Genetics in medicine : official journal of the American College of Medical Genetics · 2019
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Mandl Kenneth D, Glauser Tracy, Krantz Ian D, Avillach Paul, Bartels Anna, Beggs Alan H, Biswas Sawona, Bourgeois Florence T, Corsmo Jeremy, Dauber Andrew, Devkota Batsal, Fleisher Gary R, Heath Allison P, Helbig Ingo, Hirschhorn Joel N, Kilbourn Judson, Kong Sek Won, Kornetsky Susan, Majzoub Joseph A, Marsolo Keith, Martin Lisa J, Nix Jeremy, Schwarzhoff Amy, Stedman Jason, Strauss Arnold, Sund Kristen L, Taylor Deanne M, White Peter S, Marsh Eric, Grimberg Adda, Hawkes Colin, Genomics Research and Innovation Network
Аннотация
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.
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.