期刊
EUROPEAN JOURNAL OF NEUROLOGY
卷 28, 期 6, 页码 1901-1909出版社
WILEY
DOI: 10.1111/ene.14826
关键词
chorea; dystonia; genetic and inherited disorders; genetic diagnosis; genetic testing; movement disorders; Parkinson' s disease; whole exome sequencing
资金
- Roche-CHDI foundation ENROLL HD
- Fondazione di Sardegna
- Sanofi-Genzyme
- Biogen
- Biohaven
- Medtronic
- AbbVie Inc.
- Acadia Pharmaceuticals
- Allergan Inc.
- Biotek
- Cerevel Therapeutics
- CHDI Foundation
- Dystonia Coalition
- Emalex Biosciences Inc.
- F. Hoffmann-La Roche Ltd
- Huntington Study Group
- Medtronic Neuromodulation
- Merz Pharmaceuticals
- Michael J Fox Foundation for Parkinson Research
- National Institutes of Health
- Neuraly Inc.
- Neurocrine Biosciences
- Parkinson's Foundation
- Parkinson Study Group
- Prilenia Therapeutics
- Revance Therapeutics Inc.
- Teva Pharmaceutical Industries Ltd.
- International Parkinson's Disease and Movement Disorder Society
- Boston Scientific
- Merz and Global Kynetic
- US government (National Institutes of Health)
- Cure Dystonia Now
- Dystonia Study Group
- Cavion Therapeutics, Retrophin Inc.
- NIH from the National Institutes of Neurological Disorders and Stroke [NS116025, NS065701]
- NIH from the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences [TR 001456]
This study assessed global access to genetic testing for movement disorders and found limited availability in many regions compared to Europe and North America. Rates of access to genetic testing were below 50%, with Europe having the highest rate of free genetic testing. Major disparities in genetic testing access were highlighted among different world regions.
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.
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