Health Technology and Policy Unit, School of Public Health, University of Alberta, Edmonton, T6G 1C9, Canada.
J. L. Glennie Consulting Inc., Knowledge Broker Consultant, PRISM Research Collaborative, Aurora, Canada.
Orphanet J Rare Dis. 2022 Jul 8;17(1):258. doi: 10.1186/s13023-022-02397-4.
Drugs for rare diseases (DRDs) offer important health benefits, but challenge traditional health technology assessment, reimbursement, and pricing processes due to limited effectiveness evidence. Recently, modified processes to address these challenges while improving patient access have been proposed in Canada. This review examined processes in 12 jurisdictions to develop recommendations for consideration during formal government-led multi-sectoral discussions currently taking place in Canada.
(i) A scoping review of DRD reimbursement processes, (ii) key informant interviews, (iii) a case study of evaluations for and the reimbursement status of a set of 7 DRDs, and (iv) a virtual, multi-stakeholder consultation retreat were conducted.
Only NHS England has a process specifically for DRDs, while Italy, Scotland, and Australia have modified processes for eligible DRDs. Almost all consider economic evaluations, budget impact analyses, and patient-reported outcomes; but less than half accept surrogate measures. Disease severity, lack of alternatives, therapeutic value, quality of evidence, and value for money are factors used in all decision-making process; only NICE England uses a cost-effectiveness threshold. Budget impact is considered in all jurisdictions except Sweden. In Italy, France, Germany, Spain, and the United Kingdom, specific factors are considered for DRDs. However, in all jurisdictions opportunities for clinician/patient input are the same as those for other drugs. Of the 7 DRDs included in the case study, the number that received a positive reimbursement recommendation was highest in Germany and France, followed by Spain and Italy. No relationship between recommendation type and specific elements of the pricing and reimbursement process was found.
Based on the collective findings from all components of the project, seven recommendations for possible action in Canada are proposed. These focus on defining "appropriate access", determining when a "full" HTA may not be needed, improving coordination among stakeholder groups, developing a Canadian framework for Managed Access Plans, creating a pan-Canadian DRD/rare disease data infrastructure, genuine and continued engagement of patient groups and clinicians, and further research on different decision and financing options, including MAPs.
治疗罕见病的药物（DRD）具有重要的健康效益，但由于疗效证据有限，它们对传统的卫生技术评估、报销和定价过程提出了挑战。最近，加拿大提出了一些改良的流程来应对这些挑战，同时改善患者的可及性。本研究考察了 12 个司法管辖区的流程，为加拿大目前正在进行的正式政府主导的多部门讨论制定建议。
（一）对罕见病报销流程进行范围界定审查，（二）进行关键知情人访谈，（三）对一组 7 种罕见病的评估和报销状况进行案例研究，以及（四）进行虚拟的、多方利益相关者协商务虚会。
只有英国国民保健制度（NHS England）有专门针对 DRD 的流程，而意大利、苏格兰和澳大利亚则对符合条件的 DRD 有修改后的流程。几乎所有的流程都考虑了经济评估、预算影响分析和患者报告的结果；但不到一半的流程接受替代指标。疾病严重程度、缺乏替代方案、治疗价值、证据质量和性价比都是所有决策过程中使用的因素；只有英国国家卫生与临床优化研究所（NICE England）使用成本效益阈值。除了瑞典，所有司法管辖区都考虑了预算影响。在意大利、法国、德国、西班牙和英国，针对 DRD 考虑了具体因素。然而，在所有司法管辖区，临床医生/患者的意见与其他药物相同。在案例研究中包括的 7 种 DRD 中，在德国和法国获得积极报销建议的数量最多，其次是西班牙和意大利。未发现建议类型与定价和报销流程的特定要素之间存在关系。
根据项目所有组成部分的综合调查结果，提出了加拿大的七项可能行动建议。这些建议侧重于定义“适当的准入”、确定何时不需要“全面”卫生技术评估、改善利益相关者群体之间的协调、制定加拿大管理准入计划框架、建立加拿大罕见病/罕见病数据基础设施、真正并持续让患者群体和临床医生参与、进一步研究不同的决策和融资选择，包括 MAPs。
