Hanchard Matthew S
iHuman, Social Research Institutes, University of Sheffield, The Wave, 2 Whitham Road, S10 2AH, Sheffield, UK.
Orphanet J Rare Dis. 2025 Mar 7;20(1):107. doi: 10.1186/s13023-025-03634-2.
Rare disease prevalence rates are increasing rapidly worldwide, as are the cost of orphan indication drugs used to treat them, posing significant strain on many healthcare systems. In response, a set of tensions have arisen within academic, activist, advocacy, industry, and policy circles over orphan drug pricing. Yet there has to date been no unifying review of the literature engaging critically with these tensions. Addressing this gap, the article examines the narratives in circulation around orphan pricing, the traditions and epistemic bases they draw on, and their points of contestation/coalescence. It does so through a meta-narrative literature review, finding three core narratives. One involves dispute over outlay costs for developing new orphan drugs, often drawing on normative health economics with a base in practical idealism. It argues that (bio)pharmaceutical manufacturers misuse policy incentives to profit excessively through monopoly capitalism. A second narrative draws on both empirical and normative health economics (often steeped in empiricism paired with a utilitarian standpoint). It contends that high orphan drug prices signify a healthy market and justifiably support longer-term innovation while promoting wider equity of access. A third (midway) narrative draws on the sociology of health and innovation studies alongside normative health economics and health policy studies to suggest alternative models of innovation and valuation. As a unifying meta-narrative, the review finds a sustained call for reform, centred on welfare economics and resource allocation, where current incentives and regulations are held to be insufficient. Overall, the article recommends that regulators look to alternative models of innovation steeped in social science thinking to modify reviewing appraisal, coverage, and reimbursement processes for orphan drugs. Also, that greater patient inclusion and transparency would help include a wider range of intangible social factors that rare disease patients face in accessing high priced orphan drugs.
全球范围内罕见病的患病率正在迅速上升，用于治疗这些疾病的孤儿适应症药物的成本也在上升，这给许多医疗系统带来了巨大压力。作为回应，学术界、维权人士、倡导者、行业和政策界围绕孤儿药定价出现了一系列紧张关系。然而，迄今为止，尚未有对这些紧张关系进行批判性探讨的文献综述。为了填补这一空白，本文研究了围绕孤儿药定价流传的各种说法、它们所依据的传统和认知基础，以及它们的争议/融合点。通过元叙事文献综述，本文发现了三个核心叙事。一个涉及开发新孤儿药的支出成本争议，通常借鉴基于实践理想主义的规范健康经济学。它认为（生物）制药商滥用政策激励措施，通过垄断资本主义过度获利。第二个叙事借鉴了实证和规范健康经济学（通常沉浸在实证主义与功利主义立场相结合的理论中）。它认为，高昂的孤儿药价格意味着一个健康的市场，合理地支持长期创新，同时促进更广泛的公平获取。第三个（中间立场）叙事借鉴了健康社会学和创新研究，以及规范健康经济学和健康政策研究，以提出创新和估值的替代模式。作为一个统一的元叙事，该综述发现人们持续呼吁进行改革，以福利经济学和资源分配为核心，认为当前的激励措施和监管不足。总体而言，本文建议监管机构寻求基于社会科学思维的创新替代模式，以修改孤儿药的审评、评估、覆盖和报销流程。此外，更大程度地纳入患者并提高透明度，将有助于纳入罕见病患者在获取高价孤儿药时面临的更广泛的无形社会因素。
