Whole-genome sequencing found a likely genetic cause in 13% of people with ALS in a 500-person study
Original source
Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Related topics
Clinical whole-genome sequencing identified disease-causing variants in 61 of 500 people with neurodegenerative diseases, for an overall diagnostic yield of 12%. The yield was 13% in the amyotrophic lateral sclerosis (ALS) group. C9orf72 repeat expansions were the most common finding among the disease-causing variants.
Why this matters
The findings support offering genetic testing to people with ALS regardless of their age at onset or family history. A genetic result may help with diagnosis, genetic counselling and clinical-trial inclusion, but this study does not show that sequencing changes treatment or improves outcomes.
Limitations and context
This was a diagnostic study of 500 people with varied neurodegenerative diseases, not a treatment trial. The source does not provide the number of participants in the ALS group or follow-up showing clinical benefit. The findings come from one primary research article and would need confirmation across other clinical settings.