Rapid Exome Sequencing of Critically Ill Neonates

Our recent study found that phenotype-based patient selection is effective at identifying critically ill neonates with a high likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing. This strategy can lead to faster and more accurate diagnoses, the reduction of unnecessary testing and procedures, and better inform medical care decisions. Read more in our Genetics in Medicine paper.

Thank you to our collaborators in the Manton Center for Orphan Disease Research, the Boston Children’s Hospital Department of Genetics and Genomics, and the Departments of Pediatrics at the Brigham and Massachusetts General Hospital. Additionally, this study would not have been possible without the extremely fast turnaround time in result reporting from GeneDx. Special congratulations to the first author, Cynthia.