Beginnings - Newborn Sequencing Initiative

The Beginnings Newborn Sequencing initiative is running the First Steps study, a program that uses whole genome sequencing (WGS) as a screening tool for newborns to identify genetic conditions before infants get sick. We plan to recruit at least 1,000 families in Greece to participate in Phase 1 of our pilot program. There are approximately 500 actionable genetic conditions affecting newborns that can be screened by WGS for which treatments or treatment candidates in clinical trials currently exist. The ultimate goal is for our initiative to become the genetic disease screening standard, with testing expanding to ~1,000 disorders and sequencing of all newborns.