帕金森病国际遗传检测和咨询实践
Rachel Saunders-Pullman1,2, Deborah Raymond1,2, Roberto A Ortega1,2
1Department of Neurology, Mount Sinai Beth Israel, New York, New York, USA.
概括
对帕金森病 (PD) 的基因测试面临着全球的获取和教育障碍. 改善这些对公平的全球护理和研究进步至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 基因检测在帕金森病 (PD) 研究和临床实践中越来越多地使用.
- 直接向消费者提供的基因测试选择也越来越普遍用于PD.
研究的目的:
- 为绘制帕金森病遗传检测实践的全球地图.
- 确定障碍,并为PD遗传测试和咨询提供未来国际建议.
主要方法:
- 一个基于网络的调查被分发给了国际帕金森和运动障碍学会的成员.
- 该调查评估了当前的基因测试和咨询实践,担忧,并确定了障碍.
主要成果:
- 在全球范围内,基因检测和咨询的成本和获取是共同的挑战.
- 在测试和咨询的可用性方面,存在显著的区域差异,特别是在非洲.
- 遗传测试的保险覆盖范围各不相同,欧洲国家显示的比例高于泛美和亚洲国家.
结论:
- 全球范围内存在各种各样的阻碍基因检测和帕金森病咨询的障碍.
- 全球都有一个共同的,可行的需要,需要加强教育,改善全球对PD的遗传服务的获取.
更多相关视频
相关概念视频
01:24Parkinson's Disease: Treatment
303
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
303
01:15Parkinson's Disease: Overview
611
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
611