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A call to action to scale up research and clinical genomic data sharing
Nature Reviews Genetics ( IF 39.1 ) Pub Date : 2024-10-07 , DOI: 10.1038/s41576-024-00776-0
Zornitza Stark, David Glazer, Oliver Hofmann, Augusto Rendon, Christian R. Marshall, Geoffrey S. Ginsburg, Chris Lunt, Naomi Allen, Mark Effingham, Jillian Hastings Ward, Sue L. Hill, Raghib Ali, Peter Goodhand, Angela Page, Heidi L. Rehm, Kathryn N. North, Richard H. Scott

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.



中文翻译:


呼吁采取行动,扩大研究和临床基因组数据共享



来自全球数百万人的基因组数据已生成,以推动精准医疗的发现和临床影响。需要降低集体使用这些数据的障碍,以公平地实现人口数据的多样性和规模的好处。我们研究了全球基因组数据共享的现状,包括数据共享模型从数据聚合到数据访问的演变,以及对于某些用例,使用跨多个环境的联合方法进行跨队列分析。我们重点介绍了与参与者、患者和社区参与相关的最佳实践的新兴例子;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。我们概述了我们可以共同采取的 12 项行动,以加大努力以实现安全的全球数据共享,并从证明可行性的项目转变为定期交叉分析研究和临床数据集,从而优化效益。

更新日期:2024-10-07
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