The true value of genomic data will only be realized when it can be responsibly shared between systems; however, this is currently difficult as each system has its own internal data models and terminologies. Similarly, the expected scale and changes in sequencing and phenotypic measurement technology will demand new standards to address a variety of use cases (e.g., structural variation, large-scale gene expression data, proteomic data, and long read genomic variation data). While many partial solutions have been developed, including clinical ontologies not specific to precision medicine, they are either applied in subtly different ways or come from legacy systems which originated in the Human Genome Project.
Individual systems around the globe will directly benefit from efficient data storage and harmonization; but to realize the full potential of each will require extensive collaboration and integration across many organizations, such as EHR vendors, patient registries, clinical research consortia, and standards bodies. To enable this federated ecosystem for data and analysis, GA4GH develops, coordinates, and provides implementation support for a suite of secure standards and frameworks for more meaningful research and patient data harmonization and sharing. The GA4GH suite of standards will be applicable across the world’s accessible medical systems, knowledge bases, raw data sources, and patient-centered systems and will enable between-system comparisons.
Below, we provide an overview of the motivation, mandate, and vision for each of the eight GA4GH Work Streams and outline their planned technical and foundational deliverables for 2020/2021. These include entirely new standards, new major versions of existing approved standards, and optimization plans for existing approved standards through minor version updates. We provide expected submission dates and known implementations.
The GA4GH Product Roadmap is a living document that may be continually updated throughout the year, with Work Streams adding new proposed deliverables to their roadmaps and with proposed standards being approved by the GA4GH Steering Committee.
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