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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

Lookup NU author(s): Soma Soma, Professor Mark BakerORCiD, Dr Timothy Williams

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).

Abstract

© 2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. 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.

Publication metadata

Author(s): De Oliveira HM, Soma A, Baker MR, Turner MR, Talbot K, Williams TL

Publication type: Article

Publication status: Published

Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year: 2023

Volume: 24

Issue: 5-6

Pages: 405-413

Online publication date: 02/12/2022

Acceptance date: 16/11/2022

Date deposited: 20/06/2023

ISSN (print): 2167-8421

ISSN (electronic): 2167-9223

Publisher: Taylor and Francis Ltd

URL: https://doi.org/10.1080/21678421.2022.2150556

DOI: 10.1080/21678421.2022.2150556

PubMed id: 36458618

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