# CTSA RC2 Program at University of Utah: A Translational Platform for Rapid Genomic Medicine

> **NIH NIH RC2** · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 2024 · $769,918

## Abstract

SUMMARY
While the past decade has seen an explosion in basic genomic research, the clinical implementation of
genomic medicine remains elusive. This Specialized Innovation Program (SIP) will identify and overcome
barriers that impede the translational science of rapid genomic medicine discoveries at the point of care by
assembling the infrastructure, technology, and strategies to design and develop a rapid genomic diagnostic
platform, using the newborn intensive care unit (NICU) as a laboratory. Emerging clinical guidelines support
the value and utility of rapid whole-genome sequencing in the NICU, yet multiple barriers impede the
widespread use of this technology at the point of care. Specifically, (1) less than half of rare Mendelian
diseases are solvable using current sequencing and analytical technologies; (2) industry electronic health
record (EHR)-based genomic medicine applications are essentially nonexistent, with a lack of EHR-interfaced
platforms that allow for visualization and team-based interpretation of genomic sequencing; (3) translational
science strategies to implement genomic medicine into clinical care are currently lacking. To overcome these
barriers, the SIP will design and develop an innovative, collaborative, patient-focused, and EHR-interfaced
translational platform that efficiently integrates rapid genomic medicine at the point of care, using the NICU as
a laboratory. Aim 1 will design novel tools that will improve the discovery of all forms of genetic variation,
including difficult-to-detect complex structural variants. These novel tools will be shared as open-source
software, with accompanying tools for dissemination and implementation, to empower translational genomic
science across the CTSA network. Aim 2 will deploy a portable EHR-interfaced platform for rapid genomic
diagnostics that is appropriate, acceptable, and feasible across EHR systems and will catalyze clinical and
translational science locally, regionally, and nationally. Aim 3 will use a participatory planning strategy and
state of the science dissemination and implementation science methods to develop, tailor, and operationalize
strategies to support NICU adoption, implementation, and sustainability of a translational platform for rapid
genomic diagnostics. These strategies will be compiled into a generalizable blueprint to foster genomic
innovations across the CTSA network and empower broader adoption and sustained implementation of
genomic medicine.

## Key facts

- **NIH application ID:** 10857258
- **Project number:** 5RC2TR004391-02
- **Recipient organization:** UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- **Principal Investigator:** PAUL ESTABROOKS
- **Activity code:** RC2 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $769,918
- **Award type:** 5
- **Project period:** 2023-06-05 → 2028-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10857258

## Citation

> US National Institutes of Health, RePORTER application 10857258, CTSA RC2 Program at University of Utah: A Translational Platform for Rapid Genomic Medicine (5RC2TR004391-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10857258. Licensed CC0.

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