Pui-Yan Kwok

Distinguished Research Fellow and Director (Academician)
Institute of Biomedical Sciences, Academia Sinica

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Pui-Yan Kwok, MD, PhD, is Distinguished Research Fellow and Director of the Institute of Biomedical Sciences at the Academia Sinica, Taiwan. He is concurrently the Henry Bachrach Distinguished Professor at the University of California, San Francisco. Dr. Kwok received his MD and PhD degrees from the University of Chicago and completed his residency in dermatology and postdoctoral training at the Washington University School of Medicine in St. Louis, Missouri. He became an assistant professor of dermatology and genetics at the Washington University School of Medicine in 1993 and was promoted to associate professor with tenure in 1999. Dr. Kwok joined the UCSF School of Medicine in 2002 and the Academia Sinica in 2017. Dr. Kwok’s research focuses on developing tools and strategies to study the human genome and the role of human variation in common diseases. He played key roles in many large international consortia, including the SNP Consortium, the International HapMap Project, the ENSIGHT Consortium, and the CSER Consortium. He currently leads the Taiwan Precision Medicine Initiative, where a reference database with genetic profiles and clinical data of 1 million people is being built to improve health through disease risk prediction and tailored heath management guidelines.

Dr. Kwok is an Academician of the Academia Sinica, a Fellow of the American Association for the Advancement of Science (AAAS), and a Fellow of the World Academy of Sciences (TWAS). He is the recipient of the 2017 University of Chicago Pritzker School of Medicine Distinguished Service Award and the 2022 Human Genome Organization (HUGO) Chen Award for Distinguished Academic Achievement in Human Genetic and Genomic Research.
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Speech title & Synopsis

Preemptive Genetic Profiling for Drug Development and Health Management

Genetic variation leads to differences in drug response and is the major reason why many medications developed in the West are less effective or cause adverse drug reactions in Asians. Genetic factors also affect one’s health and are highly correlated with longevity. Comprehensive genetic testing and genetic profiling can now be done efficiently and inexpensively, making it possible to explore the utility of genetic profiling large populations for optimal drug development and health management. National projects are underway in the UK and Finland with these goals in mind. The Taiwan Precision Medicine Initiative is the largest such project outside of Europe with the goal of enrolling 1 million Han Chinese participants. The participants provide their DNA samples and clinical data for disease risk and drug response model development. In return, the participants receive their disease risk and drug response profiles, with guidelines for risk mitigation and healthy living. To-date, over 500,000 participants have been enrolled, with genetic/clinical data obtained from over 335,000 participants. Preliminary studies show that preemptive genetic profiling is useful in drug development and health promotion. When genetic profiles of the entire population are incorporated into clinical practice, there will be major savings in healthcare cost and substantial improvement in population health.
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