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Genomics in healthcare: GA4GH looks to 2022

View ORCID ProfileEwan Birney, View ORCID ProfileJessica Vamathevan, Peter Goodhand
doi: https://doi.org/10.1101/203554
Ewan Birney
1European Molecular Biology Laboratory–European Bioinformatics Institute, Hinxton, Cambridge, United Kingdom
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  • For correspondence: birney@ebi.ac.uk
Jessica Vamathevan
1European Molecular Biology Laboratory–European Bioinformatics Institute, Hinxton, Cambridge, United Kingdom
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Peter Goodhand
2Ontario Institute for Cancer Research, Toronto, Ontario, Canada
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Abstract

The Global Alliance for Genomics and Health (GA4GH), the standards-setting body in genomics for healthcare, aims to accelerate biomedical advancement globally. We describe the differences between healthcare- and research-driven genomics, discuss the implications of global, population-scale collections of human data for research, and outline mission-critical considerations in ethics, regulation, technology, data protection, and society. We present a crude model for estimating the rate of healthcare-funded genomes worldwide that accounts for the preparedness of each country for genomics, and infers a progression of cancer-related sequencing over time. We estimate that over 60 million patients will have their genome sequenced in a healthcare context by 2025. This represents a large technical challenge for healthcare systems, and a huge opportunity for research. We identify eight major practical, principled arguments to support the position that virtual cohorts of 100 million people or more would have tangible research benefits.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted October 15, 2017.
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Genomics in healthcare: GA4GH looks to 2022
Ewan Birney, Jessica Vamathevan, Peter Goodhand
bioRxiv 203554; doi: https://doi.org/10.1101/203554
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Genomics in healthcare: GA4GH looks to 2022
Ewan Birney, Jessica Vamathevan, Peter Goodhand
bioRxiv 203554; doi: https://doi.org/10.1101/203554

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