New Test Could Rapidly Identify Genetic Diseases in Newborns

By Ian Krantz, MD, Director, Roberts Individualized Medical Genetics Center, and Study Co-author

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.

A study recently published in JAMA Pediatrics shows that use of clinical whole-genome sequencing (cWGS) outperforms standard care by two-fold, both in terms of properly diagnosing and determining proper course of treatment of acutely ill newborns suspected of having a genetic condition.

The study included 354 racially and ethnically diverse, acutely ill patients from across the country. Clinical genome-wide sequencing was performed with a turnaround time of either 15 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 study shows that whole-genome sequencing for infants with a suspected genetic disease is practical and superior to current diverse usual care practices. It brings us one step closer to a precise diagnosis for every child. 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.

NICUSeq Study Group; Ian D. Krantz, et al. Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: A randomized clinical trial. JAMA Pediatr. 2021;175(12):1218-1226.