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Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics

Since the first sequencing of the human genome, associated sequencing costs have dramatically lowered, leading to an explosion of genomic data. This valuable data should in theory be of huge benefit to the global community, although unfortunately the benefits of these advances have not been widely d...

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Autores principales: Alvarellos, Maria, Sheppard, Hadley E., Knarston, Ingrid, Davison, Craig, Raine, Nathaniel, Seeger, Thorben, Prieto Barja, Pablo, Chatzou Dunford, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871385/
https://www.ncbi.nlm.nih.gov/pubmed/36704354
http://dx.doi.org/10.3389/fgene.2022.1045450
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author Alvarellos, Maria
Sheppard, Hadley E.
Knarston, Ingrid
Davison, Craig
Raine, Nathaniel
Seeger, Thorben
Prieto Barja, Pablo
Chatzou Dunford, Maria
author_facet Alvarellos, Maria
Sheppard, Hadley E.
Knarston, Ingrid
Davison, Craig
Raine, Nathaniel
Seeger, Thorben
Prieto Barja, Pablo
Chatzou Dunford, Maria
author_sort Alvarellos, Maria
collection PubMed
description Since the first sequencing of the human genome, associated sequencing costs have dramatically lowered, leading to an explosion of genomic data. This valuable data should in theory be of huge benefit to the global community, although unfortunately the benefits of these advances have not been widely distributed. Much of today’s clinical-genomic data is siloed and inaccessible in adherence with strict governance and privacy policies, with more than 97% of hospital data going unused, according to one reference. Despite these challenges, there are promising efforts to make clinical-genomic data accessible and useful without compromising security. Specifically, federated data platforms are emerging as key resources to facilitate secure data sharing without having to physically move the data from outside of its organizational or jurisdictional boundaries. In this perspective, we summarize the overarching progress in establishing federated data platforms, and highlight critical considerations on how they should be managed to ensure patient and public trust. These platforms are enabling global collaboration and improving representation of underrepresented groups, since sequencing efforts have not prioritized diverse population representation until recently. Federated data platforms, when combined with advances in no-code technology, can be accessible to the diverse end-users that make up the genomics workforce, and we discuss potential strategies to develop sustainable business models so that the platforms can continue to enable research long term. Although these platforms must be carefully managed to ensure appropriate and ethical use, they are democratizing access and insights to clinical-genomic data that will progress research and enable impactful therapeutic findings.
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spelling pubmed-98713852023-01-25 Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics Alvarellos, Maria Sheppard, Hadley E. Knarston, Ingrid Davison, Craig Raine, Nathaniel Seeger, Thorben Prieto Barja, Pablo Chatzou Dunford, Maria Front Genet Genetics Since the first sequencing of the human genome, associated sequencing costs have dramatically lowered, leading to an explosion of genomic data. This valuable data should in theory be of huge benefit to the global community, although unfortunately the benefits of these advances have not been widely distributed. Much of today’s clinical-genomic data is siloed and inaccessible in adherence with strict governance and privacy policies, with more than 97% of hospital data going unused, according to one reference. Despite these challenges, there are promising efforts to make clinical-genomic data accessible and useful without compromising security. Specifically, federated data platforms are emerging as key resources to facilitate secure data sharing without having to physically move the data from outside of its organizational or jurisdictional boundaries. In this perspective, we summarize the overarching progress in establishing federated data platforms, and highlight critical considerations on how they should be managed to ensure patient and public trust. These platforms are enabling global collaboration and improving representation of underrepresented groups, since sequencing efforts have not prioritized diverse population representation until recently. Federated data platforms, when combined with advances in no-code technology, can be accessible to the diverse end-users that make up the genomics workforce, and we discuss potential strategies to develop sustainable business models so that the platforms can continue to enable research long term. Although these platforms must be carefully managed to ensure appropriate and ethical use, they are democratizing access and insights to clinical-genomic data that will progress research and enable impactful therapeutic findings. Frontiers Media S.A. 2023-01-10 /pmc/articles/PMC9871385/ /pubmed/36704354 http://dx.doi.org/10.3389/fgene.2022.1045450 Text en Copyright © 2023 Alvarellos, Sheppard, Knarston, Davison, Raine, Seeger, Prieto Barja and Chatzou Dunford. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Alvarellos, Maria
Sheppard, Hadley E.
Knarston, Ingrid
Davison, Craig
Raine, Nathaniel
Seeger, Thorben
Prieto Barja, Pablo
Chatzou Dunford, Maria
Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics
title Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics
title_full Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics
title_fullStr Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics
title_full_unstemmed Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics
title_short Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics
title_sort democratizing clinical-genomic data: how federated platforms can promote benefits sharing in genomics
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871385/
https://www.ncbi.nlm.nih.gov/pubmed/36704354
http://dx.doi.org/10.3389/fgene.2022.1045450
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