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…

The National Human Genome Research Institute (NHGRI, CFDA 93.172) awarded Seattle Children's Hospital $3.27 million on September 25, 2025, for the Supporting Early Receipt of Services for Infants and Children with Genetic Etiology (SERVICE) study, concluding June 30, 2029. The study empirically evaluates whether newborn whole genome sequencing (N-WGS) facilitates earlier access to federally-supported Part C Early Intervention (PC-EI) developmental services for infants diagnosed with rare genetic conditions. Leveraging data harmonization across four ongoing research studies tracking over 1,000 N-WGS-diagnosed children across eight U.S. states, the SERVICE study delivers two primary research products: (1) analysis of parent-reported survey data and health records to determine Part C service uptake, service types, perceived benefits, and barriers related to child symptoms and social determinants of health; and (2) qualitative interviews with parents and early intervention providers examining the experiences, implementation challenges, and care coordination outcomes associated with genetic diagnoses in infancy.

The award engages five sub-awardees to deliver specialized research components. Columbia University Health Sciences Division (site Principal Investigator Dr. Appelbaum) harmonizes data collection instruments and manages site-level institutional review board processes and data access. Case Western Reserve University (Dr. Aaron Goldenberg, Director of the Bioethics Center for Community Health and Genomic Equity) provides ethical, legal, and social implications expertise and leads qualitative interview development and analysis. Harvard Pilgrim Health Care supports data harmonization with the BabySeq study, project management, and administrative operations. Research Triangle Institute (formerly RTI International) coordinates the Early Check sample data collection through Drs. Anne Wheeler and Elizabeth Reynolds, contributing to interview design and qualitative coding. The University of Washington (SeqFirst site, Dr. Yu and Dr. Doherty) ensures cross-study harmonization, manages institutional review board processes, and supports clinical interpretation and early intervention liaison activities. Collectively, these sub-awards deliver harmonized survey instruments, qualitative interview protocols, coded transcripts, analytical interpretation, and peer-reviewed manuscripts advancing understanding of genomic medicine integration into early childhood developmental services.

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.