Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future

被引:22
|
作者
Goldman, Jill S. [1 ]
机构
[1] Columbia Univ, Dept Neurol, Vagelos Coll Med, Taub Inst Res Alzheimers Dis & Aging Brain, New York, NY 10032 USA
来源
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE | 2020年 / 10卷 / 07期
关键词
AMYOTROPHIC-LATERAL-SCLEROSIS; POLYGENIC RISK SCORE; HUNTINGTONS-DISEASE; ALZHEIMERS-DISEASE; APOLIPOPROTEIN-E; FRONTOTEMPORAL DEMENTIA; MEMORY PERFORMANCE; REPEAT EXPANSION; APOE GENOTYPE; SUSCEPTIBILITY;
D O I
10.1101/cshperspect.a036525
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Predictive genetic counseling for neurodegenerative diseases commenced with Huntington's disease (HD). Because the psychological issues and outcomes have been best studied in HD, the HD genetic counseling and testing protocol is still accepted as the gold standard for genetic counseling for these diseases. Yet, advances in genomic technology have produced an abundance of new information about the genetics of diseases such as Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease. The resulting expansion of genetic tests together with the availability of direct-to-consumer testing and clinical trials for treatment of these diseases present new ethical and practical issues requiring modifications to the protocol for HD counseling and new demands on both physicians and genetic counselors. This work reviews the history of genetic counseling for neurodegenerative diseases, its current practice, and the future direction of genetic counseling for these conditions.
引用
收藏
页码:1 / 15
页数:15
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