Newborn Screening by Whole Genome Sequencing Collaboratory

The Common Fund Venture Initiative, Newborn Screening by Whole Genome Sequencing (NBSxWGS) Collaboratory will unite several groups around a shared goal: enhancing early diagnosis of treatable genetic conditions in newborns. The groups will assess the feasibility of incorporating whole genome sequencing (WGS) into United States public health newborn screening (NBS) programs through a collaboration of multiple state public health laboratories (PHLs). This could pave the way in providing easier access to advanced genetic screening for hundreds of treatable diseases. This groundbreaking effort aims to keep pace with evolving therapeutic developments for rare childhood conditions, and to foster partnerships among diverse interest groups—academic institutions, sequencing centers, state public health laboratories, bioethicists, patient advocates, parents and caregivers of newborns, underserved communities, and the general public. The Collaboratory will implement a transparent informed consent process for parents and caregivers, and an ELSI study will examine public perceptions of WGS as part of NBS to ensure that the sequencing process and access to it are considered trustworthy. Lessons learned by members of the NBSxWGS Collaboratory are intended to enable early identification of infants at risk for serious genetic disorders—where timely intervention can make all the difference. 

Proposed structure of the NBSxWGS Collaboratory, illustrating the connection between the parents and newborn participants, state public health laboratories, the initiative functions, and supporting ELSI study.