China has launched PUMCH-GENESIS, an AI model designed to speed up and improve the diagnosis of rare genetic diseases. Developed with the Chinese Academy of Sciences, it helps detect conditions, recommend specialists, and manage appointments.
China has introduced an AI model, PUMCH-GENESIS, to enhance the diagnosis of rare genetic diseases, state media reported.
According to Xinhua news agency, the model accelerates and improves diagnoses, addressing delays and misdiagnoses that can be critical for patients. It identifies possible rare genetic or neurodevelopmental conditions and provides medical recommendations, including specialist consultations and necessary tests.
Currently, it handles preliminary diagnoses and appointment bookings, with future plans to support medical note generation, genetic interpretation, and hereditary counseling.
Developed with the Chinese Academy of Sciences and Peking Union Medical College Hospital (PUMCH), the AI is in its trial phase and is expected to be integrated into PUMCH’s online rare disease clinic.
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