Emerging clinical guidelines and research underscore the growing role of genomic sequencing in rare and pediatric diseases for improving diagnosis and outcomes. The American Academy of Pediatrics has recommended whole-genome and whole-exome sequencing as first-tier diagnostic tests for children with global developmental delay or intellectual disability. Genetic testing in small for gestational age infants reveals complex genetic heterogeneity, advocating for comprehensive genomic analyses. Partnerships between genomic diagnostic firms and healthcare providers aim to expand access and reimbursement coverage, reinforcing the momentum towards precision medicine approaches in pediatrics and rare disease management.