Worldwide barriers to genetic testing for movement disorders

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 i...

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Published in:European journal of neurology Vol. 28; no. 6; pp. 1901 - 1909
Main 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., Albanese, Alberto, Amorin, Ignacio, Bhatia, Kailash, Brandabur, Melanie, Canals, Francisca, Cardoso, Francisco, Cardozo, Adriana, Carvalho, Vanessa, Chade, Anabel, Chana, Pedro, Darling, Alejandra, Correia Guedes, Leonor, De la Cerda, Andrés, de Koning‐Tijssen, Marina, Della Coletta, Marcus V, Duquette, Antoine, Espay, Alberto, Etcheverry, Jose, Ferreira, Joaquim, Friedman, Jennifer, Fung, Victor, Ganos, Christos, Ruiz, Pedro Garcia, Gershanik, Oscar, Gross, Kenneth B.V., Han‐Joon, Kim, Kaji, Ruyji, Kotschet, Katya, Rosa, Andres Lescano Da, Litvan, Irene, Lubarr, Naomi, Marano, Massimo, Josep Martí, Maria, Martinez Ramirez, Daniel, Miyasaki, Janis, Münchau, Alexander, Chesta, Daniela Muñoz, Pal, Pramod, Peralta, María Cecilia, Phielipp, Nicolás, Maria Riboldi, Giulietta, Oroz, María Cruz Rodríguez, Rodriguez‐Porcel, Federico, Sarva, Harini, Schoels, Ludger, Stamelou, Maria, Uribe Roca, Claudia
Format: Journal Article
Language:English
Published: England John Wiley & Sons, Inc 01.06.2021
Subjects:
Ataxia
Basal ganglia
Central nervous system diseases
Chorea
Dystonia
genetic and inherited disorders
Genetic counseling
genetic diagnosis
Genetic diversity
Genetic screening
Genetic testing
Genetic variance
Genetics
Hereditary spastic paraplegia
Metabolic disorders
Movement disorders
Neurological diseases
Parkinson's disease
Polls & surveys
whole exome sequencing
South America
Asia
North America
Europe
Africa
Parkinson's disease
dystonia
genetic testing
chorea
genetic and inherited disorders
genetic diagnosis
movement disorders
whole exome sequencing
ISSN:1351-5101, 1468-1331, 1468-1331
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Summary: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. 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.
Bibliography:Funding information
from Springer; member of the editorial board of
Morgante and Jinnah share senior authorship.
The Rare Movement Disorders Study Group of the International Parkinson Disease and Movement Disorders Society members are listed in Appendix
Movement Disorders
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Martin Cesarini has received research funding from Roche—CHDI foundation ENROLL HD. Giovanni Cossu: Speaking honoraria from UCB Pharma, Bial, AbbVie, Zambon, Boston. Research support from Fondazione di Sardegna. Dr Stephen reports grants from Sanofi‐Genzyme, personal fees from Xenon Pharmaceuticals and SwanBio Pharma. He has received financial support from Sanofi‐Genzyme, Biogen and Biohaven for the conduct of clinical trials. Dr Rodriguez‐Violante reports personal fees from UCB, personal fees from Ever Neuropharma, grants from Medtronic. Joseph Jankovic has received research/training funding from 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. Dr Jankovic has served as a consultant for Aeon BioPharma; Nuvelution Pharma Inc; Teva Pharmaceutical Industries Ltd. Dr Jankovic has received royalties from Cambridge; Elsevier; Medlink: Neurology; Lippincott Williams and Wilkins; Wiley‐Blackwell. Francesca Morgante: Speaking honoraria from Abbvie, Medtronic, Zambon, Bial, Merz; travel grants from the International Parkinson's Disease and Movement Disorder Society; advisory board fees from Merz; consultancy fees from Boston Scientific, Merz and Bial; research support from Boston Scientific, Merz and Global Kynetic; royalties for the book
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Disorders of Movement
European Journal of Neurology
H. A. Jinnah has active or recent grant support from the US government (National Institutes of Health), private philanthropic organizations (Cure Dystonia Now), academically oriented institutions (the Dystonia Study Group) and industry (Cavion Therapeutics, Retrophin Inc.). Dr Jinnah has also served on advisory boards or as a consultant for Allergan Inc., CoA Therapeutics, Cavion Therapeutics and Retrophin Inc. He has received honoraria or stipends for lectures or administrative work from the American Academy of Neurology, the American Neurological Association, the Dystonia Medical Research Foundation, the International Neurotoxin Society and the International Parkinson's Disease and Movement Disorders Society. Dr Jinnah serves on the Scientific Advisory Boards for several private foundations including the Benign Essential Blepharospasm Research Foundation, Cure Dystonia Now, the Dystonia Medical Research Foundation, the Tourette Association of America, and Tyler's Hope for a Cure. He also is principal investigator for the Dystonia Coalition, which has received the majority of its support through the NIH (grants NS116025, NS065701 from the National Institutes of Neurological Disorders and Stroke, TR 001456 from the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences). Ruth H Walker has received consulting fees from Neurocrine Biosciences Inc., Teladoc Health Inc., and honoraria from the International Parkinson Disease and Movement Disorders Society and the International Association of Parkinsonism and Related Disorders. Emilia Gatto, had received research funding from Roche—CHDI Foundation ENROLL HD, consulting fees from Bago Argentina, Europharma, Casasco, and honoraria from the International Parkinson Disease and Movement Disorders Society. Claudio Gonzalez and Bettina Balint do not have anything to disclose.
Movement Disorders Clinical Practice
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ISSN:1351-5101
1468-1331
1468-1331
DOI:10.1111/ene.14826