Identifying Disease Risk Through Newborn Genomic Sequencing

Description

Dr. Shah and Ms. Genetti will discuss their paper, Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. The presentation will focus on the 3-5 year medical outcomes and actionability of unanticipated monogenic risks identified in newborns and their family members as part of a randomized controlled trial of newborn genomic sequencing.

Overview of Presentation

• From a randomized controlled clinical trial of comprehensive exome sequencing in 127 apparently healthy infants and 32 infants in intensive care, 17 infants (10.7%) were identified with unanticipated monogenic disease risks (uMDRs).  
• All 17 uMDR findings were scored as moderately or highly actionable (mean 9, range: 7–11 on a 0–12 scale) and several distinctive visual patterns emerged on the radar plots.  
• The uMDRs revealed unsuspected genetic etiologies for existing phenotypes, as well as provided risk stratification for future medical surveillance. They also prompted screening for at-risk family members, three of whom underwent cancer-risk-reducing surgeries. 
• These findings suggest that large-scale comprehensive sequencing of newborns will reveal numerous actionable uMDRs and precipitate substantial, and in some cases lifesaving, downstream medical care in newborns and their family members.