Related Experiment Video
Updated: Sep 1, 2025
Cell-based Assay Protocol for the Prognostic Prediction of Idiopathic Scoliosis Using Cellular Dielectric Spectroscopy
Published on: October 16, 2013
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands
Rimma Velikanova1, Simon van der Schans2, Matthias Bischof3
1Unit of Global Health, Department of Health Sciences, University Medical Center Groningen (UMCG), University of Groningen, Groningen, The Netherlands; Asc Academics, Groningen, The Netherlands.
Insights
Newborn screening for spinal muscular atrophy (SMA) improves survival and motor milestones. Early detection and treatment through newborn screening (NBS) is cost-effective, enhancing quality of life for infants with SMA.
Area of Science:
- Genetics
- Neurology
- Public Health
Background:
- Spinal muscular atrophy (SMA) is a severe genetic disorder leading to progressive muscle weakness and paralysis.
- The most common and severe form of SMA results in mortality before age two without intervention.
- Early detection and treatment, ideally pre-symptomatic, are crucial for maximizing survival and motor development.
Purpose of the Study:
- To evaluate the cost-effectiveness of integrating SMA into newborn screening (NBS) programs in The Netherlands.
- To compare the health outcomes and economic impact of NBS for SMA versus diagnosis and treatment after symptom onset.
Main Methods:
- A cost-utility model was developed to estimate lifetime health effects and costs.
- Model inputs were derived from literature, local data, and expert consensus.
- Sensitivity and scenario analyses were performed to ensure robustness of the findings.
Main Results:
- Newborn screening for SMA identified 17 patients, leading to an estimated gain of 320 quality-adjusted life-years per annual birth cohort.
- Implementing NBS for SMA resulted in an estimated healthcare cost reduction of €12,014,949.
- Early detection and treatment via NBS demonstrated significant improvements in health outcomes and reduced overall costs.
Conclusions:
- Newborn screening for SMA is a cost-effective strategy that improves health outcomes.
- Early identification and treatment through NBS enhance survival and motor milestones compared to symptomatic treatment.
- Integrating SMA into NBS programs represents an efficient use of healthcare resources.
Objectives:
Spinal muscular atrophy (SMA) is a rare genetic disorder that causes progressive muscle weakness and paralysis. In its most common and severe form, the majority of untreated infants die before 2 years of age. Early detection and treatment, ideally before symptom onset, maximize survival and achievement of age-appropriate motor milestones, with potentially substantial impact on health-related quality of life. Therefore, SMA is an ideal candidate for inclusion in newborn screening (NBS) programs. We evaluated the cost-effectiveness of including SMA in the NBS program in The Netherlands.
Methods:
We developed a cost-utility model to estimate lifetime health effects and costs of NBS for SMA and subsequent treatment versus a treatment pathway without NBS (ie, diagnosis and treatment after presentation with overt symptoms). Model inputs were based on literature, local data, and expert opinion. Sensitivity and scenario analyses were conducted to assess model robustness and validity of results.
Results:
After detection of SMA by NBS in 17 patients, the number of quality-adjusted life-years gained per annual birth cohort was estimated at 320 with NBS followed by treatment compared with treatment after clinical SMA diagnosis. Total healthcare costs, including screening, diagnostics, treatment, and other healthcare resource use, were estimated to be €12 014 949 lower for patients identified by NBS.
Conclusions:
NBS for early identification and treatment of SMA versus later symptomatic treatment after clinical diagnosis improves health outcomes and is less costly and, therefore, is a cost-effective use of resources. Results were robust in sensitivity and scenario analyses.
