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

Chaouch A., Crook A., Douglas AGL., McDermott CJ., Al-Chalabi A., McNeill A., Bedford J., Howard J., MacLeod R.

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.

DOI

10.1080/21678421.2025.2539895

Type

Journal article

Publication Date

2026-02-01T00:00:00+00:00

Volume

27

Pages

28 - 34

Total pages

6

Keywords

ALS, Genomic testing, MND, diagnostic, genetic counseling, mainstream clinics, Humans, Amyotrophic Lateral Sclerosis, Genetic Testing, Genetic Counseling, Genetic Predisposition to Disease

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