Researchers led by Stephen Kingsmore from Children's Mercy Hospital in Kansas City, Mo., argue in Science Translational Medicine that the neonatal intensive care unit is a suitable spot to adopt genomic medicine. "For neonatal genetic diseases without effective therapeutic interventions, of which there are many, timely diagnosis avoids futile intensive care and is critical for research to develop management guidelines that optimize outcomes," the researchers write. "In addition to influencing treatment, neonatal diagnosis of genetic disorders and genetic counseling can spare parents diagnostic odysseys that instill inappropriate hope or perpetuate needless guilt."
Kingsmore and his team then present a system that turns around whole-genome sequencing and bioinformatic analysis in about 50 hours, a timeframe they say is more practical for clinical use. They system combines Illumina HiSeq 2500 sequencing with Children's Mercy Hospital's automated analysis pipeline.
The researchers applied this approach to two retrospective cases and five prospective cases, correctly identified the retrospective cases' diagnoses and providing new diagnoses to four of the five prospective cases. Our sister publication GenomeWeb Daily News has more on this study here.
Just having a diagnosis can bring peace of mind to parents, adds Gina Kolata at The New York Times. "Providing a definitive diagnosis somehow brings closure," Kingsmore tells her. "It is something they can name."