Document Type : review article

Author

Department of Neonatology, Niloufer Hospital, India.

Abstract

Background: Preterm birth, which affects 10% of global births, increases the risks of respiratory distress syndrome (RDS) and sepsis. The varied treatment responses necessitate personalized therapies. Precision medicine, utilizing genomic and metabolomic data, offers tailored interventions to enhance outcomes in neonatal intensive care units (NICUs).
Objective: The Objective is to evaluate genomic and metabolomic advancements for customizing treatments for RDS and sepsis in preterm infants, highlighting applications, limitations, and future prospects.
Methods: A narrative review synthesized literature from 2015 to 2024 on genomic profiling, pharmacogenomics, and metabolomics in neonatal care. The literature was sourced from PubMed, Scopus, and DOAJ. Studies were included if they focused on preterm infants (<37 weeks’ gestation) with RDS or sepsis, evaluated genomic or metabolomic interventions, and reported clinical outcomes. Priority was given to studies with clear methodologies, including prospective or retrospective designs, and those addressing diverse populations (e.g., geographic or ethnic variability) where possible. The validation status of biomarkers was noted to assess clinical applicability. Exclusion criteria included studies lacking a neonatal focus or peer-reviewed publication. Data were qualitatively synthesized to highlight applications, limitations, and future prospects.
Results: Genomic profiling identifies SFTPB variants, guiding surfactant therapy for RDS with 20–30% dosing variability. Pharmacogenomics optimizes sepsis antibiotic regimens, with CYP2C19 variants reducing vancomycin toxicity by 15%. Metabolomic biomarkers, like phosphatidylcholines and lactate, enable early diagnosis of RDS and sepsis with 85–90% sensitivity. Challenges include data complexity, ethical issues, and limited access in low-resource settings.
Conclusion: Personalized medicine improves neonatal care through individualized therapies but requires validation, cost reduction, and ethical frameworks for equitable implementation.

Keywords

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