315

Social Cooperation Research Program

Project Division of Genomic Medicine andDisease Prevention
ゲノム予防医学社会連携研究部門
Project Professor
Toru Suzuki, M.D., Ph.D.
Professor
Yoshinori Murakami, M.D., Ph.D.
Project Assistant Professor Tomoko Takahashi, Ph.D.

特任教授
教 授
特任助教

博士（医学）
博士（医学）
博士（理学）

鈴村高

木上橋

善朋

亨
則子

Diseases, including cancer and common/chronic conditions, develop/progress by
the combination/interaction of genetic background, acquired environmental
exposures, life-style factors and aging. Identification of risk factors at time of birthand later in life provides information on which approaches to disease prevention
can be tailored. The Project Division of Genomic Medicine and Disease Prevention
was started on July 1, 2019 (extended until March 2024) in cooperation with Nippon
Telegram and Telephone Cooperation (NTT), with a goal to develop personalized/precision-based prevention of diseases by integrating genomic information, healthrecords and life-style data.

1.  Towards the development of personalized andprecision-based prevention of diseases
Toru Suzuki1, Tomoko Takahashi1, Masaru Koido2,
Yoichiro Kamatani2, Takayuki Morisaki1,Yoshinori
Murakami1; 1Project Division of Genomic Medicineand Disease Prevention, The Institute of MedicalScience, the University of Tokyo, 2Laboratory ofComplex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate
School of Frontier Sciences, the University of Tokyo,Tokyo.
The Project Division of Genetic Medicine and Disease Prevention was established in 2019 to obtain scientific evidence to enable disease prevention by integrating genetic information into healthcare-based
information (eg health records), life-style data andage.
For this purpose, a collaborative project with NTT
Life Science, Corp. was initiated in 2020 to undertakeresearch to integrate genetic testing with healthcaredata to identify disease risk. Consenting employees ofNTT group companies who undertake regular/annual physical examinations were recruited to a comprehensive survey program of genetic testing using microarray analysis and healthcare data collection. The
program aims to investigate use of polygenic risk
scores to identify genetic risk of conditions, and toshare information with participants to potentially improve/intervene through lifestyle modifications improvement in a manner that is compliant in terms ofethical, legal and social issues (ELSI). This project isbeing undertaken in collaboration with several hospitals, including the Center for Disease Prevention at
the NTT Medical Center, Tokyo. Integration of genetic information into health records and re-evaluationof disease risks of individuals are also being examined.
In 2021, a grant from the Japanese Science andTechnology Agency’s JST-Mirai Program on Advanced Intelligent Information Society mission area
(Human centric digital twins services) was awarded

316
to investigate “Development of disease prevention
systems by integrating multi-layered biomedical information”. The prioritized theme targets individuals
and organizations as components of society, using thepremise of AI digital twin as its core, and aims to: (1)create new value for emerging needs and issues, and(2) propose and realize new concepts and services related to AI digital twin. Specifically, it aims at an optimal combination of technologies related to data collection, processing, conversion, and integration,
which are the prerequisites for digital twinning, as
well as data conversion technologies suitable formodern AI technology, intelligent integration of output results, etc., with an eye toward the future of services, in addition to the advancement of individual
core technologies.
The study aims to enable inclusion of multi-layered biomedical information into current compa-ny-based health care systems.
Workstreams include 1. Longitudinal health care information of employees
in a company-based cohort in Japan;
2. SNP typing information of individuals (with informed consent) to generate polygenic risk scoresof various diseases; and3. Multiomics information, such as information on themetabolome.
In 2023, a grant from the Japanese Cabinet Office’s
Cross-ministerial Strategic Innovation Promotion(SIP) Program on Development of an IntegratedHealthcare System was awarded to develop and implement a life-record-type digital twin. This projectutilizes the serial healthcare/clinical data including
biomedical information of the NTT working generation cohort to analyse and visualize disease onest andprogression including risks.

Representative publications ・He, Y., Koido, M., Sutoh, Y., Shi, M., Otsuka-Yamasaki, Y., Munter, H.M.; BioBank Japan; Morisaki, T.,Nagai, A., Murakami, Y., Tanikawa, C., Hachiya, T.,
Matsuda, K., Shimizu, A., and Kamatani, Y. East
Asian-specific and cross-ancestry genome-wide
meta-analyses provide mechanistic insights intopeptic ulcer disease. Nat Genet. 55:2129-2138, 2023.
・Usui, Y., Taniyama, Y., Endo, M., Koyanagi, Y.N.,
Kasugai, Y., Oze, I., Ito, H., Imoto, I., Tanaka, T., Tajika, M., Niwa, Y., Iwasaki, Y., Aoi, T., Hakozaki, N.,
Takata, S., Suzuki, K., Terao, C., Hatakeyama, M.,
Hirata, M., Sugano, K., Yoshida, T., Kamatani, Y.,
Nakagawa, H., Matsuda, K., Murakami, Y., Spurdle, A.B., Matsuo, K., and Momozawa, Y. Helicobacter pylori, Homologous-Recombination Genes,and Gastric Cancer. N Engl J Med. 388:1181-1190,2023.
・Miyazawa, K., Ito, K., Ito, M., Zou, Z., Kubota, M.
Nomura, S., Matsunaga, H., Koyama, S., Ieki, H.,Akiyama, M., Koike, Y., Kurosawa, R., Yoshida, H.,
Ozaki, K., Onouchi, Y.; BioBank Japan Project;
Takahashi, A., Matsuda, K., Murakami, Y., Abu-ratani, H., Kubo, M., Momozawa, Y., Terao, C., Oki,S., Akazawa, H., Kamatani, Y., and Komuro, I.
Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction. Nat Genet. 55:187-197,2023.
・Akiyama, M., Sakaue, S., Takahashi, A., Ishigaki,K., Hirata, M., Matsuda, K., Momozawa, Y., Okada,Y., Ninomiya, T.; Biobank Japan project; Terao, C.,
Murakami, Y., Kubo, M., and Kamatani, Y. Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals. Commun Biol. 6:143, 2023.
・Sarmad, S., Viant, M.R., Dunn, W.B., Goodacre, R.,
Wilson, I.D., Chappell, K.E., Griffin, J.L., O’Donnell,V.B., Naicker, B., Lewis, M.R., and Suzuki, T.; UK
Consortium on Metabolic Phenotyping (MAP/UK).
A proposed framework to evaluate the quality andreliability of targeted metabolomics assays fromthe UK Consortium on Metabolic Phenotyping(MAP/UK). Nat Protoc. 18:1017-1027, 2023.