运动障碍临床基因检测的障碍。

IF 4.1 2区 医学 Q1 CLINICAL NEUROLOGY
Dennis Yeow, Laura I Rudaks, Kishore R Kumar
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引用次数: 0

摘要

回顾目的:在过去的几十年里,已知的遗传性运动障碍的数量和这些疾病的潜在治疗方法迅速增长。尽管如此,运动障碍的基因检测在临床实践中仍然相对不足。在这篇综述中,我们探讨了一些阻碍运动障碍基因检测更常规和广泛使用的障碍。最近的调查结果:费用和有限的医疗保险覆盖面以及难以获得基因检测和咨询是基因检测的主要障碍,对低收入和中等收入国家以及特定社会人口群体的影响尤为严重。临床医生对运动障碍基因检测的误解和有限的知识,以及患者和临床医生对潜在的基因歧视的担忧是进一步的障碍。尽管存在这些障碍,最近的几项国际合作研究已经证明了大规模提供运动障碍临床基因检测和遗传咨询的可行性。摘要:需要在多个组织层面(政府、专业协会、健康保险组织等)采取协调一致的行动,以解决已确定的障碍,并在全球范围内提高运动障碍基因检测的利用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Barriers to clinical genetic testing in movement disorders.

Purpose of review: The number of known genetic movement disorders and potential treatments for these disorders have grown rapidly over the last few decades. Despite this, genetic testing for movement disorders remains relatively underutilized in clinical practice. In this review, we explore a number of barriers that prevent more routine and widespread use of genetic testing for movement disorders.

Recent findings: Cost and limited health insurance coverage as well as difficulty accessing genetic testing and counselling are major barriers to genetic testing and disproportionately affect low- and middle-income countries and specific sociodemographic groups. Clinician misperceptions and limited knowledge about genetic testing for movements disorders as well as patient and clinician concerns about the potential for genetic discrimination are further obstacles. Despite these barriers, several recent international collaborative studies have demonstrated the feasibility of delivering clinical genetic testing and genetic counselling for movement disorders on a large scale.

Summary: Concerted action at multiple organizational levels (government, specialty societies, health insurance organizations, etc.) is required in order to address the identified barriers and improve utilization of genetic testing in movement disorders on a global scale.

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来源期刊
Current Opinion in Neurology
Current Opinion in Neurology 医学-临床神经学
CiteScore
8.60
自引率
0.00%
发文量
174
审稿时长
6-12 weeks
期刊介绍: ​​​​​​​​Current Opinion in Neurology is a highly regarded journal offering insightful editorials and on-the-mark invited reviews; covering key subjects such as cerebrovascular disease, developmental disorders, neuroimaging and demyelinating diseases. Published bimonthly, each issue of Current Opinion in Neurology introduces world renowned guest editors and internationally recognized academics within the neurology field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.
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