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

Abstract

In newborn intensive care units (NICUs), the science and art of prognostication often have life and death implications. Approximately 5% of infants admitted to NICU die.1 The majority of deaths are preceded by decisions to withdraw or withhold life-sustaining treatment,1 following discussions between the family and clinical team. These decisions are based on an assessment of an infant's chance of survival and on the predicted duration and nature of the infant's survival if treatment is provided.2

A variety of clinical, biochemical, genetic and radiological tests have traditionally been employed to estimate prognosis in the NICU. While chromosomal microarray is now commonly used for critically ill neonates with congenital malformations, new forms of genetic and genomic testing3 have started to become available in intensive care.4 They could aid critical care decision-making by predicting functional outcome, important comorbidities5 or poor prognosis despite treatment.