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. Project Number: 1R01HG014062-01A1 | Fiscal Year: 2025 | NIH Institute/Center: National Human Genome Research Institute (NHGRI) | Principal Investigator: Kate MacDuffie | Institution: SEATTLE CHILDREN'S HOSPITAL, SEATTLE, WA | Award Amount: $3,268,197 | Activity Code: R01 | Study Section: Special Emphasis Panel[ZRG1 SEIR-B (80)] View on NIH RePORTER: https://reporter.nih.gov/project-details/11232820