Gene Selection for Newborn Sequencing Studies

PROJECT NARRATIVE To add genomic sequencing into public health newborn screening (NBS) in a way that maximizes benefits (e.g., access to life-saving treatments) and minimizes harm (e.g., treating healthy babies unnecessarily), NBS needs a way to determine for which genes babies should be screened. This project will use the experience of newborn sequencing researchers in combination with the public, parents, patients, and health professionals to identify gene selection criteria to guide ethical and appropriate decision-making on how to select genes to screen. The resulting gene selection criteria will reflect diverse perspectives and provide NBS with much needed guidance.