The Taiwan Precision Medicine Initiative: A Cohort for Large-Scale Studies
Authors: Yang Hsin-Chou , Kwok Pui-Yan , Li Ling-Hui , Liu Yi-Min , Jong Yuh-Jyh , Lee Kang-Yun , Wang Da-Wei , Tsai Ming-Fang , Yang Jenn-Hwai , Chen Chien-Hsiun , Yeh Erh-Chan , Wei Chun-yu , Fann Cathy S.-J. , Huang Yen-Tsung , Chen Chia-Wei , Lee Yi-Ju , Chu Shih-Kai , Ho Chih-hsing , Yang Cheng-Shin , Lee Yungling Leo , Chen Hung-Hsin , Hou Ming-Chih , Chiou Jeng-Fong , Yang Shun-Fa , Wang Chih-Hung , Huang Chih-Yang , Chiu Kuan-Ming , Chen Ming , Chiang Fu-Tien , Lee Sing-Lian , Chen Shiou-Sheng , Yao Wei-Jen , Chien Chih-Cheng , Lin Shih-Yao , Chang Fu-Pang , Ho Hsiang-Ling , Yeh Yi-Chen , Tseng Wei-Cheng , Lin Ming-Hwai , Chang Hsiao-Ting , Tseng Ling-Ming , Liang Wen-Yih , Chen Paul Chih-Hsueh , Hang Jen-Fan , Lin Shih-Chieh , Chan Yu-Jiun , Kuo Ying-Ju , Wang Lei-Chi , Pan Chin-Chen , Hsieh Yu-Cheng , Chen Yi-Ming , Hsiao Tzu-Hung , Lin Ching-Heng , Chen Yen-Ju , Chen I-Chieh , Mao Chien-Lin , Chang Shu-Jung , Chang Yen-Lin , Liao Yi-Ju , Lai Chih-Hung , Lee Wei-Ju , Tung Hsin , Yen Ting-Ting , Yen Hsin-Chien , Shih Chun-Ming , Chou Teh-Ying , Liou Tsan-Hon , Chiang Chen-Yuan , Cherng Yih-Giun , Chen Chih-Hwa , Chiu Chao-Hua , Tseng Sung-Hui , Lin Emily Pei-Ying , Chen Ying-Ju , Chuang Hui-Ping , Chen Tsai-Chuan , Huang Wei-Ting , Sin Joey , Liu I-Ling , Chen Yi-Chen , Chao Kuo-Kuang , Wu Yu-Min , Yu Pin-Pin , Chang Lung-Pao , Yen Kuei-Yao , Chang Li-Ching , Sheen Yi-Jing , Chen Yuan-Tsong , Kan Kamhon , Tsai Hsiang-Lin , Wang Yao-Kuang , Hou Ming-Feng , Yang Yuan-Han , Kuo Chao-Hung , Wu Wen-Jeng , Huang Jee-Fu , Chong Inn-Wen , Tsai Jong-Rung , Lin Cheng-Yu , Yu Ming-Chin , Lee Tsong-Hai , Tsai Meng-Han , Ou Yu-Che , Chen Pin-Yuan , Hu Tsung-Hui , Shyu Yu-Chiau , Cheng Chih-Kuang , Fang Yu-Jen , Hsieh Song-Chou , Chen Chien-Hung , Chen Chieh-Chang , Li Ko-Jen , Lin Chin-Hsien , Chiu Hsien-Yi , Wu Chen-Chi , Chen Chun-Yen , Chu Shi-Jye , Liu Feng-Cheng , Yang Fu-Ch , Chang Hsin-An , Chen Wei-liang , Yang Sung-Sen , Sung Yueh-feng , Wang Tso-Fu , Lin Shinn-Zong , Wu Yen-Wen , Wu Chien-Sheng , Jiang Ju-Ying , Ma Gwo-Chin , Chang Ting-Yu , Hwang Juey-Jen , Kao Kuo-Jang , Hung Chen-Fang , Chiu Ting-Fang , Chen Po-Yueh , Tsui Kochung , Wu Ming-Shiang , Pang See-Tong , Chen Shih-Ann , Chen Wei-Ming , Chen Chun-houh , Sheu Wayne Huey-Herng , Wu Jer-Yuarn 
Published: October 2024

The Taiwan Precision Medicine Initiative (TPMI), a project initiated by the Academia Sinica in collaboration with 16 major medical centers around Taiwan, has recruited 565,390 participants who consented to provide DNA samples for genetic profiling and grant access to their electronic medical records (EMR) for studies to develop precision medicine. Access to the EMR is both retrospective and prospective, allowing researchers to conduct prospective studies over time. Genetic profiling is done with population-optimized SNP arrays for the Han Chinese populations that enable genetic analyses such as genome-wide association, phenome-wide association, and polygenic risk score studies to evaluate common disease risk and pharmacogenetic response. Furthermore, the TPMI participants agree to be contacted for future research opportunities related to their genetic risks and receive personalized genetic risk profiles with health management recommendations. TPMI has established the TPMI Data Access Platform (TDAP), a central database and analysis platform that both safeguards the security of the data and facilitates academic research. The TPMI is the largest non-European cohort that merges genetic profiles with EMR in the world. With a cohort that can be followed over time, it can be utilized to validate genetic risk prediction models, conduct clinical trials to show the efficacy of risk-based health management, and optimize health policies based on genetic risks. In this report, we describe the TPMI study design, the population and genetic characteristics of the TPMI cohort, and the power it provides to conduct crucial studies in developing precision medicine on a population and personal level. As Han Chinese represent almost 20% of the world’s population, the results of TPMI studies will benefit >1.4 billion people around the world and serve as a model for developing population-based precision medicine.