Howard, J., Bekker, H. L. orcid.org/0000-0003-1978-5795, McDermott, C. J. et al. (1 more author) (2025) Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421
Abstract
Objective: Whole Genome Sequencing (WGS) for amyotrophic lateral sclerosis (ALS) (also known as motor neuron disease, MND) raises multiple considerations and has a range of implications for individuals and their family. However, it is unclear what needs people with ALS have when making genomic testing decisions. This study explores the experiences, needs and preferences of these individuals when considering WGS and going through the process.
Methods: A semi-structured interview study was carried out with 14 people with ALS from across the UK who had, or were considering, WGS. Participants were recruited from a local ALS care center and MND Association/MND Scotland channels. Data were analyzed using framework analysis.
Results: Findings indicate variation in (a) how WGS and access to pretest genetic counseling is provided, (b) the perceived adequacy of information to support decision-making and prepare people with ALS for their test result and its consequences, and (c) preferences for making decisions with family and health professionals that best meets their clinical and life needs along the care pathway.
Conclusions: There is an urgent need for people with ALS to have relevant, accurate and accessible information that supports proactively their decision-making around WGS, particularly in the context of genetically-targeted treatments and clinical trials. These findings will contribute to the development of a shared decision-making intervention supporting people with ALS to make genomic testing decisions with their family and neurology services.
Metadata
Item Type: | Article |
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Authors/Creators: |
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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 ofthe Accepted Manuscript in a repository by the author(s) or with their consent. |
Keywords: | Genetic testing, genomic testing, whole genome sequencing, motor neuron disease, amyotrophic lateral sclerosis,patient decision aids, shared decision-making |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Leeds Institute of Health Sciences (Leeds) > Academic Unit of Psychiatry and Behavioural Sciences (Leeds) |
Funding Information: | Funder Grant number MOTOR NEURONE DISEASE ASSOCIATION Not Known |
Depositing User: | Symplectic Publications |
Date Deposited: | 19 Feb 2025 11:53 |
Last Modified: | 17 Mar 2025 15:15 |
Published Version: | https://www.tandfonline.com/doi/full/10.1080/21678... |
Status: | Published online |
Publisher: | Taylor & Francis |
Identification Number: | 10.1080/21678421.2025.2469727 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:223490 |