This article discusses the use of whole genome sequencing to help asses and improve the speed of genomic diagnostics for critically ill newborns, with the hope of reducing any long, in-conclusive testing for the clinical care needed for the child. The research took place at the University Medical Center Groningen, Netherlands.
Gene diagnostics is a very time-consuming process, and not all symptoms or features of genetic syndromes are present at a child’s birth, so to limit the rate of suffering, disease, and death, whole genome sequencing was introduced as possible solution. The sequence simultaneously tests for the presence of mutations for all known gene diseases and chromosomal variants. With the rapid genomic testing, results can be concluded in a span of 12 days compared to 6 months. As a result of this, researchers were able to diagnosis 30% of the critically ill newborns. As testing grows more popular, researchers will add more of a variety of patients in their study, analyzing their full genomes.