Emilia M Gatto1, Ruth H Walker2,3, Claudio Gonzalez4, Martin Cesarini5, Giovanni Cossu6, Christopher D Stephen7, Bettina Balint8, Mayela Rodríguez-Violante9, Joseph Jankovic10, Francesca Morgante11,12, Hyder A Jinnah13. 1. Department of Neurology, Affiliated University of Buenos Aires, Buenos Aires, Argentina. 2. Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA. 3. Department of Neurology, Mount Sinai School of Medicine, New York City, NY, USA. 4. School of Medicine, Instituto Universitario CEMIC, Buenos Aires, Argentina. 5. Sanatorio IPENSA, Buenos Aires, Argentina. 6. Movement Disorders and Neurophysiology Unit, Department of Neuroscience, AO Brotzu, Cagliari, Italy. 7. Movement Disorders Unit and Center for Rare Neurological Disorders, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. 8. Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany. 9. Movement Disorders Clinic, National Institute of Neurology and Neurosurgery, Mexico City, Mexico. 10. Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA. 11. Neurosciences Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK. 12. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. 13. Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, GA, USA.
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.
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.
Authors: Juliet K Knowles; Ingo Helbig; Cameron S Metcalf; Laura S Lubbers; Lori L Isom; Scott Demarest; Ethan M Goldberg; Alfred L George; Holger Lerche; Sarah Weckhuysen; Vicky Whittemore; Samuel F Berkovic; Daniel H Lowenstein Journal: Epilepsia Date: 2022-07-17 Impact factor: 6.740
Authors: Emily J Hill; Laurie A Robak; Rami Al-Ouran; Jennifer Deger; Jamie C Fong; Paul Jerrod Vandeventer; Emily Schulman; Sindhu Rao; Hiba Saade; Joseph M Savitt; Rainer von Coelln; Neeja Desai; Harshavardhan Doddapaneni; Sejal Salvi; Shannon Dugan-Perez; Donna M Muzny; Amy L McGuire; Zhandong Liu; Richard A Gibbs; Chad Shaw; Joseph Jankovic; Lisa M Shulman; Joshua M Shulman Journal: Neurol Genet Date: 2022-06-09