Neonatal Genomics: Part 2—Applications

Abstract

The next-generation sequencing techniques described in Part 1 of this review can be used to sequence single genes, panels of genes, whole exomes, or whole genomes. These tests can be used for both diagnostic and screening purposes in the newborn nursery and NICU. As the cost and turnaround time for genetic testing decrease, the use of sequencing data will become more prevalent and can influence the diagnostic evaluation and care of the newborn. The use of genomic data for newborn screening is more controversial but also has potential usefulness in expanding the capabilities of current, predominantly analyte-based newborn screening algorithms. The incorporation of genomic information into the care of well newborns and ill NICU patients raises important ethical concerns that will need to be addressed as whole exome and whole genome sequencing become more routinely performed.