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

Journal Article (Journal Article)

PURPOSE: Clinicians and researchers must contextualize a patient's genetic variants against population-based references with detailed phenotyping. We sought to establish globally scalable technology, policy, and procedures for sharing biosamples and associated genomic and phenotypic data on broadly consented cohorts, across sites of care. METHODS: Three of the nation's leading children's hospitals launched the Genomic Research and Innovation Network (GRIN), with federated information technology infrastructure, harmonized biobanking protocols, and material transfer agreements. Pilot studies in epilepsy and short stature were completed to design and test the collaboration model. RESULTS: Harmonized, broadly consented institutional review board (IRB) protocols were approved and used for biobank enrollment, creating ever-expanding, compatible biobanks. An open source federated query infrastructure was established over genotype-phenotype databases at the three hospitals. Investigators securely access the GRIN platform for prep to research queries, receiving aggregate counts of patients with particular phenotypes or genotypes in each biobank. With proper approvals, de-identified data is exported to a shared analytic workspace. Investigators at all sites enthusiastically collaborated on the pilot studies, resulting in multiple publications. Investigators have also begun to successfully utilize the infrastructure for grant applications. CONCLUSIONS: The GRIN collaboration establishes the technology, policy, and procedures for a scalable genomic research network.

Full Text

Duke Authors

Cited Authors

  • Mandl, KD; Glauser, T; Krantz, ID; Avillach, P; Bartels, A; Beggs, AH; Biswas, S; Bourgeois, FT; Corsmo, J; Dauber, A; Devkota, B; Fleisher, GR; Heath, AP; Helbig, I; Hirschhorn, JN; Kilbourn, J; Kong, SW; Kornetsky, S; Majzoub, JA; Marsolo, K; Martin, LJ; Nix, J; Schwarzhoff, A; Stedman, J; Strauss, A; Sund, KL; Taylor, DM; White, PS; Marsh, E; Grimberg, A; Hawkes, C; Genomics Research and Innovation Network,

Published Date

  • February 2020

Published In

Volume / Issue

  • 22 / 2

Start / End Page

  • 371 - 380

PubMed ID

  • 31481752

Pubmed Central ID

  • PMC7000325

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1038/s41436-019-0646-3


  • eng

Conference Location

  • United States