At the inaugural International Conference on Newborn Sequencing, researchers from eight studies across the world outlined their plans, goals, and results to date for their newborn sequencing initiatives.
The BabySeq Project led by Robert Green at Brigham and Women’s Hospital, the Broad Institute and Harvard Medical School was the first randomized clinical trial designed to measure the medical, behavioral and economic outcomes of using comprehensive genomic sequencing in newborns. The first phase of this project revealed unanticipated monogenic disease risks in 11% of apparently healthy newborn babies. BabySeq is currently enrolling 1,000 families from diverse populations and using whole genome sequencing to assess clinical utility and cost effectiveness.
