Many babies requiring critical care have genetic diseases that can progress rapidly, and the sooner doctors can diagnose them, the sooner the infants get the treatment they need, which can often be life-saving. Currently it takes weeks to test just one gene, but US researchers reporting in Science Translational Medicine this week describe how they have developed a prototype whole genome sequencing test that only takes 50 hours from blood sample in the neonatal intensive care unit (NICU) to doctors seeing the results.
Corresponding author Stephen Kingsmore, Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital in Kansas City in the US, says in a press statement:
“Up to one third of babies admitted to a NICU in the US have genetic diseases.”
There are at least 3,500 known genetic diseases caused by mutations in DNA, and treatments are available for more than 500 of them. In about 70 of these, such as infantile Pompe disease and Krabbe disease, starting treatment as early as possible in newborns can help prevent disabilities and life-threatening illnesses.
In their paper, Kingsmore and colleagues report how they used a whole genome sequencing (WGS) program they developed themselves called STAT-Seq, in conjunction with Illumina’s HiSeq 2500 sequencing machine, to cast a broad net over the 3,500 or so known genetic diseases and achieve results in time for doctors to make clinical decisions.
“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,” says Kingsmore.
Currently it takes about a month to get these kinds of results.
Kingsmore and colleagues have cut down the time by developing statistical software that matches up doctors’ unique descriptions of the patient’s condition and symptoms…
Read more: Catharine Paddock PhD, Medical News Today