Newborn screening for SMA boosts health, saves money: Study review
Results improve when it's paired with presymptomatic treatment
- Newborn screening for SMA improves health outcomes, a review of studies found.
- Combined with presymptomatic treatment, it significantly reduces healthcare costs.
- Early detection is crucial for better patient outcomes and cost-effectiveness.
A new review of studies from six countries reveals that incorporating spinal muscular atrophy (SMA) into newborn screening (NBS) programs yields clinical improvements and reduces healthcare spending, particularly when paired with presymptomatic treatment.
“These results collectively indicate that NBS for SMA, when combined with presymptomatic treatment, is not only a clinically beneficial intervention, but also a cost-effective and cost-saving approach across various healthcare settings,” researchers wrote.
The review, “Economic evidence on the cost-effectiveness of newborn screening for spinal muscular atrophy: a systematic review,” was published in the European Journal of Pediatrics.
Disease-modifying therapies have transformed SMA treatment
In most SMA cases, mutations in the SMN1 gene lead to SMN protein deficiency. Without enough functional SMN, motor neurons — nerve cells responsible for movement — gradually deteriorate and die.
A second gene, SMN2, helps determine the severity of the disease. Although similar to SMN1, SMN2 produces only about 10% of the amount of working protein resulting from SMN1. Generally, people with more copies of SMN2 have milder disease. This makes SMN2 important for diagnosis, prognosis, and treatment decisions.
In recent years, SMA treatment has undergone a significant transformation with the introduction of disease-modifying therapies, which yield benefits in motor function, lung function, and survival, particularly when treatment starts before symptoms appear.
Reflecting the importance of early treatment, the U.S. and other countries have integrated SMA into their national newborn screening programs, making diagnosis and treatment possible early in life. These decisions have been supported by economic modeling, which demonstrates that early detection is cost-effective, particularly when considering long-term health and productivity gains.
“Nevertheless, gaps between healthcare systems, the availability of certain kinds of treatments, cost structures, and so on require that such evidence should be context-specific and be used to make decisions in other settings, particularly in low- and middle-income countries (LMICs) where issues of economic limitations and disparities in access to healthcare might be a problem,” the researchers wrote.
Researchers analyzed studies from 6 countries
With this in mind, researchers in India conducted a systematic review of cost-effectiveness studies on NBS programs published across three online databases from January 2000 to June 2025.
Six studies — all conducted in high-income countries, including Australia, Japan, Italy, Belgium, England, and the Netherlands — were analyzed. The size of the groups varied widely across studies, from small observational groups of 55 patients to simulation models assessing more than 842,000 newborns.
Most studies assessed NBS plus presymptomatic treatment, whereas the ones in Australia and England evaluated NBS without explicitly including presymptomatic treatment. All studies used no NBS as a comparator, with treatment started only upon the emergence of clinical symptoms.
All studies reported the findings as incremental quality-adjusted life years (QALYs) gained and cost savings, except for the one in Belgium, which reported the cost per QALY. QALYs measure the impact on quality of life and duration over a specific period.
When broader societal costs such as caregiver burden and productivity losses are considered, NBS proves to be a more cost-effective and ethically sound strategy.
Across all countries, NBS was associated with substantial gains in QALYs and notable healthcare cost savings. The maximum additional QALYs were in Japan (736), whereas the maximum cost savings were in England, with £62 million saved (about $87 million U.S.).
The Belgian study also accounted for caregiver burden. When it was considered, cost savings increased from €14,457 to €74,353 (more than $80,000 U.S.), and the number of QALYs gained rose to 27.51 from 20.61.
“When broader societal costs such as caregiver burden and productivity losses are considered, NBS proves to be a more cost-effective and ethically sound strategy,” the researchers wrote.
Overall, the “current systematic review supports the growing evidence that NBS is a crucial public health intervention for SMA,” the researchers wrote. “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.”
The scientists noted that the analysis had limitations, including incomplete reporting on key factors, such as long-term treatment benefits, as well as variable study designs and outcome measures across the analyzed studies.
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