扩大研究与临床基因组数据共享的行动呼吁

IF 39.1 1区 生物学 Q1 GENETICS & HEREDITY Nature Reviews Genetics 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
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引用次数: 0

摘要

全球已产生了数百万人的基因组数据,这些数据推动了精准医学的发现并产生了临床影响。要公平地实现群体数据的多样性和规模所带来的益处,就必须降低集体使用这些数据的门槛。我们研究了全球基因组数据共享的现状,包括数据共享模式的演变,从数据聚合到数据访问,以及在某些用例中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新兴最佳实践范例;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。我们概述了我们可以共同采取的 12 项行动,以加大力度实现安全的全球数据共享,并从论证可行性的项目转向例行交叉分析研究和临床数据集,优化效益。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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A call to action to scale up research and clinical genomic data sharing

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.

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来源期刊
Nature Reviews Genetics
Nature Reviews Genetics 生物-遗传学
CiteScore
57.40
自引率
0.50%
发文量
113
审稿时长
6-12 weeks
期刊介绍: At Nature Reviews Genetics, our goal is to be the leading source of reviews and commentaries for the scientific communities we serve. We are dedicated to publishing authoritative articles that are easily accessible to our readers. We believe in enhancing our articles with clear and understandable figures, tables, and other display items. Our aim is to provide an unparalleled service to authors, referees, and readers, and we are committed to maximizing the usefulness and impact of each article we publish. Within our journal, we publish a range of content including Research Highlights, Comments, Reviews, and Perspectives that are relevant to geneticists and genomicists. With our broad scope, we ensure that the articles we publish reach the widest possible audience. As part of the Nature Reviews portfolio of journals, we strive to uphold the high standards and reputation associated with this esteemed collection of publications.
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