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Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

Award Number: U01TR003201
ORGANIZATION: NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 07/01/2021
PERIOD OF PERFORMANCE END DATE: 06/30/2025

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Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants - Project Summary/Abstract There is growing societal and scientific interest in using genomic sequencing (GS) as screening to identify genetic predispositions for disease early in life to prevent or mitigate future illness. There is, however, skepticism about the clinical utility of GS in infants and concerns that it could lead to psychosocial harm, unjustified health expenditures, and unnecessary healthcare utilization, with associated iatrogenic morbidity. Over the past five years, within the NIH-funded NSIGHT Consortium, our team launched the “BabySeq Project,” the first randomized controlled trial (RCT) of GS in newborns. We implemented a clinical workflow for whole exome sequencing, created criteria for returnable gene/variant selection and interpretation, curated a list of 1,514 disease-associated genes with favorable validity, age of onset and penetrance; and designed novel reporting formats. We enrolled and randomized 325 families to a family history (FH) arm or a FH+GS arm, completed sequencing in the FH+GS arm, disclosed results to families and placed reports in the infants’ medical record. Our results were striking. Medically, we identified and disclosed unanticipated monogenic disease risks in 11% of infants randomized to GS, and through follow-up testing revealed previously undiscovered signs of underlying disease and unexplored family history in over half of these. We found no increased distress or disruption to the parent-child relationship in response to receiving GS results and no significant increases in downstream healthcare costs. Healthcare providers (HCPs) were able to constructively manage the information reported. The BabySeq Project created a template for studying the psychological impact, medical utility, and cost effectiveness of GS in healthy newborns. However, our BabySeq population was not diverse and thus our findings not generalizable. In order to disseminate this technology equitably, it will be crucial to understand its impact on ethnically and racially diverse populations. The goal of this study is to build on what we learned in BabySeq to study GS as screening in a population of underserved, primarily African American and Hispanic, infants. We will return pathogenic GS and copy number variation results and study the impact on families and HCPs, as well as the medical and economic impact. Through this research we will develop, implement, and evaluate a sustainable approach to GS as screening that leverages underserved community engagement to minimize distrust and maximize benefit. This novel study provides a unique opportunity to determine medical, behavioral and economic outcomes in an under-represented population of infants at three diverse CTSA sites, modeling the vision of GS as a part of healthcare implemented early in childhood. This project is significant because it proposes to generate much-needed evidence of the value of GS infants, innovative in its design as the first RCT to explore the impact of WGS in a diverse population of healthy infants, and feasible because this team of experts has experience in enrolling participants and the infrastructure to rigorously collect and analyze outcomes.


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 = -$77,633 )
2026	2024	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center for Advancing Translational Sciences	000	4	4/27/2026	NON-COMPETING CONTINUATION	-$77,633
														Subtotal = -$77,633

Issue Date FY: 2025 ( Subtotal = $0 )
2025	2024	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center for Advancing Translational Sciences	000	4	11/25/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $1,237,762 )
2024	2024	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center for Advancing Translational Sciences	001	4	6/14/2024	NON-COMPETING CONTINUATION	$1,237,762
2024	2023	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center for Advancing Translational Sciences	000	3	3/5/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $1,237,762

Issue Date FY: 2023 ( Subtotal = $1,237,967 )
2023	2023	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center for Advancing Translational Sciences	001	3	6/12/2023	NON-COMPETING CONTINUATION	$1,237,967
2023	2022	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center for Advancing Translational Sciences	000	2	3/10/2023	NON-COMPETING CONTINUATION	$0
														Subtotal = $1,237,967

Issue Date FY: 2022 ( Subtotal = $1,245,126 )
2022	2022	BRIGHAM AND WOMEN'S HOSPITAL, INC., THE	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center for Advancing Translational Sciences	000	2	6/23/2022	NON-COMPETING CONTINUATION	$1,245,126
														Subtotal = $1,245,126

Issue Date FY: 2021 ( Subtotal = $1,385,809 )
2021	2021	BRIGHAM AND WOMEN'S HOSPITAL, INC., THE	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center for Advancing Translational Sciences	000	1	7/1/2021	NEW	$1,385,809
														Subtotal = $1,385,809

Grand Total All Awards = $5,029,031

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Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

Award Number: U01TR003201

ORGANIZATION: NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 07/01/2021

PERIOD OF PERFORMANCE END DATE: 06/30/2025

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