New Test Could Rapidly Identify Genetic Diseases in Newborns

Published on

The earlier a rare or complex genetic disease is diagnosed in a patient, the earlier critical treatment can begin. This is especially important in critically ill infants who may need their diseases managed in very specific ways. Children’s Hospital of Philadelphia (CHOP) was one of several clinical sites to find that clinical whole-genome sequencing outperforms standard care in terms of properly diagnosing and determining a proper course of treatment for these very sick infants. The findings were recently published in the journal JAMA Pediatrics.

Ian Krantz, MD Ian Krantz, MD The study included 354 racially and ethnically diverse patients from across the country. Whether clinical genome-wide sequencing was performed with a turnaround time of 15 days or 60 days and observed for a total of 90 days. In both arms of the study, this method doubled the proportion of patients who received a precise diagnosis of their condition and a change in the way their care was managed.

"The clear and important link between establishing a diagnosis and improved care management lends much weight to the adoption of cWGS as a first-tier diagnostic test in critically-ill newborns," said study co-author Ian Krantz, MD, an attending physician in the Division of Genetics at CHOP and Director of the Roberts Individualized Medical Genetics Center, in a statement. 

Click here to read a news release about the findings. You can also learn more from coverage about the study on GenomeWeb.

Next Steps