Department of Neurology, Mount Sinai Beth Israel, New York, New York, USA.
Icahn School of Medicine, Mount Sinai, New York, New York, USA.
Mov Disord. 2023 Aug;38(8):1527-1535. doi: 10.1002/mds.29442. Epub 2023 Jun 13.
There is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct-to-consumer testing.
The aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations.
A web-based survey assessing current practices, concerns, and barriers to genetic testing and counseling was administered to the International Parkinson and Movement Disorders Society membership.
Common hurdles across sites included cost and access to genetic testing, and counseling, as well as education on genetic counseling. Region-dependent differences in access to and availability of testing and counseling were most notable in Africa. High-income countries also demonstrated heterogeneity, with European nations more likely to have genetic testing covered through insurance than Pan-American and Asian countries.
This survey highlights not only diversity of barriers in different regions but also the shared and highly actionable needs for improved education and access to genetic counseling and testing for PD worldwide. © 2023 International Parkinson and Movement Disorder Society.
在帕金森病（PD）中，越来越多的临床和研究利用了基因检测，包括直接面向消费者的检测。
旨在确定 PD 中基因检测的国际情况，为未来的全球建议提供信息。
我们向国际帕金森病和运动障碍协会的会员进行了一项基于网络的调查，评估了基因检测和咨询的当前实践、关注点和障碍。
各站点的共同障碍包括基因检测和咨询的成本和可及性，以及遗传咨询方面的教育。在非洲，基因检测和咨询的可及性和可用性存在明显的区域差异。高收入国家也表现出异质性，欧洲国家通过保险覆盖基因检测的可能性高于泛美和亚洲国家。
这项调查不仅突出了不同地区障碍的多样性，还强调了全球范围内改善 PD 遗传咨询和检测的教育和可及性的共同和高度可操作的需求。
