The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies

Han Chinese people comprise nearly 20% of the global population but remain under-represented in genetic studies<sup>1,2</sup>, so there is an urgent need for large-scale cohorts to advance precision medicine. Here we present the Taiwan Precision Medicine Initiative (TPMI), established by Academia Sinica in collaboration with 16 major medical centres around Taiwan, which has recruited 565,390 participants who consent to provide DNA samples for genetic profiling and grant access to their electronic medical records (EMRs) for research. EMR access is both retrospective and prospective, allowing longitudinal studies. Genetic profiling is done with population-optimized arrays of single-nucleotide polymorphisms for people of Han Chinese ancestry, which enable genome-wide association<sup>3,4</sup>, phenome-wide association<sup>5,6</sup> and polygenic risk score<sup>7,8</sup> studies to be performed to evaluate common disease risk and pharmacogenetic response. Participants also agreed to be re-contacted for future research and receive personalized genetic risk profiles with health management recommendations. The TPMI has established the TPMI Data Access Platform, a central database and analysis platform that both safeguards the security of the data and facilitates academic research. As a large cohort of individuals with non-European ancestry that merges genetic profiles with EMR data and enables longitudinal follow-up, TPMI provides a unique resource that could be used to validate genetic risk prediction models, perform clinical trials of risk-based health management and inform health policies. Ultimately, the TPMI cohort will contribute to global genetic research and serve as a model for population-based precision medicine.

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Journal
Nature
Published
2025-10-15
DOI
https://doi.org/10.1038/s41586-025-09680-x
Citations
10
Primary Topic
Cardiovascular Health and Risk Factors
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article
Field-Weighted Citation Impact
13.88
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article

The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies

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10 citations
Nature
Cardiovascular Health and Risk Factors
13.88
article

The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies

Ting‐Ting Yen, Shu-Jung Chang, Hsin-An Chang, Shih-Yao Lin, Jong‐Rung Tsai, Chun-Yu Wei, Paul Chih-Hsueh Chen, Ko‐Jen Li, Juey‐Jen Hwang, Shun‐Fa Yang, Yu‐Che Ou, Chun‐Houh Chen, Chen‐Chi Wu, Chao‐Hung Kuo, Ying-Ju Chen, Teh‐Ying Chou, Pui–Yan Kwok, See‐Tong Pang, Yungling Leo Lee, Hsien‐Yi Chiu, Ying‐Ju Kuo, Chih‐Yang Huang, Lo‐Yu Chang, Inn‐Wen Chong, Cathy S.J. Fann, Yao‐Kuang Wang, Yi‐Jing Sheen, Yen‐Ju Chen, Chien-Lin Mao, Yuh‐Jyh Jong, Wayne Huey‐Herng Sheu, Kuo-Jang Kao, Hsin-Chien Yen, Chin‐Hsien Lin, Ting-Fang Chiu, Erh‐Chan Yeh, Wen‐Jeng Wu, Chen‐Yuan Chiang, Jen‐Fan Hang, Chien-Hsiun Chen, Tsai‐Chuan Chen, Ming‐Shiang Wu, Po‐Yueh Chen, Cheng-Yu Lin, Gwo‐Chin Ma, I‐Chieh Chen, Jee‐Fu Huang, Chih‐Hwa Chen, Ming Chen, Kochung Tsui, Fu‐Tien Chiang, Wei‐Ju Lee, Kamhon Kan, Yu‐Chiau Shyu, Weiting Huang, Pin‐Yuan Chen, Meng‐Han Tsai, Jeng‐Fong Chiou, Chieh‐Chang Chen, Shih‐Chieh Lin, D. Wang, Kai-Yuan Chao, Lei‐Chi Wang, Yu-Jiun Chan, Shih-Kai Chu, Joey Sin, Chih‐Hung Lai, Ming-Hwai Lin, Hsiao‐Ting Chang, Yu‐Cheng Hsieh, Kuan‐Ming Chiu, Yen-Lin Chang, Chih‐Cheng Chien, Chih‐hsing Ho, Kang‐Yun Lee, Wei-Cheng Tseng, Ling-Hui Li, Hsin Tung, Yen‐Tsung Huang, Yueh‐Feng Sung, Chen‐Fang Hung, Chien‐Sheng Wu, Sung‐Hui Tseng, Yih‐Giun Cherng, Yen‐Wen Wu, Hung‐Hsin Chen, Hsin‐Chou Yang, Chih-Kuang Cheng, Ming‐Chin Yu, Shiou-Sheng Chen, Wei-Ming Chen, Tsan‐Hon Liou, Emily Lin, Yi‐Ju Liao, Ting‐Yu Chang, Yi‐Ming Chen, Yichen Chen, Wei-Liang Chen, Chien‐Hung Chen, Yimin Liu, Ming-Fang Tsai, Chih‐Hung Wang, Chun‐Yen Chen, Pengcheng Yu, Shi-Jye Chu, Yuan‐Han Yang, Yumin Wu, Hsiang‐Ling Ho, Fu-Chi Yang, Song-Chou Hsieh, Chao-Hua Chiu, Chengxiang Yang, Hsiang‐Lin Tsai, Ju‐Ying Jiang, Tzu-Hung Hsiao, Shinn Zong Lin, Jenn-Hwai Yang, Li-Ching Chang, Yi-Chen Yeh, Kang K. Yen, Wei‐Jen Yao, Ming-Feng Hou, Tso-Fu Wang, Ching‐Heng Lin, Fu-Pang Chang, Yu‐Jen Fang, Isabelle Liu, Sung-Sen Yang, Chin-Chen Pan, Jer-Yuarn Wu, Tsung‐Hui Hu, Chun‐Ming Shih, Ling-Ming Tseng, Hui-Ping Chuang, Feng-Cheng Liu, Chia-Wei Chen, Yi-Ju Lee, Wen-Yih Liang, S. Lee, Tsong-Hai Lee, Shih‐Ann Chen, Yuan-Tsong Chen, Ming-Chih Hou
article en
10 citations

Abstract

Han Chinese people comprise nearly 20% of the global population but remain under-represented in genetic studies<sup>1,2</sup>, so there is an urgent need for large-scale cohorts to advance precision medicine. Here we present the Taiwan Precision Medicine Initiative (TPMI), established by Academia Sinica in collaboration with 16 major medical centres around Taiwan, which has recruited 565,390 participants who consent to provide DNA samples for genetic profiling and grant access to their electronic medical records (EMRs) for research. EMR access is both retrospective and prospective, allowing longitudinal studies. Genetic profiling is done with population-optimized arrays of single-nucleotide polymorphisms for people of Han Chinese ancestry, which enable genome-wide association<sup>3,4</sup>, phenome-wide association<sup>5,6</sup> and polygenic risk score<sup>7,8</sup> studies to be performed to evaluate common disease risk and pharmacogenetic response. Participants also agreed to be re-contacted for future research and receive personalized genetic risk profiles with health management recommendations. The TPMI has established the TPMI Data Access Platform, a central database and analysis platform that both safeguards the security of the data and facilitates academic research. As a large cohort of individuals with non-European ancestry that merges genetic profiles with EMR data and enables longitudinal follow-up, TPMI provides a unique resource that could be used to validate genetic risk prediction models, perform clinical trials of risk-based health management and inform health policies. Ultimately, the TPMI cohort will contribute to global genetic research and serve as a model for population-based precision medicine.

NatureVol. 648(8092)
Fu Jen Catholic University (TW), Tri-Service General Hospital (TW), National Yang Ming Chiao Tung University (TW), Kaohsiung Medical University (TW), National Taiwan Ocean University (TW), National Chung Hsing University (TW), National Health Research Institutes (TW), National Taiwan University (TW), Chang Gung University (TW), Tzu Chi University (TW), University of Taipei (TW), Tzu Chi Foundation (TW), Taipei Medical University Hospital (TW), Kaohsiung Medical University Chung-Ho Memorial Hospital (TW), Taipei Veterans General Hospital (TW), Chang Gung Memorial Hospital (TW), Taipei Municipal YangMing Hospital (TW), Taichung Veterans General Hospital (TW), Kaohsiung Chang Gung Memorial Hospital (TW), Institute of Biomedical Sciences, Academia Sinica (TW), Institute of Information Science, Academia Sinica (TW), Far Eastern Memorial Hospital (TW), Institute of European and American Studies, Academia Sinica (TW), Chung Shan Medical University Hospital (TW), Keelung Chang Gung Memorial Hospital (TW), Chia-Yi Christian Hospital (TW), Linkou Chang Gung Memorial Hospital (TW), Institute of Human Genetics (PL), Taipei City Hospital (TW), Ministry of Health and Welfare (TW), Hualien Tzu Chi Medical Center (TW), Cathay General Hospital (TW), National Taiwan University Hospital (TW), Koo Foundation Sun Yat-Sen Cancer Center (TW), Institute of Statistical Science, Academia Sinica (TW), Wan Fang Hospital (TW), Kaohsiung Municipal Ta-Tung Hospital (TW), Kaohsiung Municipal Hsiao-Kang Hospital (TW), Chiayi Chang Gung Memorial Hospital (TW), Taipei Medical University-Shuang Ho Hospital (TW), Changhua Christian Hospital (TW), Taipei Medical University (TW), Institute of Economics, Academia Sinica (TW), National Defense Medical Center (TW), Academia Sinica (TW), Chung Shan Medical University (TW), National Yang Ming Chiao Tung University (TW), National Taipei University (TW), Yuan Ze University (TW)
Openalex Percentile: Top 1%
Cardiovascular Health and Risk Factors
13.88
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