Genome-driven Chinese precision medicine: Biobank-scale genomic research as a new paradigm
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GRAPHICAL ABSTRACT
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PUBLIC SUMMARY
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Integrating population and medical genomics has advanced genome-driven precision medicine.
Large-scale genomic datasets enhance disease prediction, treatment, and human diversity insights.
Chinese genomic studies boost PRS accuracy, pharmacogenomics, and precise disease subtyping.
This study emphasizes extensive sampling, high-throughput sequencing, and representative genomic databases.
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ABSTRACT
Large-scale genomic resources from biobank sequencing projects are crucial for understanding the interplay between environmental and genetic factors in human disease and health traits, as well as for reconstructing human evolutionary history. We summarize recent advances in genomic cohorts and highlight opportunities for non-Eurocentric populations from a multidisciplinary perspective. Initiatives like the UK100K, All of Us, and TOPMed precision medicine programs have shifted research paradigms from problem-derived to data-driven approaches, enhancing our understanding of the genetic architecture of diseases in Europeans and their descendants. However, biases persist, such as the Han bias in Chinese genomic projects focused on medical and anthropological purposes. These biases contribute to global genomic inequalities and disparities in Chinese precision medicine. Evolutionary genomic studies of modern and ancient genomes provide new insights into the history and adaptive trajectories of critical human genetic mutations. These findings underscore the importance of personal genome medicine tailored to ethnolinguistically and genetically diverse populations. This strategy is vital for assessing disease burden and understanding the etiology of human disease. Our work emphasizes the need to include underrepresented genomic diversity to create a comprehensive catalog of human genetic variations and understand their biological implications. -
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Wang M., Duan S., Li X., et al. (2025). Genome-driven Chinese precision medicine: Biobank-scale genomic research as a new paradigm. The Innovation Life 3:100131. https://doi.org/10.59717/j.xinn-life.2025.100131
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Wang M., Duan S., Li X., et al. (2025). Genome-driven Chinese precision medicine: Biobank-scale genomic research as a new paradigm. The Innovation Life 3:100131. https://doi.org/10.59717/j.xinn-life.2025.100131
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Figure 1.
Timeline of key events in human genomic research, sequencing, and technological advances
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Figure 2.
The geographical distribution of large-scale worldwide human genomic projects or regional biobanks
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Figure 3.
Overview of Chinese genomic projects
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Figure 4.
Evolutionary forces shaping biological adaptations in Chinese populations and neighbors
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Figure 5.
Representative genes associated with biological adaptation or medical consequences were identified from modern human adaptation, archaic introgression, and ancient human admixture
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