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Worldwide barriers to genetic testing for movement disorders.

Gatto, EM; Walker, RH; Gonzalez, C; Cesarini, M; Cossu, G; Stephen, CD; Balint, B; Rodriguez Violante, M; Jankovic, J; Morgante, F; et al. Gatto, EM; Walker, RH; Gonzalez, C; Cesarini, M; Cossu, G; Stephen, CD; Balint, B; Rodriguez Violante, M; Jankovic, J; Morgante, F; Jinnah, HA; Rare Movement Disorders Study Group of the International Parkins (2021) Worldwide barriers to genetic testing for movement disorders. Eur J Neurol, 28 (6). pp. 1901-1909. ISSN 1468-1331 https://doi.org/10.1111/ene.14826
SGUL Authors: Morgante, Francesca

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Abstract

BACKGROUND: Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing access to genetic testing may be limited in clinical practice. OBJECTIVES: 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 analyzed. 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 either by 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 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, we highlighted major disparities in genetic testing among world regions, likely due to a variety of factors including financial barriers.

Item Type: Article
Additional Information: © 2021 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
Keywords: Chorea, Dystonia, Genetic and inherited disorders, Movement disorders, Parkinson’s disease, genetic diagnosis, genetic testing, whole exome sequencing, Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society, Chorea, Dystonia, Genetic and inherited disorders, Movement disorders, Parkinson’s disease, genetic diagnosis, genetic testing, whole exome sequencing, 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Eur J Neurol
ISSN: 1468-1331
Language: eng
Dates:
DateEvent
15 May 2021Published
9 April 2021Published Online
12 March 2021Accepted
Publisher License: Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0
PubMed ID: 33730413
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/113091
Publisher's version: https://doi.org/10.1111/ene.14826

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