Japan has quietly built one of the world's most comprehensive disease-oriented biobanks, now holding more than 250,000 registered participants and over 800,000 human biospecimens spanning more than 200 disease types, according to a new review published in Frontiers in Genetics by Yosuke Omae and Katsushi Tokunaga of the National Center Biobank Network (NCBN). The figures, current through the end of March 2026, represent more than a decade of systematic collection, freezing, cataloguing, and distribution of blood, DNA, tissue, and other biological materials from patients at Japan's most advanced specialized hospitals. The infrastructure now positions Japan as a global leader in translational research and genomic medicine.
The NCBN operates as a federated network of six biobanks run by Japan's National Centers for advanced and specialized medicine, supported by the Ministry of Health, Labour and Welfare. Four centers are located in the Tokyo metropolitan area, with two more in Osaka and Aichi. Each center pairs a specialized hospital with a research institute and a disease-based biobank focused on conditions with major national health impact: cancer at the National Cancer Center, cardiovascular and cerebrovascular disease at the National Cerebral and Cardiovascular Center, psychiatric and neurological disorders at the National Center of Neurology and Psychiatry, pediatric and obstetric conditions at the National Center for Child Health and Development, and age-related diseases at the National Center for Geriatrics and Gerontology. In April 2025, the network underwent structural transformation when the National Center for Global Health and Medicine merged with the National Institute of Infectious Diseases to form the Japan Institute for Health Security, bringing the Central Biobank Secretariat and infectious disease biobank under this new umbrella. Cumulatively, more than 200,000 human biospecimens accompanied by clinical information have been distributed to companies and academic institutions. The National Center for Geriatrics and Gerontology biobank alone has distributed over 81,000 biospecimens through collaborative research and more than 31,000 through fee-based provision.
What sets these collections apart from ordinary sample repositories is the depth and traceability of the clinical information attached to them, the report notes. Every sample is accompanied by clinical records curated by physicians at each center, and quality-related preanalytical information—including collection, processing, aliquoting, and storage times as well as nucleic acid quality indicators—can be provided to users on request. The network has completed whole-genome sequencing of 9,850 control samples, creating a dataset called NCBN Control that captured notable genetic diversity, including the Ryukyuan population, whose genetic background differs from that of mainland Japanese. Statistical polymorphism information is publicly available, and individual genome data have been shared under 28 collaborative studies, with nine published papers already using the data as non-cancer controls, for variant filtering, and as imputation reference panels.
The report highlights discoveries that illustrate the distinctive strengths of each biobank. At the National Cancer Center, whole-genome sequencing of clear cell renal cell carcinoma samples revealed a mutational signature of unknown cause that appears in more than 70 percent of cases in Japan but in less than 2 percent elsewhere, indicating the existence of multiple, geographically variable mutagenic exposures that shaped cancer genomes differently across populations. At the National Cerebral and Cardiovascular Center, analysis of time-series samples collected from the same subjects at multiple time points revealed that a specific mutation in the RNF213 gene, already associated with moyamoya disease among Asians, may also be linked to changes in cardiac-to-pulmonary blood flow and an increased risk of refractory pulmonary hypertension—a finding that has contributed to the development of genetic testing that may improve disease prevention and treatment. At the Japan Institute for Health Security, an exome-wide association study drawing on 21 cohorts across 12 countries identified a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 that increases the risk of severe COVID-19 by 5.3-fold. Quality assurance has become a global benchmark: in March 2024, four Japanese biobanks, including two within the NCBN, received accreditation based on the international ISO 20387 standard, with expansion to the remaining NCBN biobanks under consideration.
The network offers two usage models: collaborative research with NCBN institutions, and provision, which requires a fee covering actual costs but grants the user ownership of resulting intellectual property. Samples are currently available to overseas users through joint research with any NCBN biobank, and efforts are underway, in consultation with other Japanese biobanks, to establish direct provision systems for foreign institutions. Together with Biobank Japan and the Tohoku Medical Megabank, the NCBN contributes to a comprehensive national research infrastructure through the All-Japan framework called Biobank Network Japan. While those other initiatives provide large-scale population and genomic resources, the NCBN offers unique access to deeply phenotyped patients, rare diseases, specialized bioresources, and longitudinal clinical information—positioning it as a vital platform for advancing precision medicine in Japan.