背景:由于罕见疾病的低患病率,对医疗保健系统构成了巨大的挑战,相关残疾,以及随之而来的治疗费用。基因治疗的进展,例如脊髓性肌萎缩症(SMA)的治疗,引入了新的治疗选择,但是高昂的成本,以Zolgensma®为例,价值210万美元,存在巨大的财务障碍。这项范围审查旨在比较澳大利亚高性能卫生系统中罕见疾病治疗的资助方法。新加坡,韩国,英国(UK),美国(US),旨在确定最佳实践和未来研究领域。
方法:根据PRISMA-ScR指南和Arksey和O\'Malley的方法框架以及随后的建议,对电子数据库的全面搜索(Medline,EMBASE,和Cochrane)和来自卫生部门网站和致力于这些国家罕见疾病的领先国家组织的灰色文献。选择进行比较的国家是具有发达经济体和高性能卫生系统的高收入国家:澳大利亚,新加坡,韩国,英国,和美国。纳入标准侧重于详细说明药物批准过程的研究,报销决定和筹资机制,并于2010年至2024年出版。
结果:基于对18篇已发表论文和灰色文献的全面回顾,各国采用各种策略来平衡预算限制和获得罕见疾病治疗的机会。澳大利亚利用救生药物计划和风险分担协议。新加坡依赖罕见疾病基金,这与公众捐款相符。韩国的国民健康保险服务通过风险分担协议覆盖特定的孤儿药。英国依靠国家健康与护理卓越研究所(NICE)来评估治疗的成本效益,由创新药物基金支持。在美国,联邦和州计划的结合,使用私人保险和非营利支持。
结论:基于结果的风险分担协议为管理昂贵治疗的财务压力提供了一种实用的解决方案。这些协议将付款与实际治疗效果挂钩,从而分散财务风险并促进正在进行的数据收集。各国应考虑通过和扩大这些协议,以平衡眼前的开支和长期的利益,最终确保为患有罕见疾病的患者公平获得关键治疗。
BACKGROUND: Rare diseases pose immense challenges for healthcare systems due to their low prevalence, associated disabilities, and attendant treatment costs. Advancements in gene therapy, such as treatments for Spinal Muscular Atrophy (SMA), have introduced novel therapeutic options, but the high costs, exemplified by Zolgensma® at US$2.1 million, present significant financial barriers. This scoping review aimed to compare the funding approaches for rare disease treatments across high-performing health systems in Australia, Singapore, South Korea, the United Kingdom (UK), and the United States (US), aiming to identify best practices and areas for future research.
METHODS: In accordance with the PRISMA-ScR guidelines and the methodological framework by Arksey and O\'Malley and ensuing recommendations, a comprehensive search of electronic databases (Medline, EMBASE, and Cochrane) and grey literature from health department websites and leading national organizations dedicated to rare diseases in these countries was conducted. Countries selected for comparison were high-income countries with advanced economies and high-performing health systems: Australia, Singapore, South Korea, the UK, and the US. The inclusion criteria focused on studies detailing drug approval processes, reimbursement decisions and funding mechanisms, and published from 2010 to 2024.
RESULTS: Based on a thorough review of 18 published papers and grey literature, various strategies are employed by countries to balance budgetary constraints and access to rare disease treatments. Australia utilizes the Life Saving Drugs Program and risk-sharing agreements. Singapore depends on the Rare Disease Fund, which matches public donations. South Korea\'s National Health Insurance Service covers specific orphan drugs through risk-sharing agreements. The UK relies on the National Institute for Health and Care Excellence (NICE) to evaluate treatments for cost-effectiveness, supported by the Innovative Medicines Fund. In the US, a combination of federal and state programs, private insurance and non-profit support is used.
CONCLUSIONS: Outcome-based risk-sharing agreements present a practical solution for managing the financial strain of costly treatments. These agreements tie payment to actual treatment efficacy, thereby distributing financial risk and promoting ongoing data collection. Countries should consider adopting and expanding these agreements to balance immediate expenses with long-term benefits, ultimately ensuring equitable access to crucial treatments for patients afflicted by rare diseases.