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

Area of Science:

• Genomics
• Biobanking
• Health Informatics

Background:

• Interpreting genetic variants requires detailed patient phenotyping and population references.
• Sharing biosamples and genomic/phenotypic data across institutions is crucial for research scalability.

Purpose of the Study:

• To establish globally scalable technology, policy, and procedures for sharing biosamples and associated genomic and phenotypic data.
• To create a collaborative model for research across multiple healthcare sites.

Main Methods:

• Launched the Genomic Research and Innovation Network (GRIN) involving three major children's hospitals.
• Implemented a federated IT infrastructure, harmonized biobanking protocols, and material transfer agreements.
• Developed open-source federated query infrastructure for genotype-phenotype databases.

Main Results:

• Established harmonized, broadly consented institutional review board (IRB) protocols for biobank enrollment.
• Created compatible, expanding biobanks and a secure platform for investigators to query data.
• Successfully conducted pilot studies in epilepsy and short stature, leading to publications and grant applications.

Conclusions:

• The GRIN collaboration provides the necessary technology, policy, and procedures for a scalable genomic research network.
• This model enables efficient and secure sharing of genomic and phenotypic data for clinical and research purposes.