The second phase of the BabySeq Project, funded again by the NIH, is examining the use of whole genome sequencing to screen a diverse cohort of newborns for genetic childhood disease risk. BabySeq follows the pediatricians’ incorporation of genetic information into newborns’ medical care. This time focusing on a cohort that is representative of the general population, BabySeq aims to collect the data needed to examine what the risks and benefits of newborn genome sequencing might be as we imagine implementing it into everyday care.
The PopSeq project is the first ever study to return genomic results (gRoR) in an all African American population cohort and a primarily European American cohort, including participants enrolled in the Jackson and Framingham Heart studies. The goal of this project is to study important gRoR outcomes and how they compare between participants in these two cohorts. Our gRoR design will serve as a resource for other population cohort studies and biobanks planning to return genomic results to their study participants. This study will also inform future efforts to scale the labor-intensive process of variant classification and will explore penetrance among populations unselected for family history.
The Personal Genome Sequencing Outcomes (PeopleSeq) Consortium, funded by the NIH, is one of the first large-scale longitudinal studies to examine the experiences, attitudes and outcomes of apparently healthy adults who have elected to obtain exome or genome sequencing. Data collected will provide valuable information on the potential benefits and costs of performing sequencing in healthy individuals, and key insights into the feasibility of using sequencing to create a more personalized and preventative model of medicine.