TY - JOUR T1 - Genomic intensive care: should we perform genome testing in critically ill newborns? JF - Archives of Disease in Childhood - Fetal and Neonatal Edition JO - Arch Dis Child Fetal Neonatal Ed SP - F94 LP - F98 DO - 10.1136/archdischild-2015-308568 VL - 101 IS - 2 AU - Dominic JC Wilkinson AU - Christopher Barnett AU - Julian Savulescu AU - Ainsley J Newson Y1 - 2016/03/01 UR - http://fn.bmj.com/content/101/2/F94.abstract N2 - 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.2A 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 treatment4 (box 1). Box 1 Genomic testing and ethical dilemmas: hypothetical case studiesA term newborn infant is born in poor condition in the setting of meconium-stained liquor and variable decelerations. The infant requires resuscitation, including intubation and is transferred to the neonatal intensive care unit. The infant has early evidence of encephalopathy with refractory seizures. Should the infant have rapid whole genome or exome sequencing to look for a possible underlying inborn error of metabolism or epileptic encephalopathy?4A newborn infant is born extremely preterm at 24 weeks’ gestation. At 1 week of age, the infant remains critically unwell, and has developed evidence of sepsis and necrotising enterocolitis. Chromosomal microarray testing had been performed on cord blood, and now reveals a microdeletion that has been associated with an increased risk of autism and schizophrenia. Should this information be revealed to the infant's parents? Should it be used in decision-making about continuation of … ER -