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Updated: Jun 7, 2025

Biobank for Translational Medicine: Standard Operating Procedures for Optimal Sample Management
Published on: November 30, 2022
Biobanking with genetics shapes precision medicine and global health
C Scott Gallagher1, Geoffrey S Ginsburg1, Anjené Musick2
1All of Us Research Program, National Institutes of Health, Bethesda, MD, USA.
Abstract:
Precision medicine provides patients with access to personally tailored treatments based on individual-level data. However, developing personalized therapies requires analyses with substantial statistical power to map genetic and epidemiologic associations that ultimately create models informing clinical decisions. As one solution, biobanks have emerged as large-scale, longitudinal cohort studies with long-term storage of biological specimens and health information, including electronic health records and participant survey responses. By providing access to individual-level data for genotype-phenotype mapping efforts, pharmacogenomic studies, polygenic risk score assessments and rare variant analyses, biobanks support ongoing and future precision medicine research. Notably, due in part to the geographical enrichment of biobanks in Western Europe and North America, European ancestries have become disproportionately over-represented in precision medicine research. Herein, we provide a genetics-focused review of biobanks from around the world that are in pursuit of supporting precision medicine. We discuss the limitations of their designs, ongoing efforts to diversify genomics research and strategies to maximize the benefits of research leveraging biobanks for all.
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