Category: sequencing

What is the Value of Rapid Genomic Sequencing in Acute Infant Care?

sequencing with a double helix and a baby in the hospital

Rapid genomic sequencing includes both rapid genome sequencing (rGS) and rapid exome sequencing (rES). Proponents argue that next generation sequencing (NGS) in acutely ill infants can deliver timely diagnostic results and enable life-changing clinical interventions. An international group of experts recently published a white paper in Genetics in Medicine that made the following assertions: Demonstration Read More >

Posted on by Scott Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention1 CommentTags ,

Genome Sequencing in the Clinic – The question is not whether the glass is half-full or half-empty but whether or not the glass is the right tool.

two half full glasses of water - one with DNA inside it and one with DNA next to it

Earlier this fall, the Blue Cross Blue Shield Technology Evaluation Center produced a report evaluating the clinical use of exome sequencing in the diagnosis of rare diseases. That this report was even generated is remarkable, as it marks an appreciable level of penetration by exome sequencing into clinical care. A decade ago, sequencing and interpreting even Read More >

Posted on by W. Gregory Feero, MD, PhD, Maine Dartmouth Family Medicine ResidencyTags , , ,