Global Alliance for Genomics and Health


The Global Alliance for Genomics and Health is an international consortium that is developing standards for responsibly collecting, storing, analyzing, and sharing genomic data in order to enable an "internet of genomics". GA4GH was founded in 2013.
GA4GH is founded on the Framework for the Responsible Sharing of Genomic and Health-related Data, which is based on the human right to benefit from scientific advances.
WWW genomicsandhealth.org

Organization

GA4GH maintained by four Host Institutions. Heidi Rehm is the current GA4GH chair and Peter Goodhand is the Chief Executive Officer. Kathryn North is the current Vice Chair and Ewan Birney is the past chair.
Organizational members of the alliance include:

Funding

GA4GH is supported by a "Funder's Forum" composed of organizations whose funding commitments exceed USD $200,000 annually, for at least three years. Forum members include:

Activities

All GA4GH standards are developed by six technical and two foundational "Work Streams" in collaboration with real-world genomic data initiatives called "Driver Projects."

GA4GH Work Streams

  1. Regulatory and Ethics  
  2. Data Security  
  3.  
  4. Clinical & Phenotypic Data Capture  
  5. Data Use and Researcher Identities  
  6.  
  7. Genomic Knowledge Standards  

GA4GH Driver Projects

  1. All of US Research Program
  2. Australian Genomics
  3. BRCA Challenge
  4. Canadian Distributed Infrastructure for Genomics
  5. Clinical Genome Resource
  6. ELIXIR Beacon
  7. The European Nucleotide Archive, European Variation Archive, and European Genome-phenome Archive at EMBL-EBI
  8. EUCANCan
  9. European Joint Programme on Rare Diseases
  10. Genomics England
  11. Human Cell Atlas
  12. Human Heredity and Health in Africa
  13. International Cancer Genome Consortium - ARGO
  14. Matchmaker Exchange
  15. The Monarch Initiative
  16. National Cancer Institute Data Commons Framework and Genomic Data Commons
  17. Trans-Omics for Precision Medicine

Genomic Beacon API

The Genomic Beacon API is a standard of GA4GH. The "Beacon" protocol was originally proposed as a simple standard for the discovery of genomic sequence variants using federated queries against a potentially large number of genomic databases with implicit security provided through the use of limited query parameters and restriction to Boolean responses. In the version 2 of the protocol the API supports "phenoclinical" queries as well as responses containing versions of the matched records.