Evidence map›Paper›PMID 42899123›Full record

ArticleNeurology. Genetics2026

Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada.

Hugh J McMillan, Homira Osman, Kristin Kernohan, Melanie Lacaria, Stacey Lynn Hume, Andrew Muranyi, Graham Sinclair, Kathryn A Selby, Yves Giguère, Nick Anthony Antonishyn and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Hugh J McMillanDivision of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Canada.ORCID https://orcid.org/0000-0001-8927-2018
Homira OsmanMuscular Dystrophy Canada, Toronto, Ontario.ORCID https://orcid.org/0009-0001-4225-9075
Kristin KernohanNewborn Screening Ontario, Department of Medicine, University of Ottawa, Children's Hospital of Eastern Ontario, Canada.
Melanie LacariaNewborn Screening Ontario, Department of Medicine, University of Ottawa, Children's Hospital of Eastern Ontario, Canada.ORCID https://orcid.org/0000-0003-2249-063X
Stacey Lynn HumeNewborn Screening Ontario, Department of Medicine, University of Ottawa, Children's Hospital of Eastern Ontario, Canada.ORCID https://orcid.org/0000-0002-3217-3032
Andrew MuranyiAlberta Precision Laboratories, University of Alberta Hospital, Edmonton, Canada.ORCID https://orcid.org/0009-0002-1626-4054
Graham SinclairBC Newborn Screen Laboratory, Department of Pathology and Laboratory Medicine, University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada.ORCID https://orcid.org/0000-0002-3815-2005
Kathryn A SelbyDivision of Neurology, Department of Pediatrics, University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada.ORCID https://orcid.org/0000-0001-9239-1704
Yves GiguèreDepartment of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Quebec City, Canada.ORCID https://orcid.org/0000-0002-8655-1609
Nick Anthony AntonishynAlberta Precision Laboratories, University of Alberta Hospital, Edmonton, Canada.ORCID https://orcid.org/0009-0008-6924-355X
Paul Van CaeseeleCadham Provincial Laboratory, Winnipeg, Manitoba, Canada.ORCID https://orcid.org/0000-0003-1334-1165
Cherie EvansCadham Provincial Laboratory, Winnipeg, Manitoba, Canada.ORCID https://orcid.org/0009-0002-3601-2698
Zaiping LiuMaritimes NBS Service, Department of Pathology and Laboratory Medicine, Dalhousie University, IWK Health, Halifax, Nova Scotia, Canada.ORCID https://orcid.org/0009-0003-0524-0265
Maryam OskouiDepartment of Neurosciences, University of Montreal, Montreal, Quebec, Canada; and.ORCID https://orcid.org/0000-0003-1042-0108

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 Discussion: Canada achieved universal SMA screening in August 2024; however, interprovincial variability persists in testing methodology,

Identifiers

PMID42899123
PMCPMC13679138

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.