By Matthew Brady 
Public testing has begun for China’s first LLM dedicated to rare diseases, PUMCH-GENESIS, which can conduct preliminary diagnostic consultations and schedule appointments. The model was jointly developed by Peking Union Medical College Hospital (PUMCH) and the Institute of Automation, Chinese Academy of Sciences.
Built on China’s extensive rare disease knowledge and genetic data, PUMCH-GENESIS is the world’s first rare disease AI model tailored to Chinese demographic characteristics. It enhances diagnostic accuracy and efficiency for clinicians while reducing the time needed for confirmation.
During the ongoing public testing phase, patients can use the model for preliminary consultations and appointment bookings, engaging in multi-round dialogues to receive initial diagnostic guidance. The next phase will introduce clinician-focused tools, including medical note generation, genetic interpretation, and hereditary counselling support.
PUMCH president Zhang Shuyang stated that developing an AI-assisted diagnostic tool has been a long-term focus for the hospital’s rare disease expert team.
Traditional AI models struggle with rare diseases due to fragmented case data and limited training samples. To address this, the research team pioneered a novel technical framework that integrates minimal initial data with clinical expertise, enabling continuous decision support throughout the diagnostic process.
As the national leader in rare disease treatment, PUMCH aims to further integrate AI into clinical practice to strengthen primary healthcare capacities and refine the tiered medical system, bringing timely diagnosis and treatment to more families, Zhang added.
Plans are underway to integrate PUMCH-GENESIS into the hospital’s online multidisciplinary rare disease clinic, with eventual deployment across all member hospitals of the national rare disease collaborative network.
