Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database
Abstract Background 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 p...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-03-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02290-0 |
| _version_ | 1811272386603909120 |
|---|---|
| author | Kota Ninomiya Masahiro Okura |
| author_facet | Kota Ninomiya Masahiro Okura |
| author_sort | Kota Ninomiya |
| collection | DOAJ |
| description | Abstract Background 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. Method 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. Results 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. Conclusions 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. |
| first_indexed | 2024-04-12T22:39:24Z |
| format | Article |
| id | doaj.art-78a20211f7fc4597b7415588f0f33eba |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-12T22:39:24Z |
| publishDate | 2022-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-78a20211f7fc4597b7415588f0f33eba2022-12-22T03:13:46ZengBMCOrphanet Journal of Rare Diseases1750-11722022-03-0117111310.1186/s13023-022-02290-0Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims databaseKota Ninomiya0Masahiro Okura1Social Cooperation Program of IT Healthcare, Graduate School of Pharmaceutical Sciences, The University of TokyoSocial Cooperation Program of IT Healthcare, Graduate School of Pharmaceutical Sciences, The University of TokyoAbstract Background 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. Method 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. Results 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. Conclusions 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.https://doi.org/10.1186/s13023-022-02290-0Rare diseasesClaim dataCross-disease analysisNational rare disease planPrevalenceEpidemiology |
| spellingShingle | Kota Ninomiya Masahiro Okura Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database Orphanet Journal of Rare Diseases Rare diseases Claim data Cross-disease analysis National rare disease plan Prevalence Epidemiology |
| title | Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database |
| title_full | Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database |
| title_fullStr | Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database |
| title_full_unstemmed | Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database |
| title_short | Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database |
| title_sort | nationwide comprehensive epidemiological study of rare diseases in japan using a health insurance claims database |
| topic | Rare diseases Claim data Cross-disease analysis National rare disease plan Prevalence Epidemiology |
| url | https://doi.org/10.1186/s13023-022-02290-0 |
| work_keys_str_mv | AT kotaninomiya nationwidecomprehensiveepidemiologicalstudyofrarediseasesinjapanusingahealthinsuranceclaimsdatabase AT masahirookura nationwidecomprehensiveepidemiologicalstudyofrarediseasesinjapanusingahealthinsuranceclaimsdatabase |