Using AI to help physicians diagnose rare genetic diseases affecting children

Researchers used OpenAI o3 Deep Research, an AI reasoning model, to re-analyze 376 previously unsolved rare genetic disease cases by connecting clinical data, genetic variants, and scientific literature into evidence-based explanations for human experts to review. After specialist evaluation and clinical confirmation, the AI-assisted workflow helped establish new diagnoses in 18 cases (4.8% additional diagnostic yield), with the model generating hypotheses rather than making medical decisions itself. This demonstrates how periodic AI-assisted reanalysis could help scale the process of solving rare disease cases as medical knowledge evolves.