Neonatal Intensive Care Units Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in

and affordable methods of analysis. and cost of WGS continues to rise and fall, respectively. However, fast WGS is clinically useful when coupled with fast quicken to move toward targeted treatment and genetic and prognostic counseling. The authors note that the speed prospective cases. These findings strengthen the notion that WGS can shorten the differential diagnosis process and abdominal cavities. WGS of parents or affected siblings helped to speed up the identification of disease genes in the the abnormal arrangement of organs in the chest and −− recessive gene (HTX6) that gives rise to visceral heterotaxy ruled out the presence of defects in candidate genes in a third infants; and, in a pedigree, pinpointed BCL9L as a new BRAT1-related syndrome in one newborn; identified the causative mutation in a baby with epidermolysis bullosa; diagnoses that had been made using other methods. Next, prospective WGS revealed a molecular diagnosis of a developed protocol, the authors performed retrospective 50-hour WGS to confirm, in two children, known molecular The new WGS protocol cuts analysis time by using automated bioinformatic analysis. Using their newly diagnosis is made. symptoms, which can be unhelpful or dangerous. Often, either death or release from the hospital occurs before the Together, these complicating factors lead to the administration of treatments based on nonspecific or obscure designed to unearth only a few genetic disorders, and serial gene sequencing is too slow to be clinically useful. clinical symptoms might not be evident in newborns. Genetic screens performed on newborns are rapid, but are Many of the ~3,500 genetic diseases of known cause manifest symptoms during the first 28 days of life, but full achieve a differential diagnosis of genetic disorders in 50 hours rather than the 4 to 6 weeks. . describe a method that uses whole-genome sequencing (WGS) to et al counseling are delayed. Now, Saunders and all the while, treatment and −− diagnosis, parents anguish, nurture false hope, wrestle with feelings of guilt (NICUs), but it can be destructive nonetheless. While they wait on pins and needles for their newborn baby's The waiting might not be the hardest part for families receiving a diagnosis in neonatal intensive care units Speed Heals