Genome-driven Chinese precision medicine: Biobank-scale genomic research as a new paradigm

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.