Birth defects and other genetic disorders need to be identified early and easily, without much delay so as to determine the treatment and success of it.
In U.S., three percent of children are affected by genetic disorders and about 15 percent require intensive care. Though treatments are available for more than 500 genetic diseases, in many of them, like infantile Pompe disease and Krabb disease, identifying the condition early is important to avoid the adverse effects of the disorders and disabilities.
To facilitate this, scientists at Children's Mercy Hospital have developed a new whole genome sequencing technology, STAT-seq that can test genetic disorders of infants within 50 hours. The new device comes at a time when testing of even a single genome consumes more than six weeks time.
"Up to one third of babies admitted to a NICU in the U.S. have genetic diseases," said Stephen Kingsmore, Director of the Center for Pediatric Genomic Medicine at Children's Mercy, in a statement. "By obtaining an interpreted genome in about two days, physicians can make practical use of diagnostic results to tailor treatments to individual infants and children."
Scientists proved the effectiveness of the device by identifying some of the 3,500 genetic disorders in critically ill infants admitted to the Mercy Hospital's neonatal intensive care unit (NICU).
The device transforms the clinical features of individual patients entered by the physicians, automate identification of DNA variations and helps in accurate diagnosis of the condition.
"By shortening the time-to-diagnosis, we may markedly reduce the number of other tests performed and reduce delays to a diagnosis," Kingsmore said. "Reaching an accurate diagnosis quickly can help to shorten hospitalization and reduce costs and stress for families."
Findings have been reported in Science Translational Medicine.
