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Global Alliance for Genomics and Health Launches Ambitious Roadmap

February 7, 2018
by David Raths
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Standards projects involve clinical and phenotypic data capture, cloud, genomic knowledge standards and ethics

The Global Alliance for Genomics and Health (GA4GH) has unveiled a strategic roadmap involving more than two dozen projects to be launched in 2018 and developed over the next one to three years, laying the groundwork for real-world genomic data sharing by 2022.

The ambitious GA4GH Strategic Roadmap includes the first 28 standards and frameworks to be developed as the organization focuses on aligning with the key needs of the international genomic data community.

The roadmap includes deliverables planned across the eight GA4GH work streams focused on the areas of Clinical & Phenotypic Data Capture, Cloud, Data Use & Researcher Identities, Data Security, Discovery, Genomic Knowledge Standards, Large Scale Genomics, and Regulatory & Ethics.

For instance, GA4GH is working on “Information Models for Clinical/Genomic Data Exchange.” It notes that while ontologies and terminologies provide the standard definitions for capturing clinical information, a standardized "information model" is required to successfully exchange that information between disparate computers. This standard will enable the exchange of both deep and high-level clinical phenotype information.

The roadmap was developed with input from the organization’s 15 Driver Projects, a series of international clinical and research initiatives that are helping guide the organization’s development work and ensure relevancy within the community.

“By 2022, we expect several million genomes to be available for use around the world and we need to be ready to put that data to best use for human health and medicine,” said Ewan Birney, chair of GA4GH and director of EMBL-EBI in Hinxton, UK, in a prepared statement. “The standards and frameworks being planned by the GA4GH Work Streams will make it possible for our community to share data across international and institutional bounds within the next five years.”

One project on the GA4GH roadmap, the “Internet of Genomics,” is described as a long-term, "moonshot" project to deliver critical connective infrastructure to enable the exchange of genomics and clinical information via the resulting application platform.

“We envision the Internet of Genomics to be a set of complementary services that together enable secure, federated, global search, discovery, exchange, and analysis of genomics and clinical data,” the strategic plan says.


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