R01HG014062
Project Grant
Overview
Grant Description
Service: Newborn genomic sequencing and federally-supported early intervention - Newborn whole genome sequencing (N-WGS), applied to healthy or critically-ill newborns, can identify rare genetic conditions which may have established medical treatments but are often still associated with developmental delays that impact long-term functioning.
Identifying such conditions in infancy could allow for timely receipt of developmental services (such as physical, occupational, and speech therapy) to support acquisition of core motor, cognitive, communication, and adaptive skills during critical windows in early development.
In the United States, the federally-supported Part C early intervention (PC-EI) system provides such developmental services at low or no cost to families of children under age 3.
However, the eligibility criteria for Part C services differs greatly state-to-state, and the extent to which a genetic diagnosis made via N-WGS in the newborn period would confer eligibility for affected infants or guide treatment planning in PC-EI is unknown.
The overall aim of the Supporting Early Receipt of Services for Infants and Children with Genetic Etiology (SERVICE) study is to empirically evaluate whether a central promise of N-WGS—access to earlier intervention—is realized for families in need of developmental services through the Part C system.
SERVICE leverages a timely opportunity to harmonize data collection across four ongoing research studies that together are following over 1000 children diagnosed via N-WGS distributed across 8 US states.
In Aim 1, we will analyze parent-reported survey data and health records to determine which families accessed Part C services for their child, the types of services received, and perceived benefits and challenges related to child symptoms and social determinants of health.
In Aim 2, we will conduct qualitative interviews with parents of children diagnosed via N-WGS and their early intervention providers to examine in greater depth the impact of a genetic diagnosis on access to and experiences with Part C services.
Aim 3 is anticipatory and intended to understand at a systems level the facilitators and barriers for Part C to optimally serve the growing number of infants diagnosed via N-WGS, with a focus on increasing collaboration between state-run PC-EI and newborn screening programs.
Results will guide recommendations for future families, researchers, and policymakers, and bolster efforts to ensure that health services implementation of N-WGS is associated with opportunities for families to access timely early intervention in their communities.
Identifying such conditions in infancy could allow for timely receipt of developmental services (such as physical, occupational, and speech therapy) to support acquisition of core motor, cognitive, communication, and adaptive skills during critical windows in early development.
In the United States, the federally-supported Part C early intervention (PC-EI) system provides such developmental services at low or no cost to families of children under age 3.
However, the eligibility criteria for Part C services differs greatly state-to-state, and the extent to which a genetic diagnosis made via N-WGS in the newborn period would confer eligibility for affected infants or guide treatment planning in PC-EI is unknown.
The overall aim of the Supporting Early Receipt of Services for Infants and Children with Genetic Etiology (SERVICE) study is to empirically evaluate whether a central promise of N-WGS—access to earlier intervention—is realized for families in need of developmental services through the Part C system.
SERVICE leverages a timely opportunity to harmonize data collection across four ongoing research studies that together are following over 1000 children diagnosed via N-WGS distributed across 8 US states.
In Aim 1, we will analyze parent-reported survey data and health records to determine which families accessed Part C services for their child, the types of services received, and perceived benefits and challenges related to child symptoms and social determinants of health.
In Aim 2, we will conduct qualitative interviews with parents of children diagnosed via N-WGS and their early intervention providers to examine in greater depth the impact of a genetic diagnosis on access to and experiences with Part C services.
Aim 3 is anticipatory and intended to understand at a systems level the facilitators and barriers for Part C to optimally serve the growing number of infants diagnosed via N-WGS, with a focus on increasing collaboration between state-run PC-EI and newborn screening programs.
Results will guide recommendations for future families, researchers, and policymakers, and bolster efforts to ensure that health services implementation of N-WGS is associated with opportunities for families to access timely early intervention in their communities.
Awardee
Funding Goals
NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.
Grant Program (CFDA)
Awarding / Funding Agency
Place of Performance
Washington
United States
Geographic Scope
State-Wide
Seattle Children's Hospital was awarded
Early Intervention Newborns with Genetic Conditions: N-WGS Impact Study
Project Grant R01HG014062
worth $3,268,197
from National Human Genome Research Institute in September 2025 with work to be completed primarily in Washington United States.
The grant
has a duration of 3 years 9 months and
was awarded through assistance program 93.172 Human Genome Research.
The Project Grant was awarded through grant opportunity Ethical, Legal and Social Implications (ELSI) Research (R01 Clinical Trial Optional).
Status
(Ongoing)
Last Modified 11/20/25
Period of Performance
9/25/25
Start Date
6/30/29
End Date
Funding Split
$3.3M
Federal Obligation
$0.0
Non-Federal Obligation
$3.3M
Total Obligated
Activity Timeline
Additional Detail
Award ID FAIN
R01HG014062
SAI Number
R01HG014062-2136497964
Award ID URI
SAI UNAVAILABLE
Awardee Classifications
Nonprofit With 501(c)(3) IRS Status (Other Than An Institution Of Higher Education)
Awarding Office
75N400 NIH National Human Genome Research Institute
Funding Office
75N400 NIH National Human Genome Research Institute
Awardee UEI
SZ32VTCXM799
Awardee CAGE
0Y4X2
Performance District
WA-90
Senators
Maria Cantwell
Patty Murray
Patty Murray
Modified: 11/20/25