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Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and
Sophy T F Shih1, Elena Keller2, Veronica Wiley3,4
1Surveillance, Evaluation and Research Program, Kirby Institute, University of New South Wales, Sydney, NSW 2052, Australia.
Insights
Universal newborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) offers significant long-term cost savings and improves patient outcomes. Early diagnosis and treatment through NBS are cost-effective and save lives.
Area of Science:
- Genetics and Newborn Health
- Health Economics
- Rare Disease Management
Background:
- Spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) are rare, severe inherited genetic disorders.
- Early diagnosis and treatment, particularly before symptom onset, maximize benefits for patients with SMA and SCID.
- Current healthcare systems face challenges in timely diagnosis and treatment initiation for these conditions.
Purpose of the Study:
- To evaluate the economic implications of implementing universal newborn screening (NBS) for both SCID and SMA.
- To determine the cost-effectiveness and budget impact of introducing combined NBS for these rare genetic disorders.
- To assess the long-term clinical and economic value of early detection through NBS.
Main Methods:
- Decision analytical models combined with Markov simulations were employed for cost-effectiveness analysis.
- The study adopted a government perspective over a 60-year time horizon.
- Economic evaluation included measures of Quality-Adjusted Life Years (QALYs) gained and cost savings.
Main Results:
- Universal NBS for SCID and SMA, coupled with early treatment, is projected to yield 95 QALYs per 100,000 newborns.
- The implementation is estimated to result in cost savings of USD 8.6 million over the specified time horizon.
- Sensitivity analysis confirmed that 97% of simulated results meet common cost-effectiveness thresholds.
Conclusions:
- Introducing combined NBS for SCID and SMA represents a cost-effective strategy with substantial long-term economic benefits for governments.
- The program significantly improves and saves lives by enabling early diagnosis and treatment.
- Combined NBS for SCID and SMA is a valuable public health investment, offering good value for money.
Abstract:
Spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) are rare, inherited genetic disorders with severe mortality and morbidity. The benefits of early diagnosis and initiation of treatment are now increasingly recognized, with the most benefits in patients treated prior to symptom onset. The aim of the economic evaluation was to investigate the costs and outcomes associated with the introduction of universal newborn screening (NBS) for SCID and SMA, by generating measures of cost-effectiveness and budget impact. A stepwise approach to the cost-effectiveness analyses by decision analytical models nested with Markov simulations for SMA and SCID were conducted from the government perspective. Over a 60-year time horizon, screening every newborn in the population and treating diagnosed SCID by early hematopoietic stem cell transplantation and SMA by gene therapy, would result in 95 QALYs gained per 100,000 newborns, and result in cost savings of USD 8.6 million. Sensitivity analysis indicates 97% of simulated results are considered cost-effective against commonly used willingness-to-pay thresholds. The introduction of combined NBS for SCID and SMA is good value for money from the long-term clinical and economic perspectives, representing a cost saving to governments in the long-term, as well as improving and saving lives.
