Rxivist logo

Genomics in healthcare: GA4GH looks to 2022

By Ewan Birney, Jessica Vamathevan, Peter Goodhand

Posted 15 Oct 2017
bioRxiv DOI: 10.1101/203554

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.

Download data

  • Downloaded 4,735 times
  • Download rankings, all-time:
    • Site-wide: 2,243
    • In genomics: 234
  • Year to date:
    • Site-wide: 8,215
  • Since beginning of last month:
    • Site-wide: 9,683

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide