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bioRxiv · 10.1101/203554

Genomics in healthcare: GA4GH looks to 2022

Birney, E.·Vamathevan, J.·Goodhand, P.
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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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Birney, E., Vamathevan, J., Goodhand, P.. 2017-10-15. Genomics in healthcare: GA4GH looks to 2022. https://doi.org/10.1101/203554

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