The "China model" for rare disease governance: Policy framework, local implementation, and pathways for optimization

Globally, the prevention and treatment of rare diseases is still constrained by limited diagnostic and therapeutic capacity, restricted drug accessibility, and disparities in medical security systems. In response, China has developed a distinct "China Model" of rare disease governance, characterized by national policy leadership and coordinated local implementation. This study systematically reviews policies issued between 2009 and 2026 and it analyzes five domains: i) prevention and screening, ii) list-based governance, iii) clinical diagnosis and treatment systems, iv) drug accessibility, and v) payment guarantees. Shandong Province is examined as a representative case. Findings show that the central government has established unified standards through two nationally endorsed rare disease lists covering 207 conditions, supported by clinical guidelines and a national collaborative network for diagnosis and treatment of those diseases. Regulatory incentives for drug review and approval have facilitated the inclusion of 126 treatments for patients with rare diseases in the National Basic Medical Insurance reimbursement list, forming an integrated policy framework spanning identification, diagnosis, treatment, and financial protection. At the provincial level, Shandong is aligned with national directives by integrating its case registration system with the national platform, enhancing quality control across its clinical network and developing a multilevel payment mechanism. The core of the "China Model" is the enhancement of clinical capacity through standardized systems and networked organizations, combined with multilevel risk-sharing mechanisms. However, governance challenges persist, including weak inter-organizational policy coordination, barriers to drug accessibility, fragmented coverage schemes, and an underdeveloped data governance infrastructure. Addressing these challenges requires enhanced end-to-end policy implementation and institution of effective local practices at the national level.