BabySeq2 Project: Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

The BabySeq2 Project builds on the template established in the first phase of the BabySeq Project to study the psychological impact, medical utility, and cost effectiveness of genome sequencing (GS) in healthy newborns. In the second phase, a diverse cohort of newborns are being enrolled to screen for genetic childhood disease risk. After the return of GS results (including pathogenic GS and copy number variation results), the impact on families and HCPs, as well as the medical and economic impact, are studied. Through this research we will develop, implement, and evaluate a sustainable approach to GS as screening that leverages underserved community engagement to minimize distrust and maximize benefit. This study provides a distinct opportunity to determine medical, behavioral, and economic outcomes in an under-represented population of infants at diverse sites, modeling the vision of GS as a part of healthcare implemented early in childhood.

Supported by: U01TR003201, National Center for Advancing Translational Sciences, NIH 

Project Team

• Amy McGuire, J.D., Ph.D.
• Stacey Pereira, Ph.D.