况下，还会要求进行检测。此外，研究表明，在某些情况下，对个体进行载脂蛋白E检测是有价值的，也是安全的。然而，由于阿尔茨海默病的复杂遗传性质，很少有临床医生准备与他们的患者一起解决阿尔茨海默病的遗传风险。由于家族史运动提高了人们对家族史的认识，阿尔茨海默病的发病率不断增加，消费者可以直接进行检测，患者对信息的要求也在增加。该实践指南为临床医生提供了一个框架，用于评估他们的患者阿尔茨海默病的遗传风险，确定哪些个人可能从基因测试中受益，并提供阿尔茨海默病遗传咨询的关键要素。
Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10–12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apoli-poprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients’ genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.