Using AI to help physicians diagnose rare genetic diseases affecting children

Summary

Researchers from Boston Children's Hospital's Manton Center, Harvard University and OpenAI used the OpenAI o3 Deep Research model to reanalyze 376 previously unsolved rare-disease cases. The model produced evidence-linked candidate explanations that specialists reviewed, and physicians established diagnoses in 18 cases, an additional diagnostic yield of 4.8%. The study was published June 18, 2026, in NEJM AI.

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