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Utility of Genomic Sequencing in Community Care Contexts

Award Number: R01HG011598
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/22/2021
PERIOD OF PERFORMANCE END DATE: 12/31/2025

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Utility of Genomic Sequencing in Community Care Contexts - PROJECT SUMMARY/ABSTRACT Efforts to translate genomic sequencing technologies into clinical care have faced ongoing challenges defining and measuring utility. Evaluation of utility (and disutility) is particularly difficult in the context of efforts to translate genomic sequencing technologies like exome sequencing (ES) and genome sequencing (GS) to the diagnosis of children with undiagnosed genetic conditions, since these conditions are rarely responsive to pharmacological interventions and parents often express a wide variety of reasons for wanting a genomic diagnosis for their child. We hypothesize that previous efforts to identify the effects (positive, negative, and neutral) of ES and GS have missed important dimensions of utility that fall in the “middle ground” between conventional notions of clinical and personal utility. Most of the care and services that improve functioning and quality of life for children with complex genetic conditions occur outside doctors’ offices: physical therapy; occupational therapy; speech-language pathology; behavioral intervention and other mental healthcare; and special education services. However, it is unknown whether receiving a genomic diagnosis currently provides utility or disutility in these community contexts, and what evidence might be needed to increase utility and minimize disutility. This project will address this gap through a rigorous study of potential and actual effects that children with undiagnosed genetic conditions might experience in community settings as a result of receiving a genomic diagnosis. The overall aim of this study is to identify (1) community-based utilities currently being realized following genomic diagnosis, (2) perspectives of community-based professionals regarding the potential utility of such diagnoses, and (3) sources of information (including medical professionals, parent support groups, and social media) that might support utility for rare genetic conditions.


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 = $0 )
2026	2024	UNIVERSITY OF LOUISVILLE	2301 S 3RD ST	LOUISVILLE	KY	40208	JEFFERSON	USA	Human Genome Research	000	4	12/5/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $716,267 )
2024	2024	UNIVERSITY OF LOUISVILLE	2301 S 3RD ST	LOUISVILLE	KY	40208	JEFFERSON	USA	Human Genome Research	000	4	7/5/2024	NON-COMPETING CONTINUATION	$716,267
														Subtotal = $716,267

Issue Date FY: 2023 ( Subtotal = $749,333 )
2023	2023	UNIVERSITY OF LOUISVILLE	2301 S 3RD ST	LOUISVILLE	KY	40208	JEFFERSON	USA	Human Genome Research	000	3	6/14/2023	NON-COMPETING CONTINUATION	$749,333
														Subtotal = $749,333

Issue Date FY: 2022 ( Subtotal = $749,333 )
2022	2022	UNIVERSITY OF LOUISVILLE	2301 S 3RD ST	LOUISVILLE	KY	40208	JEFFERSON	USA	Human Genome Research	001	2	7/8/2022	NON-COMPETING CONTINUATION	$749,333
2022	2021	UNIVERSITY OF LOUISVILLE	2301 S 3RD ST	LOUISVILLE	KY	40208	JEFFERSON	USA	Human Genome Research	000	1	11/9/2021	NEW	$0
														Subtotal = $749,333

Issue Date FY: 2021 ( Subtotal = $818,720 )
2021	2021	UNIVERSITY OF LOUISVILLE	2301 S 3RD ST	LOUISVILLE	KY	40208	JEFFERSON	USA	Human Genome Research	000	1	9/22/2021	NEW	$818,720
														Subtotal = $818,720

Grand Total All Awards = $3,033,653

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Utility of Genomic Sequencing in Community Care Contexts

Award Number: R01HG011598

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 09/22/2021

PERIOD OF PERFORMANCE END DATE: 12/31/2025

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