AI Model Helps Diagnose Rare Genetic Diseases in Children That Previously Puzzled Physicians

A study published in NEJM AI demonstrates that an OpenAI reasoning model helped physicians diagnose 18 previously unsolved cases of rare genetic diseases in children. The AI system reanalyzed de-identified clinical and genomic information from 376 cases, surfacing evidence-linked candidate explanations that led to an additional diagnostic yield of 4.8% after years of expert analysis.