BEIJING: China has launched its first AI model for rare disease diagnosis, PUMCH-GENESIS.
China’s first AI large language model was jointly developed by Peking Union Medical College Hospital (PUMCH) and the Chinese Academy of Sciences.
The model quickly analyzes symptoms and suggests potential conditions like Rett syndrome or Angelman syndrome. It also recommends specialists and necessary tests.
Public testing of PUMCH-GENESIS has begun. The model can assist with preliminary diagnoses and appointment bookings. Rare diseases are uncommon, but their variety makes diagnosis difficult. Many patients face misdiagnosis and delays. AI tools like PUMCH-GENESIS help address these issues.
PUMCH president Zhang Shuyang said the hospital has long focused on AI-assisted diagnostics. The model is the first designed for China’s population. It improves accuracy and speeds up confirmation times.
Traditional AI struggles with rare diseases due to limited data. To solve this, researchers combined small datasets with expert knowledge. This approach enhances decision-making during diagnosis.
Zhang called the model a major step in rare disease care. As China’s top rare disease center, PUMCH will further integrate AI into clinical practice. The hospital aims to strengthen primary healthcare and refine the medical system. This will help families receive faster diagnoses and treatment.
During public testing, patients can use the model for initial consultations and appointments. The next phase will introduce tools for doctors, including medical note generation and genetic counseling. PUMCH plans to integrate PUMCH-GENESIS into its online rare disease clinic. Eventually, the model will reach all hospitals in China’s rare disease network.
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China, AI model, Disease diagnosis, PUMCH-GENESIS, Peking Union Medical College Hospital, PUMCH, Chinese Academy of Sciences,
