Multiomics, next-generation, and long-read sequencing approaches have transformed the practice of medical genetics. Complex cases often require several person-hours to make sense of the tens of thousands to millions of variants and biochemical patterns in each patient. Availability of massive datasets challenges traditional analytical and interpretive approaches. Artificial intelligence offers powerful ways to handle the growing volume and complexity of genomic and phenotypic data in clinical genetics. It is already influencing several areas of practice, including variant prioritization and interpretation, rare disease screening, and aspects of precision medicine. However, translating these advances into routine clinical use has proven difficult due to the underrepresentation of various populations, ethical issues, and issues related to data governance. As the majority of these tools are used in isolation, separate from hospital information systems and routine reporting pipelines, they are not optimally utilized. With continued progress in precision medicine and genomics, these AI genomic tools are likely to be integrated more into medical genetics practice, rather than remaining restricted to specialised or experimental settings.

Necrotizing enterocolitis (NEC) is one of the most catastrophic gastrointestinal emergency occurring predominantly in preterm neonates. It contributes to substantial neonatal morbidity and mortality. Disturbances in the intestinal microbiome are crucial to disease pathogenesis. In preterm infants, an immature intestinal barrier, dysregulated immune responses, and environmental exposures altogether predispose to alteration in microbial colonization and intestinal inflammation. This review was done to present the current evidence on gut microbiome alterations associated with NEC in preterm infants. A systematic search of the MEDLINE and EMBASE databases was performed using search strategy related to prematurity, intestinal microbiota, and necrotizing enterocolitis. A total of 42 studies assessing microbial composition, microbial progression, or microbial functional patterns in relation to NEC were included. Across the included studies, NEC was commonly preceded by reduced microbial diversity, delayed maturation of anerobic communities, and expansion of Proteobacteria, particularly Enterobacteriaceae family such as Klebsiella and Escherichia. Longitudinal studies further showed that these microbial changes may become evident days to weeks before clinical disease, suggesting a potential window for early risk identification. Functional analyses also showed alterations in microbial metabolic pathways, including short-chain fatty acids, tricarboxylic acid intermediates, volatile compounds, and viral signatures that may lead to epithelial injury and inflammatory signaling. Clinical and environmental factors including antibiotic exposure, mode of delivery, feeding practices, and NICU microbial ecosystem are important determinants of neonatal gut microbiome development. Thus, the current evidence supports a reproducible pattern of intestinal dysbiosis preceding NEC. Better understanding of microbiome dynamics may aid early risk stratification and support microbiome-targeted preventive strategies in vulnerable preterm populations.