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How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey.
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- Author(s): Mancuso M;Mancuso M; Houlden H; Houlden H; Molnar MJ; Molnar MJ; Filla A; Filla A; Breza M; Breza M; Graessner H; Graessner H; Bassetti CLA; Bassetti CLA; Boesch S; Boesch S
- Source:
European journal of neurology [Eur J Neurol] 2022 Jul; Vol. 29 (7), pp. 1885-1891. Date of Electronic Publication: 2022 Mar 22.- Publication Type:
Journal Article; Research Support, Non-U.S. Gov't- Language:
English - Source:
- Additional Information
- Source: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
- Publication Information: Publication: <2014- > : Oxford : Wiley
Original Publication: Oxford ; New York : Rapid Communications, [1994- - Subject Terms:
- Abstract: 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.
(© 2022 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.) - References: Eur J Neurol. 2020 Aug;27(8):1493-1500. (PMID: 32386078)
Neurol Sci. 2020 Jun;41(6):1567-1570. (PMID: 31989346)
Am J Hum Genet. 1988 May;42(5):677-93. (PMID: 3358420)
Orphanet J Rare Dis. 2017 Mar 31;12(1):63. (PMID: 28359278)
Eur J Neurol. 2022 Jul;29(7):1885-1891. (PMID: 35271759)
Neurol Genet. 2018 Mar 26;4(2):e230. (PMID: 29600276)
Am J Hum Genet. 2021 Sep 2;108(9):1551-1557. (PMID: 34329581)
Eur J Hum Genet. 2020 Feb;28(2):165-173. (PMID: 31527858)
Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S12-7. (PMID: 23452765) - Contributed Indexing: Keywords: Europe; disease diagnosis; neurogenetics; rare diseases; survey
- Publication Date: Date Created: 20220310 Date Completed: 20220614 Latest Revision: 20220731
- Publication Date: 20240104
- Accession Number: PMC9314134
- Accession Number: 10.1111/ene.15320
- Accession Number: 35271759
- Source:
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