Worldwide barriers to genetic testing for movement disorders. (9th April 2021)

• Record Type: Journal Article
• Authors: Gatto, Emilia M.; Walker, Ruth H.; Gonzalez, Claudio; Cesarini, Martin; Cossu, Giovanni; Stephen, Christopher D.; Balint, Bettina; Rodríguez‐Violante, Mayela; Jankovic, Joseph; Morgante, Francesca; Jinnah, Hyder A.
• Other Names: Albanese Alberto investigator.; Amorin Ignacio investigator.; Bhatia Kailash investigator.; Brandabur Melanie investigator.; Canals Francisca investigator.; Cardoso Francisco investigator.; Cardozo Adriana investigator.; Carvalho Vanessa investigator.; Chade Anabel investigator.; Chana Pedro investigator.; Darling Alejandra investigator.; Correia Guedes Leonor investigator.; De la Cerda Andrés investigator.; de Koning‐Tijssen Marina investigator.; Della Coletta Marcus V investigator.; Duquette Antoine investigator.; Espay Alberto investigator.; Etcheverry Jose investigator.; Ferreira Joaquim investigator.; Friedman Jennifer investigator.; Fung Victor investigator.; Ganos Christos investigator.; Ruiz Pedro Garcia investigator.; Gershanik Oscar investigator.; Gross Kenneth B.V. investigator.; Han‐Joon Kim investigator.; Kaji Ruyji investigator.; Kotschet Katya investigator.; Rosa Andres Lescano Da investigator.; Litvan Irene investigator.; Lubarr Naomi investigator.; Marano Massimo investigator.; Josep Martí Maria investigator.; Martinez Ramirez Daniel investigator.; Miyasaki Janis investigator.; Münchau Alexander investigator.; Chesta Daniela Muñoz investigator.; Pal Pramod investigator.; Peralta María Cecilia investigator.; Phielipp Nicolás investigator.; Maria Riboldi Giulietta investigator.; Oroz María Cruz Rodríguez investigator.; Rodriguez‐Porcel Federico investigator.; Sarva Harini investigator.; Schoels Ludger investigator.; Stamelou Maria investigator.; Uribe Roca Claudia investigator.;
• Is Part Of: European journal of neurology. Volume 28:Number 6(2021)
• Page Start: 1901
• Page End: 1909
• Publication Date: 2021-04-09
• Subjects: chorea -- dystonia -- genetic and inherited disorders -- genetic diagnosis -- genetic testing -- movement disorders -- Parkinson's disease -- whole exome sequencing; Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.14826
• Languages: English
• ISSNs: 1351-5101

Abstract

Abstract: 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. Abstract : In this online survey designed by the Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society, worldwide access to genetic tests for movement disorders and factors impacting their utilization were investigated. Access to geneticists and genetic counsellors as well as to genetic testing for movement disorders was limited at worldwide level, with significant differences in most world regions compared to Europe and North America. Our results highlight major disparities in accessing genetic testing and experts in genetics amongst world regions, probably due to a variety of factors including financial barriers.