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神经退行性疾病的基因检测:伦理和健康沟通的挑战。

Genetic testing for neurodegenerative diseases: Ethical and health communication challenges.

机构信息

Department of Health Behavior & Health Education, University of Michigan School of Public Health, United States of America.

University of Michigan School of Public Health, United States of America.

出版信息

Neurobiol Dis. 2020 Jul;141:104871. doi: 10.1016/j.nbd.2020.104871. Epub 2020 Apr 14.

Abstract

Advances in genomic science are informing an expansion of genetic testing for neurodegenerative diseases, which can be used for diagnostic and predictive purposes and performed in both medical and consumer genomics settings. Such testing-which is often for severe and incurable conditions like Huntington's, Alzheimer's, and Parkinson's diseases-raises important ethical and health communication challenges. This review addresses such challenges in the contexts of clinical, research, and direct-to-consumer genetic testing; these include informed consent, risk estimation and communication, potential benefits and psychosocial harms of genetic information (e.g., genetic discrimination), access to services, education and workforce needs, and health policies. The review also highlights future areas of likely growth in the field, including polygenic risk scores, use of genetic testing in clinical trials, and return of individual research results.

摘要

基因组科学的进步正在推动神经退行性疾病基因检测的扩展,这种检测可用于诊断和预测目的,并在医学和消费者基因组学环境中进行。这种检测——通常用于亨廷顿氏病、阿尔茨海默病和帕金森病等严重且无法治愈的疾病——带来了重要的伦理和健康传播方面的挑战。这篇综述在临床、研究和直接面向消费者的基因检测背景下探讨了这些挑战;其中包括知情同意、风险评估和沟通、遗传信息的潜在益处和心理社会危害(例如遗传歧视)、获得服务、教育和劳动力需求以及卫生政策。该综述还强调了该领域未来可能的增长领域,包括多基因风险评分、临床试验中基因检测的使用以及个体研究结果的回报。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/430c/7311284/cc99ba82380a/nihms-1590976-f0001.jpg

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