We present an overview of our efforts to ingest genomic knowledge across resources and use genomic knowledge standards (GKS) to match genomic findings from the clinical setting to these aggregate knowledge sources. We will review how genetic testing orders, results, and associated genomic data are transmitted between labs and providers using Epic.

Gaps in the representation and completeness of genomic data and how this is associated with genomic knowledge sources will be reviewed, as well as our assessment of challenges presented by these gaps.

We’ll conclude with a discussion of how development and adoption of GA4GH genomic knowledge standards can help address these challenges and reduce burden on genomic data providers and consumers.