Skip to main content
Premium Trial:

Request an Annual Quote

Rapid NICU Sequencing

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."

The Scan

CDC Calls Delta "Variant of Concern"

CNN reports the US Centers for Disease Control and Prevention now considers the Delta variant of SARS-CoV-2 to be a "variant of concern."

From FDA to Venture Capital

Former FDA Commissioner Stephen Hahn is taking a position at a venture capital firm, leading some ethicists to raise eyebrows, according to the Washington Post.

Consent Questions

Nature News writes that there are questions whether informed consent was obtained for some submissions to a database of Y-chromosome profiles.

Cell Studies on Multimodal Single-Cell Analysis, Coronaviruses in Bats, Urban Microbiomes

In Cell this week: approach to analyze multimodal single-cell genomic data, analysis of bat coronaviruses, and more.