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.

精准医疗为患者提供了基于个人层面数据的个人定制治疗。然而，开发个性化疗法需要具有强大统计能力的分析，以绘制遗传和流行病学关联，最终创建为临床决策提供信息的模型。作为一种解决方案，生物样本库已成为大规模的纵向队列研究，长期存储生物样本和健康信息，包括电子健康记录和参与者调查回复。通过为基因型-表型定位工作、药物基因组学研究、多基因风险评分评估和罕见变异分析提供对个体水平数据的访问，生物样本库支持正在进行和未来的精准医学研究。值得注意的是，部分由于西欧和北美生物样本库的地理丰富，欧洲血统在精准医学研究中占比过高。在本文中，我们对来自世界各地的致力于支持精准医疗的生物样本库进行了以遗传学为重点的综述。我们讨论了他们设计的局限性、为实现基因组学研究多样化而做出的持续努力，以及最大限度地利用生物样本库为所有人提供研究利益的策略。