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A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning.
De Oliveira, Hugo M; Soma, Arunachalam; Baker, Mark R; Turner, Martin R; Talbot, Kevin; Williams, Timothy L.
Afiliação
  • De Oliveira HM; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
  • Soma A; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Baker MR; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Turner MR; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Talbot K; Department of Clinical Neurophysiology, Royal Victoria Infirmary, Newcastle upon Tyne, UK, and.
  • Williams TL; Nuffield Department of Clinical Neurosciences. Level 6, John Radcliffe Hospital, Oxford, UK.
Article em En | MEDLINE | ID: mdl-36458618
Objective: To determine the current practice in genetic testing for patients with apparently sporadic motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) and asymptomatic at-risk relatives of familial MND/ALS patients seen in specialized care centers in the UK. Methods: An online survey with 10 questions distributed to specialist healthcare professionals with a role in requesting genetic testing working at MND/ALS care centers. Results: Considerable variation in practice was found. Almost 30% of respondents reported some discomfort in discussing genetic testing with MND/ALS patients and a majority (77%) did not think that all patients with apparently sporadic disease should be routinely offered genetic testing at present. Particular concerns were identified in relation to testing asymptomatic at-risk individuals and the majority view was that clinical genetics services should have a role in supporting genetic testing in MND/ALS, especially in asymptomatic individuals at-risk of carrying pathogenic variants. Conclusions: Variation in practice in genetic testing among MND/ALS clinics may be driven by differences in experience and perceived competence, compounded by the increasing complexity of the genetic underpinnings of MND/ALS. Clear and accessible guidelines for referral pathways between MND/ALS clinics and clinical genetics may be the best way to standardize and improve current practice, ensuring that patients and relatives receive optimal and geographically equitable support.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Esclerose Lateral Amiotrófica Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Esclerose Lateral Amiotrófica Idioma: En Ano de publicação: 2023 Tipo de documento: Article