Evolution and synergy of healthcare security policies for rare diseases in China: a quantitative content analysis

Background: Managing rare diseases presents substantial challenges to achieving universal health coverage. Despite growing policy interest, limited research has explored the evolution and synergy of healthcare security policies targeting rare diseases. This study addresses this gap through a case study of China. Methods: An innovative analytical framework was developed, structured around three dimensions of policy synergy: horizontal, vertical, and temporal. A comprehensive dataset of national and provincial policy documents related to healthcare security for rare diseases was systematically collected. Analytical techniques included quantitative content analysis, word frequency analysis, and semantic network analysis. Results: A total of 314 policies enacted between 2001 and 2025 remained effective at the time of data collection, showing a general upward trend in both quantity and policy strength. However, the majority of policies were notices and announcements, which typically carry lower enforcement authority than ordinances and regulations. While a diverse array of policy instruments was employed, horizontal synergy across sectors remained limited. Vertically, national policies emphasized screening and support for children with rare diseases, whereas provincial policies focused more on outpatient service subsidies. Conclusion: Rare diseases have gained increasing attention within China's healthcare security policy landscape. Nonetheless, significant gaps in horizontal and vertical policy synergy persist. A systems-based approach is recommended to enhance policy integration and effectiveness.