AI solves 18 medical mysteries in ‘total game changer’ for patients
A new study published in NEJM AI indicates that OpenAI’s o3 model can help diagnose previously unsolved medical mysteries. The AI model, released in April 2025, assisted in identifying new diagnoses for 18 children at Boston Children’s Hospital, including those with rare neurodevelopmental and neu
By Rachel Dobkin
A new study published in NEJM AI indicates that OpenAI’s o3 model can help diagnose previously unsolved medical mysteries.
The AI model, released in April 2025, assisted in identifying new diagnoses for 18 children at Boston Children’s Hospital, including those with rare neurodevelopmental and neuromuscular disorders.
Researchers analysed 376 genomes from undiagnosed patients, with the AI model successfully identifying nearly five per cent of new diagnoses, a result described as a “total game changer.”
One patient, Kyra Benton, who had experienced undiagnosed symptoms since age nine, finally received a diagnosis of myofibrillar myopathy with the aid of the AI.
The study highlights that the AI model functions as a diagnostic tool, processing patient data and doctors' notes, with human review essential for final diagnoses, and is not intended for self-diagnosis.