Evidence gaps hindering implementation of newborn screening for galactosemia
Abstract
Background: Variability in newborn screening for classic galactosemia (GALT) across countries reflects important evidence gaps that challenge consistent and equitable implementation. Robust evidence is required to support decisions on screening effectiveness and safety.
Methods: A systematic review of the literature was conducted to assess the clinical effectiveness and safety of newborn screening for galactosemia compared with no screening. Searches included systematic reviews, health technology assessments, and primary studies (2019–2026). Study selection followed PRISMA guidelines. Evidence was synthesised using an Evidence-to-Decision framework. A national survey of screening programmes was also performed.
Results: Three critical evidence gaps represent key challenges for implementation. First, the early age of clinical onset—often within the first week of life—may precede the availability of screening results, limiting timely intervention. Second, heterogeneous screening strategies, including variability in biomarkers and cut-off thresholds, lead to uncertainty in test performance and hinder comparability across programmes. Third, evidence on the benefits of presymptomatic treatment is limited and inconclusive, with no robust data demonstrating improved long-term outcomes.
Conclusions: Key uncertainties in timing, test performance and outcomes limit conclusions on the effectiveness and safety of newborn screening for GALT. Addressing these challenges is essential to support consistent and equitable implementation across health systems. Strengthening evidence on long-term benefits and promoting standardisation of screening protocols should be prioritised.
Key messages: • Key evidence gaps in timing, testing and outcomes challenge implementation of galactosemia screening.
• Stronger evidence and standardisation are needed for consistent and equitable screening decisions.
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BibTeX
@article{pazvalinas2026evidence,
title = {{Evidence gaps hindering implementation of newborn screening for galactosemia}},
author = {L Paz-Valinas and MJ Faraldo-Vallés and MC Maceira-Rozas and B Casal-Acción},
journal = {The European Journal of Public Health},
year = {2026},
month = oct,
doi = {10.1093/eurpub/ckag169.1486},
url = {https://doi.org/10.1093/eurpub/ckag169.1486},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Evidence gaps hindering implementation of newborn screening for galactosemia
AU - L Paz-Valinas
AU - MJ Faraldo-Vallés
AU - MC Maceira-Rozas
AU - B Casal-Acción
PY - 2026
DA - 2026/10/01
JO - The European Journal of Public Health
DO - 10.1093/eurpub/ckag169.1486
UR - https://doi.org/10.1093/eurpub/ckag169.1486
AB - Background: Variability in newborn screening for classic galactosemia (GALT) across countries reflects important evidence gaps that challenge consistent and equitable implementation. Robust evidence is required to support decisions on screening effectiveness and safety. Methods: A systematic review of the literature was conducted to assess the clinical effectiveness and safety of newborn screening for galactosemia compared with no screening. Searches included systematic reviews, health technology assessments, and primary studies (2019–2026). Study selection followed PRISMA guidelines. Evidence was synthesised using an Evidence-to-Decision framework. A national survey of screening programmes was also performed. Results: Three critical evidence gaps represent key challenges for implementation. First, the early age of clinical onset—often within the first week of life—may precede the availability of screening results, limiting timely intervention. Second, heterogeneous screening strategies, including variability in biomarkers and cut-off thresholds, lead to uncertainty in test performance and hinder comparability across programmes. Third, evidence on the benefits of presymptomatic treatment is limited and inconclusive, with no robust data demonstrating improved long-term outcomes. Conclusions: Key uncertainties in timing, test performance and outcomes limit conclusions on the effectiveness and safety of newborn screening for GALT. Addressing these challenges is essential to support consistent and equitable implementation across health systems. Strengthening evidence on long-term benefits and promoting standardisation of screening protocols should be prioritised. Key messages: • Key evidence gaps in timing, testing and outcomes challenge implementation of galactosemia screening. • Stronger evidence and standardisation are needed for consistent and equitable screening decisions.
SN - 1101-1262
SN - 1464-360X
ER -