Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Genet Med. 2020 Feb;22(2):371-380. doi: 10.1038/s41436-019-0646-3. Epub 2019 Sep 4.
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.
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.
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.
The GRIN collaboration establishes the technology, policy, and procedures for a scalable genomic research network.
临床医生和研究人员必须将患者的基因变异与基于人群的参考资料相结合，并进行详细的表型分析。我们旨在建立全球性的可扩展技术、政策和程序，以便在广泛同意的队列中，在护理点之间共享生物样本以及相关的基因组和表型数据。
美国三家领先的儿童医院启动了基因组研究和创新网络（GRIN），拥有联合的信息技术基础设施、协调的生物库协议和物质转移协议。完成了癫痫和身材矮小的试点研究，以设计和测试合作模式。
协调一致、广泛同意的机构审查委员会（IRB）协议获得批准并用于生物库招募，创建了不断扩大、兼容的生物库。在三家医院的基因型-表型数据库上建立了开源联合查询基础设施。研究人员可以安全地访问 GRIN 平台进行研究查询前的准备工作，在每个生物库中收到具有特定表型或基因型的患者的汇总计数。经过适当的批准，将去识别数据导出到共享的分析工作区。所有站点的研究人员都积极参与试点研究，促成了多篇出版物的发表。研究人员还开始成功地利用该基础设施申请拨款。
GRIN 合作建立了可扩展的基因组研究网络的技术、政策和程序。
