June 18, 2026

OpenAI o3 helps physicians confirm 18 rare-disease diagnoses doctors had missed

Boston Children's Hospital, Harvard, and OpenAI ran o3 Deep Research over 376 unsolved pediatric genetic cases, producing 18 confirmed new diagnoses (+4.8% yield), published in NEJM AI. Every finding was human-reviewed, ACMG/AMP-classified, and confirmed in a CLIA-certified lab.