Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases

Painous, Cèlia; Os, Nienke J H van; Delamarre, Anna; Michailoviene, I.; Martı́, Marı́a José; Warrenburg, B.P.C. van de; Meissner, Wassilios G.; Utkus, Algirdas; Reinhard, Carola; Graeßner, Holm; Tijssen, Marina A. J.

doi:10.1111/ene.14302

Cited by 19 publications

(24 citation statements)

References 13 publications

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“…Our results revealed inequality of access to genetic testing at worldwide level and a challenging access in more than half of cases for all types of testing, even in Europe and North America. These results are consistent with a survey promoted by the European Reference Network for Rare Neurological Diseases [21]. This survey collected responses from 80 European experts in atypical parkinsonisms, dystonias/paroxysmal dyskinesia, HSPs and ataxias, choreas.…”

Section: Discussionsupporting

confidence: 86%

Worldwide barriers to genetic testing for movement disorders

Gatto

Walker

Gonzalez

et al. 2021

Euro J of Neurology

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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.

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Section: Discussionsupporting

confidence: 86%

Worldwide barriers to genetic testing for movement disorders

Gatto

Walker

Gonzalez

et al. 2021

Euro J of Neurology

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“…In Europe, it is estimated that >500,000 persons are affected by RNDs, and globally, the management presents a significant challenge [4,5] to health policy makers, health care providers, patients, and society in general due to gaps in knowledge, lack of awareness, difficulties in gene testing, and treatment access due to the high costs.…”

Section: Discussionmentioning

confidence: 99%

How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey

Mancuso

Houlden

Molnar

et al. 2022

Euro J of Neurology

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Background and purpose Seven thousand rare diseases have been identified; most of them are of genetic origin. The diagnosis of a neurogenetic disease is difficult, and management and training programs are not well defined through Europe. To capture and assess care needs, the Neurogenetics Panel of the European Academy of Neurology (EAN) has performed an explorative survey. Methods The survey covering multiple topics of neurogenetics was sent to all neurologists and neuropediatricians affiliated with the EAN practicing in Europe. Results We collected answers from 239 members based in 40 European member states. Even though most of the responders were aware of neurogenetic diseases, when we came to amenability of carrying out a complete genetic diagnosis, almost one‐third of the responders declared they were not happy with the current way of ordering genetic analyses in their countries. Furthermore, although single‐gene analysis is diffusely present in Europe, whole exome and genome sequencing are not easily accessible, with considerable variabilities among countries. Almost 10% of the responders did not know if presymptomatic and prenatal diagnosis was available in their countries, and 47.3% were not aware of which newborn screening programs were available. Finally, 96.3% of responders declared that there is a need for education and training in neurogenetics. Conclusions We believe that this survey may be of importance for all European stakeholders in neurogenetics in identifying key priorities, targeting areas to encourage education/travel fellowships, and educational seminars in the future, because this area will only accelerate, and diagnostic requirements will expand.

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“…RND care needs and situations differ between disease groups as well as between countries. In order to capture and assess care needs ERN-RND can address, a care need survey has been performed for all disease groups covered by ERN-RND across all EU countries ( 6 ). The survey is based on a respective publication for dystonia ( 7 ).…”

Section: Expert Rnd Care Coordinationmentioning

confidence: 99%

The European Reference Network for Rare Neurological Diseases

et al. 2021

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While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have “the knowledge travel instead of the patient,” which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. At the moment, it unites 32 expert centers and 10 affiliated partners in 21 European countries, as well as patient representatives, but will soon cover nearly all countries of the European Union as a result of the ongoing expansion process. Disease expert groups developed and consented on diagnostic flowcharts and disease scales to assess the different aspects of RNDs. ERN-RND has started to discuss diagnostically unclear patients in the CPMS, is one of four ERNs that serve as foundation of Solve-RD, and has established an RND training and education program. The network will facilitate trial readiness through the establishment of an ERN-RND registry with a minimal data of all patients seen at the ERN-RND centers, thus providing a unique overview of existing genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public.

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Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases

Cited by 19 publications

References 13 publications

Worldwide barriers to genetic testing for movement disorders

Worldwide barriers to genetic testing for movement disorders

How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey

The European Reference Network for Rare Neurological Diseases

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