RC2TR004391
Project Grant
Overview
Grant Description
CTSA RC2 Program at University of Utah: A translational platform for rapid genomic medicine - 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.
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.
Awardee
Funding Goals
NOT APPLICABLE
Grant Program (CFDA)
Awarding / Funding Agency
Place of Performance
Salt Lake City,
Utah
841131103
United States
Geographic Scope
Single Zip Code
Related Opportunity
Analysis Notes
Amendment Since initial award the total obligations have increased 300% from $769,349 to $3,079,611.
University Of Utah was awarded
CTSA RC2 Program: Rapid Genomic Medicine Platform
Project Grant RC2TR004391
worth $3,079,611
from National Center for Advancing Translational Sciences in June 2023 with work to be completed primarily in Salt Lake City Utah United States.
The grant
has a duration of 5 years and
was awarded through assistance program 93.350 National Center for Advancing Translational Sciences.
The Project Grant was awarded through grant opportunity Limited Competition: High Impact Specialized Innovation Programs in Clinical and Translational Science for UM1 CTSA Hub Awards (RC2 Clinical Trials Not Allowed).
Status
(Ongoing)
Last Modified 5/21/26
Period of Performance
6/5/23
Start Date
5/31/28
End Date
Funding Split
$3.1M
Federal Obligation
$0.0
Non-Federal Obligation
$3.1M
Total Obligated
Activity Timeline
Transaction History
Modifications to RC2TR004391
Additional Detail
Award ID FAIN
RC2TR004391
SAI Number
RC2TR004391-1685018354
Award ID URI
SAI UNAVAILABLE
Awardee Classifications
Public/State Controlled Institution Of Higher Education
Awarding Office
75NR00 NIH National Center for Advancing Translational Sciences
Funding Office
75NR00 NIH National Center for Advancing Translational Sciences
Awardee UEI
LL8GLEVH6MG3
Awardee CAGE
3T624
Performance District
UT-01
Senators
Mike Lee
Mitt Romney
Mitt Romney
Budget Funding
| Federal Account | Budget Subfunction | Object Class | Total | Percentage |
|---|---|---|---|---|
| National Center for Advancing Translational Sciences, National Institutes of Health, Health and Human Services (075-0875) | Health research and training | Grants, subsidies, and contributions (41.0) | $769,741 | 100% |
Modified: 5/21/26