A new method of genetic testing appears to be able to help doctors diagnose critically ill babies more quickly than ever before, according to a new study.
The method allows doctors for decode a baby's entire genome in two days -- breathtakingly fast compared to current methods that can take six weeks or more.
In the new study, the researchers report using the approach to decode the entire genomes of six acutely ill newborns admitted to neonatal intensive care units, two of whom had already been determined to have genetic diseases. What they found in this proof of concept, they said, could be used in the future to more quickly diagnose sick newborns and treat them early.
The study was published Wednesday in the journal Science Translational Medicine.
"We think that we have come up with a solution for the tragic families who have a baby who's born and the doctors are not sure of what the cause of the baby's illness is," said the study's senior author, Dr. Stephen F. Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics in Kansas City, Mo.
Many of the 3,500 known genetic diseases cause medical problems during the first month of life, the researchers wrote in their study. In the United States, over 20 percent of infant deaths are caused by genetic disorders and birth defects.
"Up to one third of babies admitted to a neonatal intensive care unit in the United States have genetic diseases," Kingsmore said, adding that babies with genetic problems often die or are sent home before a diagnosis is made.
For families coping with the tragedy of a sick newborn, the test may make a big difference.
"The family doesn't know what's going on," Kingsmore said. "The doctors are working heroically to figure out what's wrong. That can go on for weeks."
Armed with an early genetic diagnosis, Kingsmore said that doctors can communicate more clearly with the family.
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New, Faster Genetic Screen May Help Sick Babies
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