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Published on: January 12, 2019
Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium
Tamara Dangouloff1, Praveen Thokala2, Matthew D Stevenson2
1Neuromuscular Reference Center, Department of Paediatrics, University Hospital Liège & University of Liège, Belgium.
Insights
Newborn screening for spinal muscular atrophy (SMA) followed by early treatment is cost-effective. This approach significantly improves quality-adjusted life years (QALYs) compared to treatment after symptom onset.
Area of Science:
- Health Economics
- Genetics
- Public Health
Background:
- Spinal muscular atrophy (SMA) is a severe genetic disorder.
- Early diagnosis and treatment are crucial for improving patient outcomes.
- Newborn screening (NBS) offers a potential pathway for early detection.
Purpose of the Study:
- To evaluate the cost-effectiveness of real-world SMA NBS followed by treatment.
- To compare the lifetime costs and quality-adjusted life years (QALYs) of NBS versus no NBS.
Main Methods:
- A cost-effectiveness model was developed from the Belgian healthcare perspective.
- Real-world data on quality of life, costs, and motor development were collected.
- 12 patients identified via NBS and 43 identified via symptoms were analyzed.
Main Results:
- NBS incurred slightly higher healthcare costs (€6,858,061 vs. €6,738,120) but yielded more QALYs (40.95 vs. 20.34).
- The incremental cost-effectiveness ratio was €5,820 per QALY gained.
- NBS was dominant from societal, caregiver burden, and parental preference perspectives.
Conclusions:
- SMA NBS coupled with early treatment is cost-effective compared to late treatment.
- NBS demonstrates dominant cost-effectiveness when considering societal impact, caregiver burden, and parental choice.
Abstract:
The objective of the study was to assess the cost-effectiveness of real-world spinal muscular atrophy newborn screening followed by treatment. We modeled the lifetime cost-effectiveness of the spinal muscular atrophy newborn screening followed by treatment (screening) compared to treatment without screening (no screening) from the Belgian healthcare perspective. Real-world data, including quality of life, costs, and motor development data, were collected on 12 patients identified by screening and 43 patients identified by their symptoms. "Screening" was associated with slightly higher healthcare costs (€ 6,858,061 vs. € 6,738,120) but more quality-adjusted life years (QALY) (40.95 vs. 20.34) compared to "no screening", leading to an incremental cost-effectiveness ratio of € 5,820 per QALY gained. "Screening" was dominant from a societal perspective (negative incremental costs: € -14,457; incremental QALY = 20.61), when incorporating the burden on caregivers (negative incremental costs = € -74,353; incremental QALY = 27.51), and when the treatment was chosen by the parents (negative incremental costs = € -2,596,748; incremental QALY = 20.61). Spinal muscular atrophy newborn screening coupled with early treatment is thus cost-effective compared with late treatment following clinical diagnosis and is dominant when societal perspective, caregiver burden, and treatment based on parental preference were considered.
