Core Insights - Approximately 100 rare disease medications have been included in the medical insurance catalog, covering 42 types of rare diseases [1] - In 2024, the medical insurance fund will pay 8.6 billion yuan for rare disease medications, accounting for 7.7% of the total payment for medications during the agreement period [1] - The establishment of a multi-layered guarantee system for rare diseases is underway, combining basic medical insurance, major illness insurance, and medical assistance [1][2] Group 1 - The National Healthcare Security Administration is actively promoting the inclusion of medications in the insurance catalog and the construction of a "dual-channel" supply mechanism to improve drug accessibility [1][2] - The number of hospitals in the national rare disease diagnosis and treatment collaboration network has increased from 324 in 2019 to 419 currently [1][2] - The national rare disease direct reporting system has registered a total of 1.64 million cases, with 1.5 million confirmed cases [2] Group 2 - Future selection criteria for rare disease medications should consider severity, intervention methods, and social impact, rather than just incidence rates [3] - The entry of rare disease medications into the catalog must prioritize clinical and patient benefits, focusing on drugs with clear biomarkers and measurable efficacy [3] - There is a need to challenge the perception that rare disease drugs must be high-priced, as some production technologies are mature and costs are controllable [3] Group 3 - Emphasis on refined management of rare disease medications is crucial due to their high cost and long-term prescription nature [3] - Collaboration among over 400 institutions in the national rare disease diagnosis and treatment collaboration network is essential for effective management practices [3][4] - The 2025 China Rare Disease Conference was co-hosted by multiple organizations, highlighting the collective effort in addressing rare diseases [4]

专家指当前各界对立法的细节和技术路径还有分歧 近年来，各界对罕见病进行立法的呼声增大，在两会期间，也涌现出不少与罕见病相关的议案提案。当 前，我国有超过2000万的罕见病患者，他们长期面临诊断难、用药难、经济负担重的现实困境，缺乏制 度性和系统性的保障。推动对罕见病的系统性立法，在不少业内人士看来，是提高罕见病领域政策持久 性与稳定性的重要解法。 不过，尽管"罕见病立法"的话题一直被讨论，但是目前在制度层面，还没有太多进展。 "如果我们要出台一部罕见病相关的法律，里面应包括哪些内容？大家对包括的要素是否已经形成共 识？"在朱坤看来，目前不同部门、专家和行业对于罕见病相关法律的具体要素还存在较大的分歧，这 是阻碍立法推进步伐缓慢的主要原因。 争论首先出现在如何定义"罕见病"上。目前我国没有官方的罕见病定义，罕见病是以目录形式管理，目 前国家一共发布了两批罕见病目录，共有207种罕见病被纳入目录。"但全球罕见病多达1万多种，中国 的罕见病目录制度存在局限性，会有严重滞后，建议明确罕见病的界定标准。"蔻德罕见病中心创始 人、主任黄如方表示。 立法，则是最具刚性的顶层设计。蔻德罕见病中心于2024年发布的《中国罕见病 ...