Researchers have used a data-sharing innovation to categorise 16 uncertain BRCA variants as benign or likely benign, potentially allowing women with these variants to skip invasive surgeries. This could lead to thousands of people avoiding difficult treatments for no reason.
The Global Alliance for Genomics and Health (GA4GH) has released three new interoperability standards: Beacon API, refget API, and Workflow Execution Service (WES) API. These standards address variant discovery, patient case discovery, reference sequence harmonization, and cloud computing to enable responsible genomic data sharing.
The GA4GH Large Scale Genomics Work Stream introduces the htsget protocol, a standard for accessing large-scale genomic sequencing data online without file transfers. This enables global sharing and collaboration, addressing the growing need for big-data cloud-based approaches in genomics.
GA4GH has struck formal collaborations with 15 international genomic data initiatives, including Genomics England and the U.S. All of Us Research Program. The goal is to create framework and standards for responsible sharing of genomic data by 2022.
At AAAS 2017, the Global Alliance for Genomics and Health (GA4GH) explores local governance solutions for global data sharing. The session discusses policies to promote data sharing, including frameworks such as the Regulatory and Ethics Working Group's Framework for Responsible Sharing of Genomic and Health-Related Data.