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).<Table Float="No" ID="Taba"> <tgroup cols="1"> <colspec align="left" colname="c1" colnum="1" /> <tbody> <row> <entry align="left" colname="c1"> 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. </entry> </row> <row> <entry align="left" colname="c1"> 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. </entry> </row> </tbody> </tgroup> </Table>

Economic evidence on the cost-effectiveness of newborn screening for spinal muscular atrophy: a systematic review

期刊论文
发表日期：

2025年11月19日

查看全文

Amit Kumar Mittal,
Mamta Patel,
Prachi Sharma,
Dolat Singh Shekhawat,
Priya Amrit,
Lokesh Saini,
Kuldeep Singh

摘要

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.