Yeow Dennis, Rudaks Laura I, Kumar Kishore R
Neurology Department and Molecular Medicine Laboratory, Concord Repatriation General Hospital.
Faculty of Medicine and Health, University of Sydney.
Curr Opin Neurol. 2025 Aug 1;38(4):355-360. doi: 10.1097/WCO.0000000000001381. Epub 2025 May 21.
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.
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.
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.
在过去几十年中,已知的遗传性运动障碍的数量以及针对这些疾病的潜在治疗方法迅速增加。尽管如此,运动障碍的基因检测在临床实践中的应用仍然相对不足。在本综述中,我们探讨了一些阻碍运动障碍基因检测更常规、更广泛应用的障碍。
成本和有限的医疗保险覆盖范围,以及获取基因检测和咨询的困难,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知识有限,以及患者和临床医生对基因歧视可能性的担忧,是进一步的障碍。尽管存在这些障碍,但最近的几项国际合作研究表明,大规模开展运动障碍的临床基因检测和遗传咨询是可行的。
需要在多个组织层面(政府、专业协会、医疗保险组织等)采取协调行动,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率。