China launches AI model to diagnose rare diseases

PUMCH-GENESIS currently can flag possible rare genetic diseases or complex neurodevelopmental conditions promptly

China has launched an AI model to diagnose rare genetic diseases more quickly and accurately, state-run media reported. PUMCH-GENESIS aims to bridge the gap in diagnosing diseases by making the process faster and easier as delayed diagnosing and misdiagnosing can be critical for patients, according to the Xinhua news agency. The model can promptly flag possible rare genetic diseases or complex neurodevelopmental conditions while also offering medical recommendations including specialized departments for consultation and necessary examinations. The model can currently handle preliminary diagnosis consultations and appointment bookings for patients while the next step will focus more on medical professional aspects, including medical note generation, genetic interpretation, and hereditary counseling support. The world's first rare disease for Chinese demographic characteristics was trained on Chinese demographics with minimal initial data on clinical expertise. Developed in coordination with the Chinese Academy of Sciences and Peking Union Medical College Hospital (PUMCH), the AI is currently in its trial phase. The AI model is expected to be integrated into the hospital’s online multidisciplinary rare disease clinic in the future, according to the news agency.