Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices

Abstract

Objective: To understand current genetic testing practices at Canadian ALS clinics. Methods: An online survey and phone interviews, with clinicians practicing in 27 ALS clinics in Canada, were employed to collect data. Quantitative and qualitative analyses were conducted. Results: Ninety-three percent (25/27) of ALS clinics in Canada are routinely ordering genetic testing for familial ALS, while 33% (9/27) of clinics are routinely ordering genetic testing for sporadic ALS. Barriers to genetic testing include a perceived lack of an impact on treatment plan, difficulty in obtaining approvals, primarily from provincial Ministries of Health, and limited access to genetic counseling. Predictive testing practices were found to be the most variable across the country. The average wait time for a symptomatic patient living with ALS to see a genetic counselor in Canada is 10 months (range 0–36 months). Conclusions: Access to genetic testing, and testing practices, vary greatly across Canadian ALS clinics. There may be patients with a monogenetic etiology to their ALS who are not being identified given that genetic testing for patients diagnosed with ALS is not routinely performed at all clinics. This study highlights potential inequities for patients with ALS that can arise from variability in health care delivery across jurisdictions, in a federally-funded, but provincially-regulated, health care system. Clinical trials for both symptomatic ALS patients and pre-symptomatic ALS gene carriers are ongoing, and ALS clinicians in Canada are motivated to improve access to genetic testing for ALS.

Keywords:

• Amyotrophic lateral sclerosis
• genetic testing
• genetic counseling
• clinical management
• Canada

Data availability statement

The data that support the findings of this study are available on request. The raw data are not publicly available to protect the anonymity of the clinics that participated.

Acknowledgements

The authors thank all clinicians that responded to the survey and took time to participate in the phone interviews, and Trisha Rao for copyediting during the drafting and revising of this manuscript.

Declaration of interest

K. Salmon, N. Anoja, A. Breiner, M. Chum, A. Dionne, N. Dupré, A. Fiander, D. Fok, A. Ghavanini, S. Gosselin, A. Izenberg, S. Kalra, G. Matte, M. Melanson, B. Ritsma, C. Shoesmith, S. Tremblay and H. Williams report no conflicts of interest. C. O’Connell has consulting agreements with Biogen and MT Pharma Canada. W. Johnston serves on advisory boards for Amylyx, Biogen, Cytokinetics, and MT Pharma Canada. K. Schellenberg has served on an advisory board for Biogen. A. Genge serves as the Chief Medical Officer of QurAlis, and has consulting agreements with AB Sciences, AL-S Pharma, Alexion, Biogen, Cytokinetics, MT Pharma America, MT Pharma Canada, Novartis, Orion, Revalesio, and Roche.

Additional information

Funding

Funding for this study was provided by Biogen, through a Sponsored Research Agreement [CA-ALS-11706].