Sponsored genetic testing found disease-causing variants in 12.9% of 170 people with ALS
Original source
The Impact of Sponsored Genetic Testing in 170 Consecutive Consenting Patients With Amyotrophic Lateral Sclerosis: A Single-Site Retrospective Review. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Related topics
A single-site review found disease-causing genetic variants in 22 of 170 people with amyotrophic lateral sclerosis (ALS) who received sponsored testing. Variants were found in 37.1% of people with a family history of ALS and 6.7% of those without one. Testing led to genetic counselling and, for two people with pathogenic SOD1 variants, intrathecal tofersen treatment.
Why this matters
The findings show that sponsored testing can identify genetic information relevant to patients and at-risk relatives. They may also help identify people eligible for SOD1-targeted treatment, but the review does not show that testing itself improves outcomes.
Limitations and context
This was a retrospective review at one centre of 170 consenting patients tested from August 2021 through October 2025. The sponsored panels tested fewer genes than some previously published panels, which may explain the lower diagnostic yields reported here. The findings may not apply to all people with ALS.