In a little more than two days researchers say they can complete a DNA test with the new approach called STAT-Seq, according to a study published in Science Translational Medicine.
Researchers say STAT-Seq could help physicians attending babies in the neonatal intensive care units (NICU) to make quick decisions about how to go about treating a baby that has been diagnosed with a genetic disease.
Currently, whole genome analysis may be used to pinpoint the cause of disease, but this method is time-consuming and expensive.
“Up to one third of babies admitted to a NICU in the U.S. have genetic diseases. 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,” said Stephen Kingsmore, Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospitals.
The STAT-Seq uses software that translates the symptoms entered by the physician into a set of possible diseases. The method uses Illumina’s HiSeq 2500 system that sequences the infant’s whole genome in about 25 hours. In the present study, the researchers analyzed the genome of five children and found the likely gene that was responsible for the disease in four of them, reports Nature.
“By shortening the time-to-diagnosis, we may markedly reduce the number of other tests performed and reduce delays to a diagnosis. Reaching an accurate diagnosis quickly can help to shorten hospitalization and reduce costs and stress for families,” said Kingsmore.
As is the case with many genetic diseases, early intervention can save lives. “A lot of people are going to realize from this that the future is now,” said Richard Gibbs, director of the human genome sequencing center at Baylor College of Medicine in Houston, Texas, reports Nature.
Kingsmore estimated that the cost of genetic sequencing per baby would be about $13,500, as reported by Nature.