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Economic evidence on the cost-effectiveness of newborn screening for spinal muscular atrophy: a systematic review
Amit Kumar Mittal1, Mamta Patel1, Prachi Sharma1
1Resource Centre Health Technology Assessment, All India Institute of Medical Sciences, Jodhpur, India.
Insights
Newborn screening for spinal muscular atrophy (SMA) is a cost-effective public health strategy. Early detection through screening significantly improves patient outcomes and reduces long-term healthcare costs.
Area of Science:
- Public Health
- Genetics
- Health Economics
Background:
- Spinal muscular atrophy (SMA) is a severe genetic neurodegenerative disorder.
- Untreated SMA can lead to early infantile death and progressive muscle weakness.
- Newborn screening (NBS) enables early diagnosis and intervention for SMA, improving survival and quality of life.
Purpose of the Study:
- To systematically review the cost-effectiveness of NBS for SMA.
- To evaluate NBS for SMA across different countries and healthcare settings.
- To support the adoption of NBS programs for SMA through economic evaluations.
Main Methods:
- Systematic literature search of PubMed, ScienceDirect, and Scopus (Jan 2000-June 2025).
- Inclusion of cost-effectiveness studies of NBS for SMA.
- Data extraction on study characteristics, perspectives, economic evaluations, and outcomes.
- Analysis of six included studies, all employing economic model-based cost-utility analyses.
Main Results:
- All six studies indicated that NBS for SMA is highly likely to be cost-effective.
- Favorable economic outcomes were reported, including incremental cost-effectiveness ratios (ICERs) per quality-adjusted life year (QALY) or life-year gained, cost per QALY, or total cost savings.
- NBS for SMA demonstrated consistent cost-effectiveness across diverse settings.
Conclusions:
- NBS for SMA is a consistently cost-effective strategy across various settings.
- The findings support the inclusion of NBS for SMA in national screening programs.
- NBS for SMA is a life-saving public health strategy with favorable economic outcomes.
Abstract:
Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder associated with the risk of early infantile death. Newborn screening (NBS) is a vital public health strategy that enables early diagnosis and intervention. Economic evaluations have become essential to support the adoption of NBS programs for SMA. This systematic review aimed to evaluate the cost-effectiveness of NBS across different countries and healthcare settings for SMA. The PubMed, ScienceDirect, and Scopus databases were searched for cost-effectiveness studies of the NBS for SMA from January 2000 to June 2025. A standardized data extraction form was used to collect relevant data, including characteristics, perspectives, economic evaluations, and outcomes. A total of six studies met the predefined inclusion criteria, and all of them reported cost-utility analysis. All studies were economic model-based evaluations. These studies indicated that NBS for SMA is highly likely to demonstrate healthcare and societal cost-effectiveness. All six studies reported favorable economic outcomes, presenting either incremental cost-effectiveness ratios (ICERs) per quality-adjusted life year (QALY) or life-year gained, cost per QALY, or total cost savings. Collectively, these findings demonstrated that NBS for SMA is consistently cost-effective across diverse settings. The systematic review supports the inclusion of this approach in national screening programs as a cost-effective and life-saving public health strategy for SMA.
Conclusion:
These studies indicated that NBS for SMA is highly likely to demonstrate healthcare and societal cost-effectiveness. All six studies reported favorable economic outcomes, presenting either incremental cost-effectiveness ratios (ICERs) per quality-adjusted life year (QALY) or life-year gained, cost per QALY, or total cost savings. Collectively, these findings demonstrated that NBS for SMA is consistently cost-effective across diverse settings. The systematic review supports the inclusion of this approach in national screening programs as a cost-effective and life-saving public health strategy for SMA.
Trial Registration:
PROSPERO (CRD42024608296).
What Is Known:
•SMA is a genetic neurodegenerative disorder causing progressive muscle weakness and early infant death if untreated. •Early detection through NBS enables timely intervention, significantly improving survival and quality of life.
What Is New:
•The reviewed literature consistently demonstrates favorable economic outcomes, with most studies reporting either a cost-saving effect or acceptable ICERs per QALY gained. •These findings support the inclusion of SMA in national NBS programs, as early detection enables timely treatment, resulting in improved health outcomes and reduced long-term healthcare costs.
