The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Purpose: Clinicians and researchers must contextualize a patient’s geneticvariants against population-based references with detailed phenotyping. Wesought to establish globally scalable technology, policy, and procedures forsharing biosamples and associated genomic and phenotypic data on broadlyconsented cohorts, across sites of care. Methods: Three of the nation’s leading children’s hospitals launched theGenomic Research and Innovation Network (GRIN), with federated informationtechnology infrastructure, harmonized biobanking protocols, and materialtransfer agreements. Pilot studies in epilepsy and short stature were completedto design and test the collaboration model. Results: Harmonized, broadly consented institutional review board (IRB)protocols were approved and used for biobank enrollment, creatingever-expanding, compatible biobanks. An open source federated queryinfrastructure was established over genotype–phenotype databases at the threehospitals. Investigators securely access the GRIN platform for prep to researchqueries, receiving aggregate counts of patients with particular phenotypes orgenotypes in each biobank. With proper approvals, de-identified data is exportedto a shared analytic workspace. Investigators at all sites enthusiasticallycollaborated on the pilot studies, resulting in multiple publications.Investigators have also begun to successfully utilize the infrastructure forgrant applications. Conclusions: The GRIN collaboration establishes the technology, policy, andprocedures for a scalable genomic research network.