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Journal article

The value of large-scale programmes in human genomics

Abstract:
Large national genomic programmes have been created in many countries, including France, England and Germany, to advance the realisation of the potential genomic medicine holds to significantly contribute to society by improving health, and driving science, innovation and the economy. To reach this ambition, these programmes collect, manage and analyse big genomic datasets. While there is much talk about the promises, and hence the importance of genomics, there is little in-depth analysis of the actual contribution or value—here understood as benefits—of genomics for society at large. To explore the issue of the value of large-scale genomic programmes for society, UK-FR-D+ GENE held an international workshop focusing on a variety of levels—societal, economic, clinical, scientific, and population-wide level—at which such benefits might be observed. First, the broader societal implications of large genome programmes and their impact for public trust were discussed. Second, the meaning of fair and just allocation of public resources, based on considerations of the economic costs and benefits of genomic innovations, was examined. Third, the benefits of these innovations for stakeholders (clinicians, patients, and families) at the clinical level were investigated. Fourth, the scope and limitations of genomics at the scientific level were discussed. Finally, the potential of genomics to improve health at the population level was explored. Providing an insight into the benefits of large genomic programmes on various levels, the workshop concluded by defining several criteria that should be considered to ensure benefits for society when implementing large genomic programmes.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41431-025-01844-7

Authors

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Institution:
University of Oxford
Division:
MSD
Department:
Nuffield Department of Population Health
Research group:
Ethox Centre
Role:
Author
ORCID:
0000-0002-5714-3905
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Nuffield Department of Population Health
Research group:
Ethox Centre
Role:
Author
ORCID:
0000-0001-9344-3297
More by this author
Role:
Author
ORCID:
0000-0001-7192-7282


More from this funder
Funder identifier:
https://ror.org/03n0ht308
Grant:
ES/T00908X/1
More from this funder
Funder identifier:
https://ror.org/05crdvn36
Grant:
203132/Z/16/Z


Publisher:
Springer Nature
Journal:
European Journal of Human Genetics More from this journal
Volume:
33
Issue:
5
Pages:
563–569
Place of publication:
England
Publication date:
2025-04-08
Acceptance date:
2025-03-25
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
Pmid:
40200064


Language:
English
Keywords:
Pubs id:
2117295
Local pid:
pubs:2117295
Deposit date:
2025-04-24
ARK identifier:

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