A new technology can diagnose rare genetic disorders in critically ill newborns within a few days, rather than the weeks that are needed with current methods, researchers say.
The technology involves sequencing the infant's genome, and then using new software to hone in on the genes most likely to be disease culprits.
In a new study, researchers identified the genetic cause of a newborn's illness in three out of four babies tested. The whole process takes about 50 hours, they said.
The speed of the new test is what could make it useful for sick babies in neonatal intensive care units (NICUs), the researchers said. Currently, it can take weeks for doctors to diagnose a genetic disorder in an ill infant, and many babies die before their test results are available, said study researcher Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City.
A faster diagnosis for genetic conditions would allow doctors to provide earlier treatments if there are any or to give parents an earlier warning, and potentially more time together with their child, if the condition is untreatable and fatal, the researchers say.
Doctors already routinely screen newborns for a few genetic disorders that have effective treatments. But these tests look for single genes, rather than at the entire genome. There about 3,500 diseases known to be caused by mutations in a single gene, and 500 of these have some type of treatment available, Kingsmore said.
"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," Kingsmore said.
However, critics point out that the diseases identified by new technology are rare, and extra genetic information is not always helpful. In fact, some are worried the genetic testing could deliver more information than researchers know what to do with.
Diagnosing genetic diseases
To begin a diagnosis with the new technology, the researchers take a drop of the baby's blood so that his or her genome can be sequenced.
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Newborn Genetic Test Catches Rare Diseases Earlier
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