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

Genet Med
Authors
Abstract

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.

Year of Publication
2020
Journal
Genet Med
Volume
22
Issue
2
Pages
371-380
Date Published
2020 02
ISSN
1530-0366
DOI
10.1038/s41436-019-0646-3
PubMed ID
31481752
PubMed Central ID
PMC7000325
Links
Grant list
U01 TR002623 / TR / NCATS NIH HHS / United States
U54 HD090255 / HD / NICHD NIH HHS / United States
R01 GM104303 / GM / NIGMS NIH HHS / United States
R01 HD075802 / HD / NICHD NIH HHS / United States
R01 MH107205 / MH / NIMH NIH HHS / United States
R24 OD024622 / OD / NIH HHS / United States