Genomic intensive care: should we perform genome testing in critically ill newborns?

[...]multiple gene sequencing panels using next-generation sequencing (NGS) techniques, whole exome sequencing (WES; sequencing of the coding/exonic regions of the genome) and whole genome sequencing (WGS) have become increasingly available in the clinical setting. 3 6 These newer methods differ in both the potential depth and breadth of analysis and information obtained. [...]recently, WES and WGS have largely been used in research. In one recent series, WGS with targeted analysis was completed in as little as 50 h, yielding a genetic diagnosis in 20 out of 35 infants thought to have a likely monogenic disorder tested prospectively. 8 The authors described a newborn infant with refractory seizures, from whom life support was withdrawn after 5 weeks of intensive care and multiple investigations and trials of therapy.