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.
"Families know what's going on. It's not a mystery," he said. "When there isn't a treatment, we know the prognosis… Parents are empowered to make decisions."
Genetic experts not involved with the research said the results look promising.
"Prior to this study, whole genome sequencing did not offer the turnaround time required for many of the rapidly advancing conditions addressed in the neonatal intensive care unit," said Joel T. Dudley, assistant professor of genetics and genomic sciences at the Mount Sinai School of Medicine based in New York City.
"Even if whole genome sequencing is able to identify a likely genetic culprit, the finding may not offer any improved options for care and the child may still die or be disabled," Dudley said. "Knowing the likely genetic cause of a child's death can still be valuable and comforting information for a family."
Kingsmore said he and his colleagues were able to speed up the decoding process by using new software to identify the cause of a disease. "In some babies, it does give a diagnosis and does it in a timeframe that allows doctors to react appropriately."
Four of the infants in this study died from their genetic conditions. "Had we known that information in real-time, we could have avoided futile efforts," he said. "If the case is hopeless, doctors know they don't need to do testing. Some of those tests can cause suffering to the baby."
Such knowledge can also help families deal with the loss of a baby to an incurable condition. Kingsmore said the test may allow families to grieve and move the baby out of the intensive care unit so the mom can bond with her baby, or give a definitive answer at a time when a family may be wracked with guilt. With a genetic diagnosis, he said, doctors can let parents know a condition was due to a mutation, and not because of something a parent did.
With this technology, the cost to decode an entire human genome -- which consists of 30,000 genes -- was around $13,500. To put this in perspective, it cost a hefty $2.7 billion to decode the first entire human genome and the process took 13 years, according to the National Human Genome Research Institute website.
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