Facilitating the implementation of population-wide genomic screening across diverse populations and settings (focus)

Active Project Grant Awarded Last action

Award ID
R01HG013851
Recipient
Awarding agency
Obligated
$2,541,897

Award facts

Assistance listing
93.172 Human Genome Research
Completion date 44% complete
Funding agency
National Cancer Institute National Institutes of Health, Department of Health and Human Services
Place of performance
Winston-Salem, NC 27157, USA

Award details come from USAspending.gov.

Description

As the agency reported it.

Abstract
Population-wide genomic screening (PGS) for hereditary breast and ovarian cancer syndrome, lynch syndrome, and familial hypercholesterolemia offers great promise in identifying the 1-2% of the population that unknowingly carries a pathogenic variant that puts them at elevated risk for serious, yet preventable disease. Rapidly decreasing sequencing costs, endorsement of PGS by national bodies, and attention to precision medicine applications have rapidly accelerated the spread of PGS programs. To date, no clear guidelines or implementation strategies exist to support the rapid growth of PGS. Contextual factors, including program-level procedures, organizational structure, and characteristics of the patient population, influence implementation of these large-scale PGS initiatives. To help facilitate growth of PGS programs and enhance recruitment and retention of representative populations into genomic initiatives, we propose to identify best practices for PGS implementation and develop and test a freely available, online multicomponent implementation guide (focus toolkit). This project will establish a gold standard approach for equitably integrating PGS and offer the field generalizable methods and knowledge about PGS implementation. Specifically, using a stakeholder-engaged implementation mapping approach we will: 1) conduct a qualitative needs assessment among ten PGS programs (focus design sites) at various implementation stages (emerging, implementing, sustaining) guided by the consolidated framework for implementation research integrated with constructs from the health equity implementation framework, 2) develop and produce the focus toolkit consisting of equity-focused implementation strategies, materials, and protocols, and 3) evaluate the impact of the focus toolkit on reach, effectiveness, implementation, adoption, maintenance and health equity outcomes for PGS in 12 PGS sites (focus test sites) with diverse populations and settings using a stepped wedge cluster randomized trial design. All aspects of this project will be conducted by an exceptional investigative team comprised of individuals from diverse backgrounds and across career stages and supported by a ten-person implementation mapping advisory panel consisting of representatives from public health and regulatory agencies, communities and patient groups, and clinical stakeholders. Efforts are further bolstered by our plan for enhancing diverse perspectives, which advances the scientific and technical merit of our project through inclusivity and diverse perspectives among our team, the sites where research is conducted, and those who participate in the research. These findings will: 1) provide a standardized approach and evaluation framework for programs seeking to strategically implement and expand population-based approaches for identifying individuals and families at high risk of serious, yet preventable disease, 2) provide generalizable methods and knowledge about PGS, and 3) support efforts to bring the promise of precision health to all.

Transactions

Action Obligated Date
Amendment $297,205
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Amendment $371,994
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Amendment $386,000
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Original award $370,716
Show all 19

Subawards

Subrecipient Amount Awarded
University Of Texas Health Science Center At Houston The University of Texas Health Science Center at Houston (UTHealth) will collaborate with Wake Forest on the proposed project titled, Facilitating the… $52,728
Geisinger Clinic Ms. Hallquist will serve as Site PI for this project; Mr. Buchanan will serve as Co-I. Both will provide expertise in population genomic screening,… $34,072
Geisinger Clinic A1 3/19/2025 Geisinger Scope of Work Mr. Buchanan will serve as a co-Investigator for this project and provide his expertise in population genomic screening,… $20,568
University Of Texas Health Science Center At Houston A1 3-6-2025 Early Term eff 4/4/2025 The University of Texas Health Science Center at Houston (UTHealth) will collaborate with Medical University of South… $51,673
University Of North Carolina At Chapel Hill A1 5-8-2025 SCOPE OF WORKâ€â€�UNIVERSITY OF NORTH CAROLINA, CHAPEL HILL Dr. Roberts will serve as an MPI with Dr. Allen. Together they will share… $205,578

Quick answers

Who received award R01HG013851?

R01HG013851 was awarded to Wake Forest University Health Sciences by National Human Genome Research Institute (National Institutes of Health) on September 5, 2024.

How much is award R01HG013851 worth?

$2,541,897 has been obligated on R01HG013851.

Which agency awarded R01HG013851?

National Human Genome Research Institute (National Institutes of Health) awarded R01HG013851, with funding from National Cancer Institute (National Institutes of Health).

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