Rapid, targeted genomic sequencing shows promise in quickly diagnosing critically ill infants for whom standard clinical work-ups were unsuccessful, according to Cleo C. van Diemen, PhD, of the University of Groningen (the Netherlands), and associates.
Over the course of 1 year, 23 critically ill infants younger than 12 months who had no clear diagnosis after standard clinical work-ups underwent rapid, targeted genomics, with 7 receiving a genetic diagnosis. The median turnaround time was 12 days, falling from roughly 3 weeks at the beginning of the study to a maximum of 8 days by the end of the study.
Compound heterozygous mutations in the EPG5, RMND1, and EIF2B5 genes allowed for diagnoses of Vici syndrome, combined oxidative phosphorylation deficiency-11, and vanishing white matter, respectively. Homozygous mutations in the KLHL41, GFER, and GLB1 genes allowed for diagnoses of nemaline myopathy, progressive mitochondrial myopathy, and GM1-gangliosidosis, respectively. In addition, a 1p36.33p36.32 microdeletion was discovered in an infant with cardiomyopathy.
“The clinical relevance of rapid genome diagnostics lies in the fact that these results can be used in the clinical decisions made in caring for critically ill children in ICUs, in better genetic counseling of the parents, and in guiding their future reproductive choices,” the investigators noted.
Find the full study in Pediatrics ().