Social Cooperation Program of IT Healthcare, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo, Japan.
National Institute of Public Health, Saitama, Japan.
Orphanet J Rare Dis. 2022 Mar 28;17(1):140. doi: 10.1186/s13023-022-02290-0.
There are more than 7000 rare diseases, most of which have no specific treatment. Disease profiles, such as prevalence and natural history, among the population of a specific country are essential in determining for which disease to research and develop drugs. In Japan, disease profiles of fewer than 2000 rare diseases, called Nanbyo, have been investigated. However, non-Nanbyo rare diseases remain largely uninvestigated. Accordingly, we revealed the prevalence and natural history of rare diseases among the Japanese population. This cross-disease study is the first to analyze rare-disease epidemiology in Japan with high accuracy, disease coverage, and granularity.
We applied for permission to use the National Database of Health Insurance Claims and Specific Health Checkups of Japan (NDB), which covered 99.9% of public health insurance claims from hospitals and 97.9% from clinics as of May 2015. Then, we obtained 10 years of data on the number of patients of approx. 4500 rare diseases, by sex and age. We translated disease names and established correspondences between rare diseases in NDB and those in Orphanet. Accordingly, we compared the prevalence and natural history between them.
About 3000 diseases in NDB are included in Orphanet and other medical databases. The data indicates that even if the Nanbyo systems do not cover a rare disease, its patients survive in many cases. Regarding natural history, genetic diseases tend to be diagnosed later in Japan than in the West. The data shown in this research are available in the Additional file 1 and the website of NanbyoData.
Our research revealed the basic epidemiology and natural history of Japanese patients with some rare diseases using a health insurance claims database. The results imply that the coverage of the present Nanbyo systems is inadequate for rare diseases. Therefore, fundamental reform might be needed to reduce unfairness between rare diseases. Most diseases in Japan follow a tendency of natural history similar to those reported in Orphanet. However, some are detected later, partly because fewer clinical genetic tests are available in Japan than in the West. Finally, we hope that our data and analysis accelerate drug discovery for rare diseases in Japan.
全球有超过 7000 种罕见病，其中大多数都没有特定的治疗方法。了解特定国家特定人群的疾病特征，如发病率和自然病史，对于确定要研究和开发哪种药物至关重要。在日本，已经调查了不到 2000 种罕见疾病（称为 Nanbyo）的疾病特征。然而，大部分非 Nanbyo 罕见病仍然未被调查。因此，我们揭示了日本人群中罕见病的发病率和自然病史。这项跨疾病研究首次以高精度、全面性和细粒度分析了日本罕见病的流行病学。
我们申请使用日本国民健康保险索赔和特定健康检查数据库（NDB），该数据库涵盖了截至 2015 年 5 月来自医院的 99.9%的公共健康保险索赔和来自诊所的 97.9%的索赔。然后，我们根据性别和年龄获得了近 4500 种罕见疾病患者 10 年的数据。我们翻译了疾病名称，并在 NDB 中的罕见病与 Orphanet 中的罕见病之间建立了对应关系。据此，我们比较了它们之间的发病率和自然病史。
NDB 中的约 3000 种疾病包含在 Orphanet 和其他医学数据库中。数据表明，即使 Nanbyo 系统不涵盖某种罕见病，其患者在许多情况下仍能存活。在自然病史方面，日本的遗传性疾病比西方更晚得到诊断。本研究中显示的数据可在附加文件 1 和 NanbyoData 网站上获得。
我们使用健康保险索赔数据库研究揭示了日本部分罕见病患者的基本流行病学和自然病史。研究结果表明，目前的 Nanbyo 系统对罕见病的覆盖范围不足。因此，需要进行根本性改革，以减少罕见病之间的不公平。日本的大多数疾病遵循与 Orphanet 报告相似的自然病史趋势。然而，一些疾病的诊断时间较晚，部分原因是日本的临床遗传检测比西方少。最后，我们希望我们的数据和分析能够加速日本罕见病的药物发现。
