The use of genetic testing in amyotrophic lateral sclerosis (ALS): a practical approach

Abstract

Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disease thought to be precipitated by genetic, environment and lifestyle factors. In the UK, whole genome sequencing has become available to all people living with ALS, regardless of their family history or age of onset of disease. However, there is currently no formal guidance on how to deliver genetic counseling and testing in busy mainstream clinics. This article offers practical suggestions to clinicians who may wish or need to discuss genomic testing. As more clinical trials and targeted gene therapies develop, it is likely that conversations will evolve, reflecting the dynamic nature of this important and complex field.

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Item Type:	Article
Authors/Creators:	Chaouch, A. https://orcid.org/0009-0005-4340-6400 Crook, A. https://orcid.org/0000-0001-5578-0460 Douglas, A.G.L. https://orcid.org/0000-0001-5154-6714 McDermott, C.J. https://orcid.org/0000-0002-1269-9053 Al-Chalabi, A. https://orcid.org/0000-0002-4924-7712 McNeill, A. https://orcid.org/0000-0001-5702-3631 Bedford, J. Howard, J. https://orcid.org/0000-0001-7182-593X MacLeod, R. https://orcid.org/0000-0001-9239-4526
Copyright, Publisher and Additional Information:	© 2025 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way. The terms on which this article has been published allow the posting of the Accepted Manuscript in a repository by the author(s) or with their consent.
Keywords:	ALS; Genomic testing; MND; diagnostic; genetic counseling; mainstream clinics; Humans; Amyotrophic Lateral Sclerosis; Genetic Testing; Genetic Counseling; Genetic Predisposition to Disease
Dates:	Submitted: 29 April 2025 Accepted: 22 July 2025 Published (online): 8 August 2025 Published: 8 August 2025
Institution:	The University of Sheffield
Academic Units:	The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
Date Deposited:	27 Aug 2026 08:22
Last Modified:	27 Aug 2026 08:22
Status:	Published
Publisher:	Taylor & Francis
Refereed:	Yes
Identification Number:	10.1080/21678421.2025.2539895
Related URLs:	PubMed URL
Open Archives Initiative ID (OAI ID):	oai:eprints.whiterose.ac.uk:244661

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The use of genetic testing in amyotrophic lateral sclerosis (ALS): a practical approach

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