Jonathan Berg, MD, PhD (Distinguished Professor) and Laura Milko, PhD (Assistant Professor) received a new R01 grant from the National Human Genome Research Institute (NHGRI) for their proposal titled “Age-based genomic screening in newborns, infants and children: a novel paradigm in public health genomics”.
This study explores an innovative age-based genomic screening (ABGS) paradigm that aims to provide targeted and highly actionable genetic information to parents via their child’s routine wellness visits, thereby avoiding some of the more difficult aspects of genome-scale sequencing while retaining most of the benefits. They will utilize an established metric that evaluates parameters relevant to “clinical actionability” and defines the age of onset and/or the age of intervention, to identify conditions that would be applicable for screening. In collaboration with a diverse Expert Deliberative Group, they will define a consensus framework for carrying out the ABGS program using targeted sequencing panels at specified time-points during infancy and childhood.