The decreasing cost of genomic sequencing will yield millions of samples in the coming years from both research and healthcare. Sharing this data is necessary to understand human diseases and eventually help patients, but doing so requires the community to agree on common methods for collecting, storing, transferring, accessing, and analyzing data. This proposal will support the Global Alliance for Genomics and Health (GA4GH; to aid genomic research and human health by developing standards and policies for effective and responsible data sharing between institutions and countries around the world. To advance responsible sharing of global genomic and health-related data, genomics researchers, clinicians, bioinformaticians, software engineers, and industry experts will work together as a single GA4GH community to deliver genomic data sharing standards and frameworks (e.g., ontologies, guidelines, technical schemas). Building on our five years of experience convening stakeholders and developing work products, we will engage the genomics and health community in the very earliest stages of development to ensure our work is useful and ready for adoption. We will leverage the combined effort of several hundred active contributors to advance development activities beyond the capacity of our small staff team. These contributors will work within eight GA4GH Work Streams, each focused on developing critical standards and frameworks, including cloud-based data federation, scalable schemas and interfaces, data models, and file formats. We will engage deeply within the broader healthcare, research, and commercial sectors, including the launch of the Genomics in Health Implementation Forum to drive uptake in the clinical domain. A federated ecosystem for searching, discovering, exchanging, and analyzing genomic and clinical data will enable a global learning health system that advances both research and clinical care beyond their individual capacities and depends on standards and interoperable frameworks embraced by the entire community. We envision a future in which the full suite of GA4GH standards enables all clinicians, geneticists, and researchers to search across the world?s collective genomic data to reveal unanticipated gene-disease associations, make otherwise impossible drug-response predictions, and generally participate in genomics at a competitive pace?regardless of their means or location. The promise of genomic medicine lies at a crossroads that depends on harmonization across the community and will significantly enhance the human experience if we succeed. We believe that GA4GH is necessary to that success.

Public Health Relevance

Ethical, efficient sharing of federated genomic and health related data will transform disease diagnosis and treatment, reveal new patterns in human biology, allow researchers to expand studies of cancer and common disease associations to less common and more detailed analyses, strengthen genomic variant interpretation in rare diseases, and enable more informed clinical decisions. However, lack of interoperability?both technical and regulatory?has resulted in data that is siloed by institution, country, and disease area, locking away their potential to contribute to research and medicine. The Global Alliance for Genomics and Health (GA4GH) will convene the research and healthcare communities to agree on common methods for collecting, storing, transferring, accessing, and analyzing data in order to overcome these barriers, enable broad data sharing that transcends the boundaries of any single institution or country, and fulfill the human right of everyone to benefit from the advances of genomic research, as mandated by the Universal Declaration of Human Rights (Assembly 1948).

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Resource-Related Research Projects--Cooperative Agreements (U24)
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Special Emphasis Panel (ZHG1)
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Sofia, Heidi J
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Broad Institute, Inc.
United States
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