从四年到四周，中国罕见病“确诊难”正加速破局

Core Insights - The report highlights the growing recognition of rare diseases in China, with over 4,000 known rare diseases affecting approximately 20 million patients, indicating that rare diseases are not marginal medical issues but significant public health concerns [2][3]. Regulatory and Approval Landscape - In 2025, China approved around 48 rare disease drugs, with more than 17 coming from domestic companies, reflecting a shift towards local innovation in rare disease treatment [2]. - The National Health Commission has included rare diseases in its annual medical quality improvement goals, emphasizing the need for better diagnosis and treatment protocols [3][5]. Diagnostic Improvements - The average diagnosis time for rare diseases has significantly decreased from four years to less than four weeks, with diagnostic costs reduced by 90% [5]. - The establishment of over 400 rare disease diagnostic centers across China has facilitated better collaboration and reduced the time from disease onset to diagnosis through mechanisms like remote consultations and case sharing [4][5]. Technological Advancements - The introduction of AI tools, such as the DeepRare system, has improved diagnostic accuracy for rare diseases, achieving an initial accuracy rate of 57.18%, which can exceed 70% when combined with genetic data [6][7]. - Other AI models, like "哪吒·灵童" and "协和·太初," have been developed to provide rapid diagnostic support and tailored treatment plans for rare diseases, particularly in pediatric cases [7][8]. Industry Collaboration and Future Directions - The report indicates a trend where technology and internet companies are playing a supplementary role in addressing the challenges of rare disease diagnosis and treatment, particularly in under-resourced areas [8]. - The ongoing development of a comprehensive policy framework for rare diseases in China will be crucial for integrating effective practices from the private sector with public health objectives [8].