Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders.
Abigail S CareyJohn P SchachtChristine UmandapDavid FaselChunhua WengJoshua CappellWendy K ChungSteven G KerniePublished in: Pediatric research (2020)
Ten prospectively enrolled PICU patients with defined clinical criteria and their parents underwent rapid exome sequencing. Fifty percent received a genetic diagnosis, and medical management was affected for 60% of those patients. Median hospital LOS was significantly decreased in this selective subset of PICU patients. Genetic disorders and congenital anomalies are a leading cause of pediatric mortality. Genomic assessment previously took weeks to months for results and was therefore unable to acutely impact clinical care in the pediatric intensive care unit (PICU). The recent advent of rapid exome sequencing changes this in selected patients. Rapid exome sequencing is feasible to do in a PICU. Genetic results can be returned quickly enough to impact critical care decision-making. When done in a carefully selected subset of pediatric patients, rapid exome sequencing can potentially decrease hospital LOS.
Keyphrases
- end stage renal disease
- copy number
- intensive care unit
- healthcare
- newly diagnosed
- ejection fraction
- chronic kidney disease
- prognostic factors
- single cell
- peritoneal dialysis
- cardiovascular disease
- type diabetes
- emergency department
- patient reported outcomes
- gene expression
- decision making
- young adults
- loop mediated isothermal amplification
- cardiovascular events
- brain injury
- mechanical ventilation
- electronic health record
- preterm birth
- gestational age
- acute respiratory distress syndrome