ALS Identified: two-year findings from a sponsored ALS genetic testing program

Area of Science:

• Neurology
• Genetics
• Medical Diagnostics

Background:

• Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease.
• Genetic factors play a significant role in ALS etiology.
• Genetic testing (GT) is crucial for diagnosis and understanding disease mechanisms.

Purpose of the Study:

• To present initial findings from the Amyotrophic Lateral Sclerosis (ALS) Identified genetic testing program.
• To characterize individuals undergoing genetic testing for ALS.
• To determine the frequency of disease-causing variants in the tested population.

Main Methods:

• The Invitae Amyotrophic Lateral Sclerosis panel, assaying 22 ALS-associated genes, was utilized.
• The program was offered at no cost to individuals aged 18+ in the US and Puerto Rico with ALS diagnosis or family history.
• Data collection occurred from June 2021 to October 2023.

Main Results:

• Nearly 1000 healthcare professionals ordered the panel, with over 8000 individuals tested.
• Of 7483 clinically diagnosed ALS patients, 24.2% had genetic variations.
• Pathogenic or likely pathogenic variants were identified in 12.1% of clinically diagnosed individuals.

Conclusions:

• The ALS Identified program demonstrates substantial engagement and sustained use.
• It represents one of the largest cohorts for genetic ALS testing in the US.
• The program underscores the high demand and necessity for genetic testing in ALS patients.