Neonatal Genomic Sequencing: The Past, the Present, and the Uncharted, Controversial Future

About this Class

This presentation will discuss the results of recently conducted large-scale, NIH-funded trials exploring the clinical utility, economic value, and diagnostic limitations of whole genomic sequencing at birth. Incorporating global efforts to expand access and broad-based use of this technology regardless of medical indication, we will tackle the multitude of ethical concerns regarding integration of this technology in early life. 

 Learning Objectives:

• Review results of recent genomic trials for critically ill and healthy neonates
• Identify the limitations to genomic testing in the newborn: Diagnostic yield and interpretation
• Weigh the ethical considerations regarding broad and targeted integration of genomic testing in all newborns