Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University

Autism is most often diagnosed after the age of 3, despite evidence that neurodevelopmental differences emerge within the first 2 years of life and that genetic and familial risk can be identified at birth. Established in September 2022 (anticipated duration of 5–7 years), the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center is an ongoing longitudinal cohort study designed to characterize early developmental trajectories associated with autism and evaluate the impact of providing genetic information to families. Infants who undergo genomic newborn screening and enroll in PROGRESS are followed from 3 to 24 months of age and categorized into three groups: identified genetic probability (IGP), familial likelihood without identified genetic probability (Baby Siblings), and no identified genetic probability (NGP). Assessments include electroencephalography, electrocardiography, auditory, eye tracking, developmental testing, caregiver-infant interaction, and caregiver-reported measures. Autism screening is conducted at 18 months, with comprehensive diagnostic evaluation at 24 months. Caregiver psychosocial experiences of receiving early genetic information are assessed through surveys and interviews. By integrating genomic probability with early neurobehavioral development and family experiences, PROGRESS provides a framework to inform ethical genomic screening, developmental monitoring, and timely access to early intervention supported by a family navigator.