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Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomics

Award Number: R01HG012271
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

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Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomics - Project Summary/Abstract Genomic sequencing offers an unprecedented opportunity to identify clinically relevant genetic variants, yet there are many challenges to overcome before this technology can be applied routinely in the healthy population to identify individuals with actionable disorders in time to prevent or ameliorate symptoms. This project explores an innovative age-based genomic screening (ABGS) paradigm that aims to provide targeted and highly actionable genetic information to parents via their child’s routine wellness visits, thereby avoiding some of the more difficult aspects of genome-scale sequencing while retaining most of the benefits. We will utilize an established metric that evaluates parameters relevant to “clinical actionability” and defines the age of onset and/or the age of intervention, to identify conditions that would be applicable for screening. In collaboration with a diverse Expert Deliberative Group, we will define a consensus framework for carrying out the ABGS program using targeted sequencing panels at specified time-points during infancy and childhood. We will engage community stakeholders to raise awareness of the ABGS program and obtain critical feedback to inform the development of accessible study materials. We will apply the Genetic Medicine Implementation Research framework and utilize rigorous methods and measures to identify potential barriers and facilitators and develop strategies to address them. Finally, we will conduct a pilot project in a small number of primary care pediatrics clinics assessing preliminary outcomes, including perspectives of parents and providers, and the feasibility, acceptability, and utility of ABGS. The expected result of this proposal is a validated, stakeholder-informed, and practical ABGS program that includes hundreds of conditions that are actionable throughout the lifespan, setting the stage for a future longitudinal study in a larger number of practices that can assess clinical and health economic outcomes. Throughout this work, we will employ a community-based participatory research approach to seek out perspectives from diverse stakeholders and emphasize the importance of studying ABGS in a wide range of settings. The long-term goal of this research program is to create a broadly applicable genomic screening program that extends well beyond newborn screening and can be incorporated into routine well child care. We envision that this program will also prepare individuals to eventually make informed decisions about the potential benefits and risks of screening for adult-onset conditions during adulthood, thus creating a connection between genomic screening efforts in all age groups.


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: 2025 ( Subtotal = $0 )
2025	2024	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Human Genome Research	000	3	4/11/2025	SUPPLEMENT FOR EXPANSION	$0
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $986,005 )
2024	2024	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Human Genome Research	004	3	9/24/2024	NON-COMPETING CONTINUATION	$0
2024	2024	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Human Genome Research	002	3	8/21/2024	NON-COMPETING CONTINUATION	$880,318
2024	2024	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Human Genome Research	001	2	5/16/2024	SUPPLEMENT FOR EXPANSION	$16,592
2024	2024	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Human Genome Research	003	3	8/22/2024	SUPPLEMENT FOR EXPANSION	$89,095
2024	2023	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Human Genome Research	000	2	4/11/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $986,005

Issue Date FY: 2023 ( Subtotal = $918,019 )
2023	2023	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Human Genome Research	000	2	6/29/2023	NON-COMPETING CONTINUATION	$918,019
														Subtotal = $918,019

Issue Date FY: 2022 ( Subtotal = $933,000 )
2022	2022	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Human Genome Research	000	1	9/16/2022	NEW	$933,000
														Subtotal = $933,000

Grand Total All Awards = $2,837,024

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Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomics

Award Number: R01HG012271

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

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