Newborns are routinely screened at birth for a variety of diseases, but tests results can sometimes take up to two weeks. For some conditions that are quickly treatable time isn’t as critical, but 10 to 14 days for other test results might mean the difference between life and death.
And there are thousand of genetic diseases that newborns are not tested for, that if known about early, could help doctors provide quicker and better care.
Something amazing is happening in genetic DNA mapping that could change newborn testing forever.
Scientists have found a way to decode babies' DNA in just days instead of weeks.
In a small but significant study, researchers at Children’s Mercy Hospital in Kansas City, Missouri mapped the DNA of five children. While the study couldn’t be completed in time to save the children, the results were very promising.
By year’s end the hospital plans to begin routine gene mapping in its neonatal intensive care unit. It may also offer testing for babies elsewhere, while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.
"For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.
Even if the diagnosis is a lethal disease, "the family will at least have an answer. They won't have false hope," he added.
The idea is to combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.
More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. There are thousands of these diseases, and most hospitals don’t have the means to test for all of them. Once a baby shows symptoms though, fast diagnosis becomes crucial.
Sequencing whole genomes — all of a person's DNA — can help when it's not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.
Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours; half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.
The study did not factor in the time that it took to ship the blood to Essex, England, where a new and faster DNA decoding machine is, or the time to relay the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time. The study’s results only counted the time it took for the blood to be decoded or analyzed.
But, specialists not involved in the study say the long-promised usefulness of gene mapping to real-world medicine is finally close at hand.
"Genomic sequencing like this is very practical and very real now," said Dr. Arthur Beaudet of the Baylor College of Medicine, which also is working to expand genomic testing in children. "Fast forward a year, and I think this kind of thing will probably be pretty routine."
The speedy test is currently very expensive at $13,500, and more study is needed before insurers will cover it. But these costs are minimum compared to the $8,000 a day it takes to cover keeping a newborn in an intensive care unit.
Among the babies tested was a newborn with his organs on the wrong side of his body and needing emergency heart surgery. His parents had been told that it was a fluke that his older brother was born the same way, but the new test found an inherited genetic culprit that Kingsmore said will help doctors predict both boys' future treatment needs.
Three other newborns in the study died and the new test uncovered the cause of death for two of them. Kingsmore said that allowed researchers to tell parents that nothing they did during pregnancy was to blame, and to counsel them about the risks of future pregnancies.
Since the original study concluded, the team has performed rapid gene mapping with additional families. It uncovered the cause of a mother's two stillbirths, allowing for assisted reproduction to help her next pregnancy be healthy, said Children's Mercy laboratory director Dr. Carol Saunders.
Another study of genetic diagnosis, also published Wednesday, shows that analyzing more than 21,000 genes can often find the cause of unexplained cases of severe mental disability.
Researchers reported in the New England Journal of Medicine that in 16 of 100 patients, they were able to identify genetic mutations that caused the condition. The mutations were not inherited from parents, but rather occurred spontaneously in the egg or sperm.
Joris Veltman, a study author from the Radboud University Nijmegen Medical Center in Nijmegen, the Netherlands, said such an analysis could help families understand the cause and prognosis of the disease. Finding a non-inherited mutation "tells the parents that this was just bad luck, and tells the mother that she is not to blame for this, nothing went wrong during the pregnancy," he wrote in an email to the Associated Press. It also reveals that the chance of the same mutation affecting a future child would be very low, he said.
Valuable information like that might ease of the minds of parents already dealing with terrible grief.