Division of Bioethics and Healthcare Law, Institute for Cancer Control, National Cancer Center, 5-1-1 Tsukiji, Chuo-Ku, Tokyo, 104-0045, Japan.
Department of Public Policy, The Institute of Medical Science, The University of Tokyo, Minato-ku, Tokyo, Japan.
Orphanet J Rare Dis. 2023 Jun 8;18(1):143. doi: 10.1186/s13023-023-02762-x.
Rare diseases (RDs) may impose a considerable financial burden on patients and their families. Public acceptance is essential to ensure sustainable public systems supporting RDs, especially in countries with universal healthcare coverage, such as Japan. This study aimed to explore the public's understanding of RDs and identify crucial factors associated with the public acceptance of prioritizing financial support for RDs in Japan.
An online questionnaire was sent to 131,220 Japanese residents aged 20-69 years. The items included in the questionnaire were general interest in medical science and medical care, general knowledge regarding RDs and health care systems, opinions on the cost of medical care, opinions on the research and development of RDs and common diseases, and individual characteristics.
The responses of 11,019 respondents were analyzed. Several respondents agreed to partially cover the medication cost of adult and pediatric RDs (59.5% and 66.8%, respectively) with public funding. The major reasons for agreeing were the huge financial burden imposed on patients and their families, limited available treatment options, effects of RDs on the life planning of patients, and difficulties caused by RDs in the patient's social life. Furthermore, the respondents ranked RDs (56.0%) higher than common diseases (44.0%) for government funding for research and development. The reasons for supporting government-funded research and development for RDs included the lack of treatment options for numerous RDs (34.9%) and difficulty of studying RDs owing to the small number of researchers (25.9%). The chief reasons for supporting government-funded research and development for common diseases were the large number of affected patients (59.7%) and the possibility of more treatment options becoming available through the promotion of research and development (22.1%).
The general public considers burdens associated with daily living or finance more than the epidemiological characteristics of RD while making funding decisions, demonstrating that rarity was less prioritized. A gap appears to exist between the general public and RD experts regarding the understanding of the epidemiological characteristics of RD and its thresholds. This gap should be bridged to ensure that prioritization of financial support for RDs is accepted by the society.
罕见病（RDs）可能给患者及其家庭带来相当大的经济负担。公众的接受度对于确保支持 RD 的可持续公共系统至关重要，尤其是在像日本这样拥有全民医疗覆盖的国家。本研究旨在探讨公众对 RD 的理解，并确定与公众对优先为 RD 提供财务支持的接受度相关的关键因素。
向 131220 名年龄在 20-69 岁的日本居民发送了一份在线问卷。问卷中的项目包括对医学科学和医疗保健的一般兴趣、对 RD 和医疗保健系统的一般了解、对医疗保健费用的看法、对 RD 和常见疾病的研发的看法以及个人特征。
分析了 11019 名受访者的回答。一些受访者同意用公共资金部分覆盖成人和儿科 RD 的药物费用（分别为 59.5%和 66.8%）。同意的主要原因是 RD 给患者及其家庭带来了巨大的经济负担、治疗选择有限、RD 对患者生活规划的影响以及 RD 给患者社会生活带来的困难。此外，受访者将 RD（56.0%）排在政府研发资金的首位，而常见疾病（44.0%）排在第二位。支持政府为 RD 提供研发资金的原因包括许多 RD 缺乏治疗选择（34.9%）和由于研究人员数量少而难以研究 RD（25.9%）。支持政府为常见疾病提供研发资金的主要原因是受影响患者人数众多（59.7%）以及通过促进研发可能获得更多的治疗选择（22.1%）。
在做出资金决策时，公众更关注与日常生活或财务相关的负担，而不是 RD 的流行病学特征，这表明稀有性的优先级较低。公众和 RD 专家在对 RD 的流行病学特征及其阈值的理解上似乎存在差距。应该弥合这一差距，以确保社会接受为 RD 提供财务支持的优先级。
