Ng Qin Xiang, Ong Clarence, Chan Kai En, Ong Timothy Sheng Khai, Lim Isabelle Jia Xuan, Tang Ansel Shao Pin, Chan Hwei Wuen, Koh Gerald Choon Huat
Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
NUS Yong Loo Lin School of Medicine, National University, Singapore, Singapore.
Health Econ Rev. 2024 Jun 19;14(1):42. doi: 10.1186/s13561-024-00519-1.
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.
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.
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.
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.
罕见病因其低发病率、相关残疾情况及随之而来的治疗费用，给医疗系统带来了巨大挑战。基因治疗的进展，如脊髓性肌萎缩症（SMA）的治疗方法，带来了新的治疗选择，但高昂的成本，以210万美元的Zolgensma®为例，构成了重大的财务障碍。本综述旨在比较澳大利亚、新加坡、韩国、英国和美国等高效医疗系统中罕见病治疗的资金筹集方式，以确定最佳实践和未来研究领域。
根据PRISMA-ScR指南以及Arksey和O'Malley的方法框架及后续建议，对电子数据库（Medline、EMBASE和Cochrane）以及这些国家卫生部门网站和致力于罕见病的主要国家组织的灰色文献进行了全面搜索。选择进行比较的国家是高收入、经济发达且医疗系统高效的国家：澳大利亚、新加坡、韩国、英国和美国。纳入标准侧重于2010年至2024年期间发表的详细描述药物审批流程、报销决定和资金机制的研究。
基于对18篇已发表论文和灰色文献的全面审查，各国采用了各种策略来平衡预算限制和获得罕见病治疗的机会。澳大利亚利用救命药物计划和风险分担协议。新加坡依赖罕见病基金，该基金与公众捐赠相匹配。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。英国依靠国家卫生与临床优化研究所（NICE）评估治疗的成本效益，并由创新药物基金提供支持。在美国，则采用联邦和州计划、私人保险和非营利支持相结合的方式。
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切实可行的解决方案。这些协议将支付与实际治疗效果挂钩，从而分散财务风险并促进持续的数据收集。各国应考虑采用并扩大这些协议，以平衡即时费用与长期利益，最终确保罕见病患者能够公平获得关键治疗。
