The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Mandl, K. D., Glauser, T., Krantz, I. D., Avillach, P., Bartels, A., Beggs, A. H., Biswas, S., Bourgeois, F. T., Corsmo, J., Dauber, A., Devkota, B., Fleisher, G. R., Heath, A. P., Helbig, I., Hirschhorn, J. N., Kilbourn, J., Kong, S. W., Kornetsky, S., Majzoub, J. A., Marsolo, K., Martin, L. J., Nix, J., Schwarzhoff, A., Stedman, J., Strauss, A., Sund, K. L., Taylor, D. M., White, P. S., Marsh, E., Grimberg, A., Hawkes, C., Genomics Research, & Network, I. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 22(2):371–380, February, 2020.
doi  abstract   bibtex   
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.
@article{mandl_genomics_2020,
	title = {The {Genomics} {Research} and {Innovation} {Network}: creating an interoperable, federated, genomics learning system},
	volume = {22},
	issn = {1530-0366},
	shorttitle = {The {Genomics} {Research} and {Innovation} {Network}},
	doi = {10.1038/s41436-019-0646-3},
	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.},
	language = {eng},
	number = {2},
	journal = {Genetics in Medicine: Official Journal of the American College of Medical Genetics},
	author = {Mandl, Kenneth D. and Glauser, Tracy and Krantz, Ian D. and Avillach, Paul and Bartels, Anna and Beggs, Alan H. and Biswas, Sawona and Bourgeois, Florence T. and Corsmo, Jeremy and Dauber, Andrew and Devkota, Batsal and Fleisher, Gary R. and Heath, Allison P. and Helbig, Ingo and Hirschhorn, Joel N. and Kilbourn, Judson and Kong, Sek Won and Kornetsky, Susan and Majzoub, Joseph A. and Marsolo, Keith and Martin, Lisa J. and Nix, Jeremy and Schwarzhoff, Amy and Stedman, Jason and Strauss, Arnold and Sund, Kristen L. and Taylor, Deanne M. and White, Peter S. and Marsh, Eric and Grimberg, Adda and Hawkes, Colin and {Genomics Research and Innovation
Network}},
	month = feb,
	year = {2020},
	pmid = {31481752},
	pmcid = {PMC7000325},
	keywords = {Biological Specimen Banks, Biomedical Research, Data Management, Databases, Factual, Databases, Genetic, Electronic Data Processing, Ethics Committees, Research, Genomics, Humans, Information Dissemination, Information Storage and Retrieval, Research Personnel, biobanking, electronic health records, federated networks, genomic medicine, information technology},
	pages = {371--380},
}
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