The approval of Qalsody (tofersen) by Health Canada marked a transformative moment in the treatment of ALS caused by pathogenic variants in the SOD1 gene. This new genetic therapy offers hope for a subset of people with ALS and marks a broader shift in care practices for the disease.
However, despite its growing importance, access to genetic counselling and testing in Canada remains inconsistent. Provincial disparities and administrative hurdles can delay or prevent patients from receiving timely results and counselling. These barriers may, in turn, delay the initiation of treatment for eligible individuals or prevent participation in future trials targeting other genetic forms of ALS.
This is why, with support from ALS Canada, members of the Canadian ALS Research Network (CALS) have published the article “Integrating genetic testing into management of all patients with amyotrophic lateral sclerosis: a critical juncture, in the Canadian Medical Association Journal (CMAJ). In the publication, the authors emphasize the importance of equitable access to genetic testing for patients with ALS across all provinces and territories to improve diagnosis, allow for early genetic counselling, and ensure early intervention with new targeted therapies if indicated.
The article also notes that the Canadian Best Practice Recommendations for the Management of ALS, published in 2020 by CALS, do not mention genetic testing or reflect the latest therapeutic advancements. Updating these guidelines to include genetic testing for every individual, regardless of family history, is essential to ensure equitable care.
This push for equity is supported by the new National ALS Genetic Counsellor, Maya Binet, MSc.
“I’m in a unique position to dedicate my efforts exclusively to ALS,” says Maya, who is working to assess current practices and identify gaps in care across the country. “I look forward to helping improve access to genetic counselling for all Canadians impacted by ALS.”
ALS Canada will continue to raise awareness, push for policy changes, and support ALS experts in their efforts to standardize care, remove barriers, and improve outcomes for all Canadians living with ALS.
For more information on ALS and genetics, please visit the ALS Canada Gene Hub.