OpenAI model helped find 18 rare disease diagnoses in old cases

Researchers from Boston Children’s Hospital, Harvard University, and OpenAI rechecked 376 rare disease cases that had stayed unsolved after earlier expert review. The cases included children with neurodevelopmental conditions, people with rare neuromuscular disease, children and teens with early psychosis, and pediatric sudden unexpected death cases. OpenAI o3 Deep Research connected symptoms, family data, genomic variant tables, and scientific papers to suggest possible causes for experts to review.

After medical review, extra testing, and clinical lab confirmation, physicians confirmed 18 diagnoses, adding a 4.8% diagnostic yield. The results were 10 of 100 neurodevelopmental cases, 4 of 61 neuromuscular cases, 2 of 200 pediatric sudden death cases, and 2 of 15 early psychosis cases. The model did not diagnose patients or make medical decisions.

It produced leads that qualified experts checked through normal clinical processes. The study did not measure time saved, cost, doctor workload, false positives, or changes in care.