The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies
Hsin‐Chou Yang, Pui–Yan Kwok, Ling-Hui Li, Yimin Liu, Yuh‐Jyh Jong, Kang‐Yun Lee, Da-Wei Wang, Ming-Fang Tsai, Jenn-Hwai Yang, Chien-Hsiun Chen, Erh‐Chan Yeh, Chun-Yu Wei, Cathy S.J. Fann, Yen‐Tsung Huang, Chia-Wei Chen, Yi-Ju Lee, Shih‐Kai Chu, Chih‐hsing Ho, Cheng-Shin Yang, Yungling Leo Lee, Hung‐Hsin Chen, Ming-Chih Hou, Jeng‐Fong Chiou, Shun‐Fa Yang, Chih‐Hung Wang, Chih‐Yang Huang, Kuan‐Ming Chiu, Ming Chen, Fu‐Tien Chiang, S. Lee, Shiou-Sheng Chen, Wei‐Jen Yao, Chih‐Cheng Chien, Shih-Yao Lin, Fu-Pang Chang, Hsiang‐Ling Ho, Yi-Chen Yeh, Wei-Cheng Tseng, Ming-Hwai Lin, Hsiao‐Ting Chang, Ling-Ming Tseng, Wen-Yih Liang, Paul Chih-Hsueh Chen, Jen‐Fan Hang, Shih‐Chieh Lin, Yu‐Jiun Chan, Ying‐Ju Kuo, Lei‐Chi Wang, Chin-Chen Pan, Yu‐Cheng Hsieh, Yi‐Ming Chen, Tzu-Hung Hsiao, Ching‐Heng Lin, Yen‐Ju Chen, I‐Chieh Chen, Chien-Lin Mao, Shu-Jung Chang, Yen-Lin Chang, Yi‐Ju Liao, Chih‐Hung Lai, Wei‐Ju Lee, Hsin Tung, Ting‐Ting Yen, Hsin-Chien Yen, Chun‐Ming Shih, Teh‐Ying Chou, Tsan‐Hon Liou, Chen‐Yuan Chiang, Yih‐Giun Cherng, Chih‐Hwa Chen, Chao‐Hua Chiu, Sung‐Hui Tseng, Emily Lin, Ying-Ju Chen, Hui-Ping Chuang, Tsai‐Chuan Chen, Weiting Huang, Joey Sin, I-Ling Liu, Yichen Chen, Kuo-Kuang Chao, Yumin Wu, Pengcheng Yu, Lung-Pao Chang, Kuei-Yao Yen, Li-Ching Chang, Yi‐Jing Sheen, Yuan-Tsong Chen, Kamhon Kan, Hsiang‐Lin Tsai, Yao‐Kuang Wang, Ming-Feng Hou, Yuan‐Han Yang, Chao‐Hung Kuo, Wen‐Jeng Wu, Jee‐Fu Huang, Inn‐Wen Chong, Jong‐Rung Tsai, Cheng-Yu Lin, Ming‐Chin Yu
Abstract
Abstract Han Chinese people comprise nearly 20% of the global population but remain under-represented in genetic studies 1,2 , 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 3,4 , phenome-wide association 5,6 and polygenic risk score 7,8 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.