Stark Zornitza, Glazer David, Hofmann Oliver, Rendon Augusto, Marshall Christian R, Ginsburg Geoffrey S, Lunt Chris, Allen Naomi, Effingham Mark, Hastings Ward Jillian, Hill Sue L, Ali Raghib, Goodhand Peter, Page Angela, Rehm Heidi L, North Kathryn N, Scott Richard H
Australian Genomics, Melbourne, Victoria, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Nat Rev Genet. 2025 Feb;26(2):141-147. doi: 10.1038/s41576-024-00776-0. Epub 2024 Oct 7.
Genomic data from millions of individuals have been generated worldwide to drive discovery and clinical impact in precision medicine. Lowering the barriers to using these data collectively is needed to equitably realize the benefits of the diversity and scale of population data. We examine the current landscape of global genomic data sharing, including the evolution of data sharing models from data aggregation through to data visiting, and for certain use cases, cross-cohort analysis using federated approaches across multiple environments. We highlight emerging examples of best practice relating to participant, patient and community engagement; evolution of technical standards, tools and infrastructure; and impact of research and health-care policy. We outline 12 actions we can all take together to scale up efforts to enable safe global data sharing and move beyond projects demonstrating feasibility to routinely cross-analysing research and clinical data sets, optimizing benefit.
全球已产生了来自数百万个体的基因组数据,以推动精准医学的发现和临床应用。为了公平地实现人口数据多样性和规模带来的益处,需要降低集体使用这些数据的障碍。我们审视了全球基因组数据共享的现状,包括从数据聚合到数据访问的数据共享模式的演变,以及对于某些用例,在多个环境中使用联合方法进行跨队列分析的情况。我们强调了与参与者、患者和社区参与相关的最佳实践的新兴示例;技术标准、工具和基础设施的演变;以及研究和医疗保健政策的影响。我们概述了我们共同可以采取的12项行动,以加大力度实现安全的全球数据共享,并从展示可行性的项目迈向常规地对研究和临床数据集进行交叉分析,从而优化效益。