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

被引:2
作者
Stark, Zornitza [1 ,2 ,3 ]
Glazer, David [4 ]
Hofmann, Oliver [1 ,3 ,5 ]
Rendon, Augusto [6 ]
Marshall, Christian R. [7 ]
Ginsburg, Geoffrey S. [8 ]
Lunt, Chris [8 ]
Allen, Naomi [9 ,10 ]
Effingham, Mark [10 ]
Ward, Jillian Hastings [11 ]
Hill, Sue L. [12 ]
Ali, Raghib [13 ,14 ,15 ]
Goodhand, Peter [16 ,17 ]
Page, Angela [16 ]
Rehm, Heidi L. [16 ,18 ,19 ]
North, Kathryn N. [1 ,3 ,20 ]
Scott, Richard H. [6 ,21 ,22 ]
机构
[1] Australian Genom, Melbourne, VIC, Australia
[2] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, VIC, Australia
[3] Univ Melbourne, Melbourne, VIC, Australia
[4] Verily Life Sci, South San Francisco, CA 94080 USA
[5] Univ Melbourne, Ctr Canc Res, Melbourne, VIC, Australia
[6] Genom England, London, England
[7] Hosp Sick Children, Div Genome Diag, Pediat Lab Med Dept, Toronto, ON, Canada
[8] NIH, All Us Res Program, Bethesda, MD USA
[9] Univ Oxford, Nuffield Dept Populat Hlth, Oxford, England
[10] UK Biobank, Stockport, England
[11] Participant Panel Genom England, London, England
[12] Natl Hlth Serv England, London, England
[13] Our Future Hlth, Manchester, England
[14] Oxford Univ Hosp NHS Trust, Oxford, England
[15] Univ Cambridge, MRC Epidemiol Unit, Cambridge, England
[16] Global Alliance Genom & Hlth, Toronto, ON, Canada
[17] Ontario Inst Canc Res, Toronto, ON, Canada
[18] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA
[19] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA
[20] Murdoch Childrens Res Inst, Melbourne, VIC, Australia
[21] Great Ormond St Hosp Sick Children, London, England
[22] UCL Great Ormond St Inst Child Hlth, London, England
关键词
INTERNATIONAL CODE; HEALTH; LABORATORIES; DISCOVERY; RESOURCE; CURATION; OUTCOMES; PROGRAM; CLINGEN; DISEASE;
D O I
10.1038/s41576-024-00776-0
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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. Global genomic data sharing enhances precision medicine. In this Roadmap, the authors outline evolving data-sharing models, best practices and policy impacts, and propose 12 actions to systematically scale up genomic data sharing.
引用
收藏
页码:141 / 147
页数:7
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