RT Journal Article
SR Electronic
T1 Genomics in healthcare: GA4GH looks to 2022
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 203554
DO 10.1101/203554
A1 Ewan Birney
A1 Jessica Vamathevan
A1 Peter Goodhand
YR 2017
UL http://biorxiv.org/content/early/2017/10/15/203554.abstract
AB 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.