Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada.
14 affiliations
- 1Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Canada.
- 2Muscular Dystrophy Canada, Toronto, Ontario.
- 3Neuromuscular Disease Network of Canada, Ottawa, Ontario.
- 4Newborn Screening Ontario, Department of Medicine, University of Ottawa, Children's Hospital of Eastern Ontario, Canada.
- 5Alberta Precision Laboratories, University of Alberta Hospital, Edmonton, Canada.
- 6BC Newborn Screen Laboratory, Department of Pathology and Laboratory Medicine, University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada.
- 7Division of Neurology, Department of Pediatrics, University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada.
- 8Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Quebec City, Canada.
- 9Quebec Newborn Blood Screening Program, Department of Laboratory Medicine, CHU de Québec-Université Laval, Quebec City, Canada.
- 10Newborn Screening Saskatchewan, Roy Romanow Provincial Laboratory, Saskatchewan Health Authority, Regina, Canada.
- 11Cadham Provincial Laboratory, Winnipeg, Manitoba, Canada.
- 12Maritimes NBS Service, Department of Pathology and Laboratory Medicine, Dalhousie University, IWK Health, Halifax, Nova Scotia, Canada.
- 13Department of Neurosciences, University of Montreal, Montreal, Quebec, Canada; and.
- 14The Azrieli Research Centre of CHU Sainte-HJustine, Montreal, Canada.
Abstract
Background and objectives
Newborn screening (NBS) for spinal muscular atrophy (SMA) and reimbursement of disease-modifying therapies (DMTs) are managed provincially in Canada, creating inequities in diagnosis and treatment. We describe NBS methodology, reporting practices, and DMT reimbursement across Canada and report the first national birth prevalence of SMA.Methods
We conducted a cross-sectional survey of laboratory directors from each provincial NBS program, validated against publicly available government sources (censored December 31, 2025). Birth prevalence was calculated using a Poisson 95% CI. The study met research ethics board deferral criteria as a quality assurance study.Results
Since NBS initiation (Ontario, in January 2020; full national coverage, in August 2024), 1,502,890 infants were screened. Of the 120 infants reported to have homozygous absence of exon 7 in SMN1, the estimated national birth prevalence was 1 in 12,524 births (95% CI 1:10,554 to 1:15,245 births). The distribution of SMN2 copy numbers in newborns with SMA identified 2 newborns (1.7%) with one copy of SMN2, 51 (42.5%) with 2 copies of SMN2, 41 (34.2%) with 3 copies of SMN2, 23 (19.2%) with 4 copies of SMN2, and 3 (2.5%) with 5 copies of SMN2. First-tier testing methodology and second-tier confirmation varied by province, as did the timing of SMN2 copy number availability at first family contact. DMT reimbursement for infants with 4 copies of SMN2 is not nationally harmonized.Discussion
Canada achieved universal SMA screening in August 2024; however, interprovincial variability persists in testing methodology, SMN2 copy number reporting, and DMT access. Infants with 4 copies of SMN2 face particularly inequitable treatment access despite growing expert consensus supporting early treatment initiation. Ongoing work is needed to eliminate inequity in regional drug reimbursement criteria for Canadian newborns identified with SMA on NBS.
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BibTeX
@article{mcmillan2026nationwide,
title = {{Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada.}},
author = {Hugh J McMillan and Homira Osman and Kristin Kernohan and Melanie Lacaria and Stacey Lynn Hume and Andrew Muranyi and Graham Sinclair and Kathryn A Selby and Yves Giguère and Nick Anthony Antonishyn and Paul Van Caeseele and Cherie Evans and Zaiping Liu and Maryam Oskoui},
journal = {Neurology. Genetics},
year = {2026},
month = oct,
doi = {10.1212/nxg.0000000000200451},
url = {https://europepmc.org/article/MED/42899123},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada.
AU - Hugh J McMillan
AU - Homira Osman
AU - Kristin Kernohan
AU - Melanie Lacaria
AU - Stacey Lynn Hume
AU - Andrew Muranyi
AU - Graham Sinclair
AU - Kathryn A Selby
AU - Yves Giguère
AU - Nick Anthony Antonishyn
AU - Paul Van Caeseele
AU - Cherie Evans
AU - Zaiping Liu
AU - Maryam Oskoui
PY - 2026
DA - 2026/10/15
JO - Neurology. Genetics
DO - 10.1212/nxg.0000000000200451
UR - https://europepmc.org/article/MED/42899123
AB - Background and objectives Newborn screening (NBS) for spinal muscular atrophy (SMA) and reimbursement of disease-modifying therapies (DMTs) are managed provincially in Canada, creating inequities in diagnosis and treatment. We describe NBS methodology, reporting practices, and DMT reimbursement across Canada and report the first national birth prevalence of SMA.Methods We conducted a cross-sectional survey of laboratory directors from each provincial NBS program, validated against publicly available government sources (censored December 31, 2025). Birth prevalence was calculated using a Poisson 95% CI. The study met research ethics board deferral criteria as a quality assurance study.Results Since NBS initiation (Ontario, in January 2020; full national coverage, in August 2024), 1,502,890 infants were screened. Of the 120 infants reported to have homozygous absence of exon 7 in SMN1, the estimated national birth prevalence was 1 in 12,524 births (95% CI 1:10,554 to 1:15,245 births). The distribution of SMN2 copy numbers in newborns with SMA identified 2 newborns (1.7%) with one copy of SMN2, 51 (42.5%) with 2 copies of SMN2, 41 (34.2%) with 3 copies of SMN2, 23 (19.2%) with 4 copies of SMN2, and 3 (2.5%) with 5 copies of SMN2. First-tier testing methodology and second-tier confirmation varied by province, as did the timing of SMN2 copy number availability at first family contact. DMT reimbursement for infants with 4 copies of SMN2 is not nationally harmonized.Discussion Canada achieved universal SMA screening in August 2024; however, interprovincial variability persists in testing methodology, SMN2 copy number reporting, and DMT access. Infants with 4 copies of SMN2 face particularly inequitable treatment access despite growing expert consensus supporting early treatment initiation. Ongoing work is needed to eliminate inequity in regional drug reimbursement criteria for Canadian newborns identified with SMA on NBS.
SN - 2376-7839
ER -