Pediatricians Urged to Use Genome Tests to Diagnose Kids Early
The American Academy of Pediatrics’ June 23, 2025 clinical report urges general pediatricians to use a genetics first approach when evaluating children with intellectual disability or global developmental delay. It recommends beginning with detailed phenotype-driven assessment—examining history, growth, dysmorphic features, and targeted tests—and, when no clinical diagnosis is evident, progressing to hypothesis‑free genetic testing. First-tier testing now includes genome sequencing, given the high diagnostic yield. Second-tier tests cover Fragile X and metabolic screens, with third-tier options like mitochondrial DNA and imprinting studies. The report emphasizes the importance of pretest counseling around uncertain or incidental findings and advises ongoing engagement with specialists such as neurologists or clinical geneticists.
