AI-powered Diagnosis Revolutionizes Rare Disease Management in China

AI-powered Diagnosis for Rare Diseases in China

A new AI-powered tool called PUMCH-GENESIS is helping to diagnose rare diseases in China. Developed by Peking Union Medical College Hospital (PUMCH) and the Institute of Automation under the Chinese Academy of Sciences, the tool can identify potential rare genetic disorders or complex neurodevelopmental conditions based on patient symptoms.

PUMCH-GENESIS is the world's first rare disease model tailored to the Chinese population. It uses accumulated knowledge and genetic data from China to enhance diagnostic accuracy and efficiency for clinicians. This is particularly important for rare diseases, which are often difficult to diagnose due to their diverse symptoms and limited information.

The tool works by integrating minimal initial data with clinical expertise to provide decision support throughout the diagnostic process. This overcomes the limitations of traditional AI models, which often lack sufficient training data for rare diseases.

During a public testing phase, patients can access the tool's preliminary consultation and appointment functions. They can engage in multi-round dialogues to obtain initial diagnostic guidance. In the next phase, clinician-focused tools will be introduced, including medical note generation, genetic interpretation, and hereditary counseling support.

PUMCH-GENESIS is expected to be integrated into the hospital's online multidisciplinary rare disease clinic and eventually deployed to all member-hospitals of the national rare disease collaborative network. This will extend hope for timely diagnosis and treatment to more families affected by rare diseases.