Rare diseases are characterized by low incidence rates, complex etiologies, and multi-system involvement. In China, the patient population exceeds 20 million, who face challenges such as difficulty accessing medical care, obtaining accurate diagnoses, and managing their conditions. To address these challenges, West China Hospital of Sichuan University has developed a comprehensive “pre-diagnosis, diagnosis, and post-diagnosis” management model for rare diseases, with a focus on “internet plus digital intelligence empowerment”. This approach enhances accessibility in the pre-diagnosis phase, improves diagnostic efficiency during diagnosis, and achieves full-cycle management post-diagnosis, establishing a continuous care system that ensures “medical support beyond the hospital”. This article introduces the innovative exploration and practical experience of West China Hospital of Sichuan University in the holistic management of rare diseases, and provide a reference for its subsequent promotion.
