Department of Pediatrics, Health Research Innovation Centre, University of Calgary, Room 3C56, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.
Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada.
Pharmacoeconomics. 2023 Jul;41(7):803-818. doi: 10.1007/s40273-023-01262-x. Epub 2023 Apr 7.
Rare diseases place a significant burden on patients, families, the healthcare system, and society. Evidence on the socioeconomic burden of rare disease is limited and mostly reflects diseases where treatments are available. We developed a framework encompassing recommended cost elements for studies of the socioeconomic burden of rare diseases.
A scoping review, conducted in five databases (Cochrane Library, EconLit, Embase, MEDLINE, and APA PsycINFO), identified English language publications from 2000 to 2021 presenting frameworks developed for determining, measuring or valuing costs for rare or chronic diseases. Cost elements were extracted and used to develop a literature-informed framework. Structured feedback was gathered from experts in rare diseases, health economics/health services, and policy research to revise the framework.
Of 2990 records identified, eight papers were included and informed our preliminary framework; three focused on rare disease and five on chronic disease. Following expert input, we developed a framework consisting of nine cost categories (inpatient, outpatient, community, healthcare products/goods, productivity/education, travel/accommodation, government benefits, family impacts, and other), with several cost elements within each category. Our framework includes unique costs, added from the expert feedback, including genetic testing to inform treatment, use of private laboratories or out-of-country testing, family involvement in foundations and organizations, and advocacy costs for special access programs.
Our work is the first to identify a comprehensive list of cost elements for rare disease for use by researchers and policy makers to fully capture socioeconomic burden. Use of the framework will increase the quality and comparability of future studies. Future work should focus on measuring and valuing these costs through onset, diagnosis, and post-diagnosis.
罕见病给患者、家庭、医疗保健系统和社会带来了巨大的负担。关于罕见病的社会经济负担的证据有限，且主要反映了有治疗方法的疾病。我们制定了一个框架，其中包含了研究罕见病社会经济负担的建议成本要素。
在五个数据库（Cochrane Library、EconLit、Embase、MEDLINE 和 APA PsycINFO）中进行了范围广泛的回顾，确定了 2000 年至 2021 年期间以英文发表的报告，这些报告介绍了为确定、衡量或评估罕见病或慢性病成本而制定的框架。提取成本要素并用于开发一个受文献启发的框架。从罕见病、健康经济学/卫生服务和政策研究方面的专家那里收集结构化反馈，以修订该框架。
在确定的 2990 份记录中，有 8 篇论文被纳入并为我们的初步框架提供了信息；其中三篇专注于罕见病，五篇专注于慢性病。在专家的反馈意见后，我们制定了一个由九个成本类别（住院、门诊、社区、医疗产品/商品、生产力/教育、旅行/住宿、政府福利、家庭影响和其他）组成的框架，每个类别都有几个成本要素。我们的框架包括从专家反馈中增加的独特成本，包括为确定治疗方案而进行的基因测试、使用私人实验室或国外测试、家庭参与基金会和组织、以及特殊准入计划的倡导成本。
我们的工作首次确定了一个罕见病全面的成本要素清单，供研究人员和决策者用于充分捕捉社会经济负担。该框架的使用将提高未来研究的质量和可比性。未来的工作应重点关注通过发病、诊断和诊断后来衡量和评估这些成本。
