Newborn Screening Expansion through Metabolomics: Evaluating Benefits, Harms, and Decision Frameworks for Public Health

Serunjogi Ruth

Department of Clinical Pharmacy Kampala International University Uganda

Email: ruth.serunjogi@studwc.kiu.ac.ug

ABSTRACT

Newborn screening is a cornerstone of preventive public health, enabling the early identification of congenital and metabolic disorders for which timely intervention can substantially reduce morbidity and mortality. Advances in metabolomics now present an opportunity to expand newborn screening beyond current targeted assays, allowing the simultaneous measurement of hundreds of metabolites from dried blood spots and thereby broadening disease coverage and improving diagnostic accuracy. This paper critically evaluates the expansion of newborn screening through metabolomics, examining its scientific rationale, methodological foundations, anticipated public health benefits, and potential harms. We assess analytical and biostatistical considerations, including assay validation, data interpretation, false-positive rates, incidental findings, and long-term outcome uncertainty. Particular attention is given to health equity, resource use, sustainability, and the ethical, legal, and governance challenges associated with large-scale population screening. Drawing on established benefit–harm assessment models and public health decision frameworks, the paper outlines criteria for policy adoption and responsible implementation. We conclude that metabolomics-based expansion of newborn screening holds significant promise for improving population health outcomes, but its adoption must be guided by rigorous evidence, transparent governance, stakeholder engagement, and equity-focused implementation strategies to ensure that benefits clearly outweigh harms at the population level.

Keywords: Newborn screening, Metabolomics, Public health decision frameworks, Benefit–harm assessment and Health equity

CITE AS: Serunjogi Ruth (2026). Newborn Screening Expansion through Metabolomics: Evaluating Benefits, Harms, and Decision Frameworks for Public Health. IAA Journal of Biological Sciences 14(1):114-124. https://doi.org/10.59298/IAAJB/2026/141114124