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Population genomic screening in primary care practices serving an urban population

Award Number: U01HG014629
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 06/23/2026
PERIOD OF PERFORMANCE END DATE: 03/31/2031

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Population genomic screening in primary care practices serving an urban population - Population genomic screening represents the next frontier in preventive healthcare. Early identification of inherited conditions that 1) are common in the general population; 2) have a well-defined disease risk; 3) are under-ascertained; and 4) have established medical management guidelines would substantially decrease the morbidities and mortalities associated with these diseases. However, there are multiple barriers to implementation at the system-, clinician-, and patient-levels that have impeded moving population genomic screening forward. An integrated platform based on and linked through the electronic health record (EHR) can support the use of theoretically guided implementation strategies, such as those based on the Consolidated Framework for Implementation Research (CFIR), to address barriers currently impeding population genomic screening. We propose to include CDC Tier 1 applications (hereditary breast and ovarian cancer, adding PALB2; Lynch Syndrome; Familial Hypercholesterolemia; Hereditary Transthyretin Amyloidosis; and Hereditary Hemochromatosis). In collaboration with the NHGRI population screening network supported by this initiative, we will leverage our experience and expertise in genomic medicine, EHR-integration, community engagement, implementation science, digital interventions supporting genetic testing, primary care, clinical informatics, and dissemination to 1) design a community-informed approach to implementing population genomic screening in four primary care practices that addresses multi-level barriers to screening; 2) implement this approach to recruit ≥5000 patients for genetic testing; and 3) disseminate our results and learnings to the broader community. To design our implementation approach, we will use our experience with community-informed methods, implementation mapping, and CFIR, working with the network steering committee. Once designed, a single-arm study using our community- and CFIR-informed implementation strategies will recruit 5000 patients in 12-months. The EHR will be leveraged as a tool to deliver implementation strategies around recruitment to patients and clinicians and provide clinical decision support to guide follow-up care for PCPs. We will assess patient characteristics via the EHR and patient reported outcomes at baseline, post-disclosure and 24 months to assess acceptability and outcomes of population genomic screening. Outcomes include reach (proportion of sample screened), implementation (5,000 patients undergoing genetic testing in 12 months) and effectiveness (100% of the sample followed to assess clinical outcomes). All patients’ metadata will be shared with the network. Dissemination of validated information and tools through AnVIL, presentations, cloud-based systems, and community-based pathways will be done so that other institutions can adopt our approach to population genomic screening. Achieving our aims will lead to an effective and sustainable framework for broad implementation of population genomic screening in primary care.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $963,225 )
2026	2026	TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA, THE	3451 WALNUT ST	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Human Genome Research	000	1	6/26/2026	NEW	$963,225
														Subtotal = $963,225

Grand Total All Awards = $963,225

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Population genomic screening in primary care practices serving an urban population

Award Number: U01HG014629

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 06/23/2026

PERIOD OF PERFORMANCE END DATE: 03/31/2031

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