Worldwide barriers to genetic testing for movement disorders
Worldwide barriers to genetic testing for movement disorders
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DOI：
10.1111/ene.14826
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发表时间：
2021-04-09
影响因子：
5.1
通讯作者：
Jinnah, Hyder A.
中科院分区：
文献类型：
--
作者：
Gatto, Emilia M.;Walker, Ruth H.;Jinnah, Hyder A.
背景和目的尽管在识别导致许多神经系统疾病的遗传变异方面取得了巨大进展，但在临床实践中获得基因检测的机会可能有限。本研究的目的是评估世界范围内运动障碍基因检测的可及性以及影响其使用的因素。方法国际帕金森氏症与运动障碍学会罕见运动障碍研究组设计了一份电子邮寄给7815名成员的在线调查。结果来自109个国家的1269名参与者完成的调查数据进行了分析。据报道，与欧洲和北美相比，世界许多地区接触遗传学家和遗传咨询师的机会有限。基因检测的可获得性有限，获得率低于50%。对舞蹈病的基因检测是最常见的。与欧洲和北美相比，所有国家对帕金森病、肌紧张性障碍、共济失调、遗传性痉挛性截瘫和代谢性疾病进行基因检测的机会有限，非洲、中/南美洲和亚洲存在显著差异。在许多地区，基因检测由私人或公共资金支持。63.5%的受访者表示，基因检测在欧洲是免费的。在北美、非洲、中美洲/南美洲、亚洲和中东，获得免费基因检测的机会远远低于欧洲。这项调查突出了在世界范围内获得基因检测和具有遗传学专业知识的个人的困难。此外，还强调了世界各区域之间基因检测的主要差异，这可能是由于包括财政障碍在内的各种因素造成的。
Background and purpose Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization.Methods The Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.Results Survey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe.Conclusions This survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.