P600: Maximizing equity in newborn screening via reporting variants of uncertain significance (VUS)

The New York State (NYS) Newborn Screening (NBS) Program tests all infants born in NYS for more than 50 conditions. Gene sequencing is performed for 9 disorders on the NYS panel as a reflex to a positive biochemical screen. Pathogenic, likely pathogenic and variants of uncertain significance (VUS) are actionable and lead to referral for clinical evaluation and diagnostic testing. The goal of this study was to determine the proportion and characteristics of infants with confirmed conditions due to VUS identified via NBS in a diverse population.