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. 2025 Aug 13;20(1):428.
doi: 10.1186/s13023-025-03927-6.

A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada

Alex Pace  1 , Weston Roda  2 , Corrina Poon  2 , Hugh J McMillan  3 , Maryam Oskoui  4 , Alex MacKenzie  3 , Pranesh Chakraborty  3 , Jeff Round  2   5
Affiliations

A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada

Alex Pace et al. Orphanet J Rare Dis. .

Abstract

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by the loss of the SMN1 gene, with an estimated birth prevalence of about 1 in 10,000. Early intervention with disease-modifying therapies (DMTs) significantly improves outcomes. This study evaluates the economic implications and health benefits of newborn screening (NBS) for SMA in Canada from the societal perspective.

Methods: A decision analytic model was developed, which combined a decision tree for the screening algorithm and a Markov model for long-term health outcomes. The Markov model included health states based on WHO motor milestones. The population cohort of 357,903 live newborns reflects the 2022-2023 births in Canada. Screening is performed on dried blood spot testing which evaluates for biallelic deletions in SMN1. Cost inputs encompassed treatment and health state costs, while utility values reflected quality of life in each health state.

Results: NBS for SMA is expected to identify 37.1 (95% CI: 15.0, 70.7) newborns annually in Canada. Our analysis over a lifetime horizon and a discount rate of 1.5% shows NBS and early treatment has an incremental cost of -$146,187,000 (95% CI: -249,773,777 to - 17,890,034) and incremental benefit of 872 (95% CI: -193, 2329) quality-adjusted life years (QALYs) compared to no NBS and late treatment. This resulted in a mean ICER value of -$173,572/QALY.

Conclusion: The decision analytic model indicated that overall NBS is cost-saving and more effective than no NBS and late treatment in the Canadian health system.

Keywords: Canadian health system; Cost-Utility analysis; Decision tree; Economic evaluation; Markov model; Newborn screening; Spinal muscular atrophy.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: HM has been a consultant and received honararia from Novartis Gene Therapies Inc, Hoffman La-Roche Ltd and Pfizer. He has participated in clinical trials with Roche, PTC Therapeutics, Biogen, DYNE, PepGen, ReveraGen, Catabasis, Novartis, and Sarepta. MO has received research support from Roche Genetech, Novartis, Santhera, Muscular Dystrophy Canada, Canadian Institutes of Health Research. PC has received research support from Biogen, Biomarin, Takeda, Cambrooke, Vitaflo, Nutricia, NFDC, CIHR and CF foundation. He has also served on advisory boards for Sanofi, Ultragenyx, Waters and Horizon. JR and his employer (The Institute of Health Economics) received no additional funding directly related to this work. AP has no disclosures to report. CP has no disclosures to report. WR has no disclosures to report. AM has no disclosures to report.

Figures

Fig. 1
Fig. 1
(a) Decision‑tree model where newborn screening–based detection exists with a portion of spinal muscular atrophy (SMA) patients clinically presenting in the Canadian birth cohort (n = 357 903) (b) Decision‑tree model where newborn screening-based detection does not exist and all SMA patients clinically present in the Canadian birth cohort (n = 357 903). SMA: spinal muscular atrophy; NBS: newborn screening; Symp: symptomatic; Pre-symp: Pre-symptomatic; SMN2: survival motor neuron 2; T: treatment; N: Nusinersen; Z: Zolgensma (OA); R: Risdiplam
Fig. 2
Fig. 2
SMA Markov model diagram. SMA: spinal muscular atrophy; BRND: broad range of normal development; PAV: permanent assisted ventilation
Fig. 3
Fig. 3
PSA cost-effectiveness plane, PSA: probabilistic sensitivity analysis; QALY: quality‑adjusted life year
Fig. 4
Fig. 4
DSA tornado diagram. DSA: deterministic sensitivity analysis; SMA: spinal muscular atrophy; SMN2: survival motor neuron 2; PAV: permanent assisted ventilation
See this image and copyright information in PMC

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