Revolutionizing newborn screening: the role of omics technologies in identifying inborn error of metabolism

Over the last 20 years, improvement in development and application of omics technology has significantly improved newborn screening for inherited metabolic abnormalities. Early intervention was possible with traditional screening methods that are still in practice today and could largely rely on biochemical testing. This greatly decreased the risk of diseases and mortality from inborn errors of metabolism. These conventional approaches frequently lack the depth and precision needed to detect, at an early stage, a larger class of hereditary metabolic abnormalities. As a result, omics technologies will broaden and improve neonatal screening through analyses of transcriptomics, proteomics, metabolomics, and genomes. In genomics, next-generation sequencing makes it possible to identify genetic variants in precise order that are linked to hundreds of metabolic illnesses, even before symptoms appear. Proteomics and metabolomics provide the methods for quantifying proteins and metabolites respectively, thereby granting some very precious insights into the functional state of metabolism. This is also supported by transcriptomics i.e., study of RNA expression patterns as it aids in understanding changes that occur in gene expression due to IEMs. If these omics technologies are introduced into newborn screening programs, both better detection sensitivity and broader coverage offer the potential to identify more complex and rare metabolic diseases that also became leading causes for false negative results in past incarnations. Such an approach improves the accuracy of diagnosis and allows personalised therapy depending on which intervention works better as indicated by the metabolic profile. In addition, the exploitation of omics approaches might result in identification of entirely new markers further extending the list of diseases that can be screened using a non-invasive test In essence, this will signify a tectonic shift towards the adoption of omics technology in neonatal screening for uncovering inheritable metabolic disorders in novel ways that are extensive, precise and individualized. These technologies will lead to much better outcomes for the infants in this population given increased accuracy of diagnosis and earlier treatment, tailored to the specific cause of each patient.