The global alliance for genomics and health: towards international sharing of genomic and clinical data

Abstract

The Global Alliance for Genomics and Health (GA4GH) was officially launched in March 2014. The aims of the Global Alliance are to accelerate the world-wide effort to responsibly aggregate, analyse and share large amounts of genomic and clinical information to advance the understanding, diagnosis, and treatment for cancer, inherited diseases, infectious diseases, and drug responses. The alliance consists of over 200 of the world's leading biomedical research institutions, healthcare providers, information technology and life science companies, funders of research, and disease and patient advocacy organizations. As part of four Working Groups (Clinical, Regulatory and Ethics, Data, and Security), Alliance Members have already developed products such as: • A Framework for Responsible Sharing of Genomic and Health-Related Data , containing foundational governance principles and guidelines for research. This Framework is guided by the Universal Declaration of Human Rights and the right of scientific freedom of all citizens to share in the benefits of scientific progress and for scientists to be recognised for their contributions. • A GA4GH Genomics API (published at www.ga4gh.org ) that allows researchers to exchange genomic information, including sequence reads and reference variation, across organisations and platforms. The Genomics API comes with a compliance test and reference implementation, to facilitate adoption and ensure interoperability. The Global Alliance is also supporting key data sharing projects being undertaken by Alliance Members. These projects will demonstrate value and promote real-world learning: • An international Matchmaker Exchange, that will facilitate researchers and clinicians finding other patients with similar rare phenotypic and genotypic profiles through a connected system of 'Matchmakers'. • The Global BRCA Challenge is being driven by leaders in the field internationally with the aim of sharing and pooling genotype and phenotype data. This initiative has the potential to dramatically increase our ability to estimate BRCA1 and BRCA2 -related cancer risks.