罕见病用药可及“最后一公里”梗阻 专项基金能否打通？

Core Viewpoint - The article emphasizes the urgent need for a specialized fund for rare diseases in China to ensure that patients can access and afford necessary medications, highlighting the systemic gaps in the current healthcare framework [1][11]. Policy Framework - The national policy framework for rare diseases is becoming clearer, with approximately 100 rare disease drugs included in the insurance directory by 2025, covering 42 disease types, but basic insurance only addresses fundamental issues [2][6]. - The need for a "second battlefield" in the high-value rare disease medication sector is highlighted, as relying solely on basic insurance is insufficient [2]. Patient Statistics - There are over 7,000 known rare diseases globally, affecting approximately 3.5% to 5.9% of the population, translating to 260 million to 450 million people worldwide [2]. - In China, around 1,400 rare diseases are recognized, with an estimated 20 million patients, indicating a significant healthcare challenge [2]. Case Study: Gaucher Disease - Gaucher disease serves as a key example of the challenges in medication access, with about 3,000 patients in China facing annual treatment costs of approximately 1 million RMB [3]. - Shanghai's previous model for supporting Gaucher patients through various funding sources is now at risk of discontinuation, highlighting the need for a sustainable system [3][4]. Payment Models and Challenges - The DRG/DIP payment model creates financial disincentives for hospitals to treat rare disease patients, complicating access to necessary care despite medications being included in insurance [4]. - The article points out that the current fragmented policies lead to gaps in patient support, necessitating a more integrated approach [7]. Proposed Solutions - Establishing a local rare disease special fund is seen as a priority to address policy fragmentation and create a cohesive support system for patients [7]. - The fund would integrate various resources into a systematic "fund pool," allowing for streamlined access to support [7]. Multi-layered Support System - A multi-layered social security system is essential, with suggestions for enhancing commercial health insurance and expanding provincial rare disease medication support mechanisms [9][10]. - The Jiangsu model exemplifies effective provincial coordination and special protections for specific diseases, significantly reducing patient financial burdens [10]. Conclusion - The establishment of a specialized fund for rare diseases is not a rejection of existing systems but a necessary enhancement to ensure comprehensive support for patients [11].