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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| Vydáno v: | European journal of neurology Ročník 28; číslo 6; s. 1901 - 1909 |
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| Hlavní autoři: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
| Vydáno: |
England
John Wiley & Sons, Inc
01.06.2021
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| ISSN: | 1351-5101, 1468-1331, 1468-1331 |
| On-line přístup: | Získat plný text |
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| 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.
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. |
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| AbstractList | Background and purposeDespite 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.MethodsThe Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.ResultsSurvey 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.ConclusionsThis 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. 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. 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. The Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members. 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. 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. 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.BACKGROUND AND PURPOSEDespite 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.The Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.METHODSThe Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.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.RESULTSSurvey 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.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.CONCLUSIONSThis 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. |
| Author | Cardoso, Francisco Kaji, Ruyji Rodríguez‐Violante, Mayela Gross, Kenneth B.V. Schoels, Ludger Pal, Pramod Ganos, Christos Jinnah, Hyder A. Josep Martí, Maria Correia Guedes, Leonor Fung, Victor Chesta, Daniela Muñoz Cossu, Giovanni Stamelou, Maria Canals, Francisca Chade, Anabel Darling, Alejandra Cardozo, Adriana Friedman, Jennifer Gonzalez, Claudio Albanese, Alberto Stephen, Christopher D. Rosa, Andres Lescano Da Rodriguez‐Porcel, Federico Bhatia, Kailash De la Cerda, Andrés Gershanik, Oscar Peralta, María Cecilia Ruiz, Pedro Garcia Jankovic, Joseph Maria Riboldi, Giulietta Balint, Bettina Della Coletta, Marcus V Han‐Joon, Kim Morgante, Francesca Etcheverry, Jose Amorin, Ignacio Gatto, Emilia M. Carvalho, Vanessa Chana, Pedro Miyasaki, Janis Martinez Ramirez, Daniel Marano, Massimo Lubarr, Naomi Sarva, Harini Oroz, María Cruz Rodríguez Uribe Roca, Claudia Ferreira, Joaquim Espay, Alberto Litvan, Irene Münchau, Alexander Cesarini, Martin Kotschet, Katya Walker, Ruth H. Brandabur, Melanie Duquette, Antoine de Koning‐Tijssen, Marina Phielipp, |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33730413$$D View this record in MEDLINE/PubMed |
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| ContentType | Journal Article |
| Contributor | Cardoso, Francisco Kaji, Ruyji Maria Riboldi, Giulietta Della Coletta, Marcus V Etcheverry, Jose Amorin, Ignacio Schoels, Ludger Pal, Pramod Ganos, Christos Carvalho, Vanessa Chana, Pedro Miyasaki, Janis Martinez Ramirez, Daniel Rodriguez-Porcel, Federico Han-Joon, Kim Marano, Massimo Josep Martí, Maria Correia Guedes, Leonor Lubarr, Naomi Sarva, Harini Fung, Victor Chesta, Daniela Muñoz Oroz, María Cruz Rodríguez Uribe Roca, Claudia Ferreira, Joaquim Espay, Alberto Gross, Kenneth B V Litvan, Irene Stamelou, Maria Canals, Francisca Chade, Anabel Darling, Alejandra Cardozo, Adriana Münchau, Alexander Friedman, Jennifer de Koning-Tijssen, Marina Albanese, Alberto Kotschet, Katya Rosa, Andres Lescano Da Bhatia, Kailash De la Cerda, Andrés Gershanik, Oscar Brandabur, Melanie Peralta, María Cecilia Ruiz, Pedro Garcia Duquette, Antoine Phielipp, Nicolás |
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| Copyright | 2021 The Authors. published by John Wiley & Sons Ltd on behalf of European Academy of Neurology 2021 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. 2021. This article is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. |
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| Keywords | Parkinson's disease dystonia genetic testing chorea genetic and inherited disorders genetic diagnosis movement disorders whole exome sequencing |
| Language | English |
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| Notes | 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 , . 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 1 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 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 |
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Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be... Despite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical... Background and purposeDespite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be... |
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| SubjectTerms | 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 |
| Title | Worldwide barriers to genetic testing for movement disorders |
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