# Instrumenting the Delivery System for a Genomics Research Information Commons

> **NIH NIH U01** · BOSTON CHILDREN'S HOSPITAL · 2024 · $1,689,308

## Abstract

Project Summary
A patient’s genetic variant must be contextualized against a population-based reference and detailed phenotype
to assess its pathogenicity and impact on prognosis, based on the care trajectories and outcomes of other
patients with the variant, or similar variants of a particular gene. However, CTSA researchers do not have ready
access to a definitive and representative reference dataset linking the genome to diagnosis, clinical progression,
therapeutic response, and precision-adjusted laboratory reference ranges with the appropriate consents to
recontact patients if needed. In preliminary work, three of the leading children’s hospitals in the CTSA program
formed the Genomics Research and Innovation Network (GRIN) leveraging a combined, ethnically diverse
population with unparalleled representation across the pediatric disease spectrum. GRIN sites broadly consent
patients into compatible biobanking protocols. The next logical step is a truly federated CTSA-wide biobanking
initiative, with the informatics supporting a Genomics Information Commons (GIC). With phenotype data
produced as a byproduct of care, we develop the GIC technology, regulatory, and policy backbone, recognizing
both heterogeneity of IT systems across CTSA hospitals and local control imperatives for a successful federated
network. First, adhering to well-established common data models, each site exposes data to investigators across
the secure PIC-SURE meta application programming interface (API), fostering incorporation of multiple
heterogeneous clinical, omics, and environmental datasets. We demonstrate the self-scaling nature of the GIC
as two additional CTSAs join in a modular fashion. Second, we develop two portals for researchers: (A) Prep-to-
research portal. Investigators can execute genotype, phenotype, or combined genotype/phenotype queries, and
receive aggregate results in real time; and (B) Study portal. With proper approvals, patient-level data are readily
transferred to a cloud-hosted environment with data science tools (Jupyter Notebooks, R Studio), SMART on
FHIR apps and resources, and API access to external data sources (e.g., gnomAD, NHANES). Third, we develop
a GIC toolkit with policies for broadly consented biobank enrollment, investigator access, material transfer, and
collaboration to enable new sites to participate and/or self-organize into collaboration networks. Finally, we
leverage the GIC to build, and make publicly available, a knowledge resource of genetically-adjusted, precision
laboratory reference ranges across demographically diverse populations.

## Key facts

- **NIH application ID:** 10884147
- **Project number:** 5U01TR002623-05
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** Kenneth D. Mandl
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $1,689,308
- **Award type:** 5
- **Project period:** 2019-07-31 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10884147

## Citation

> US National Institutes of Health, RePORTER application 10884147, Instrumenting the Delivery System for a Genomics Research Information Commons (5U01TR002623-05). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10884147. Licensed CC0.

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