Researchers at Children’s Mercy Hospital have developed new technology that makes it possible to sequence and analyze the entire genome of critically ill newborns to diagnose genetic disorders in as little as 50 hours. Existing technology takes six weeks or longer.
The researchers say such rapid diagnoses will allow doctors to start treatment early, when it may be more effective, or stop painful and futile tests and treatments sooner by making it clear that a baby’s condition offers no hope of survival.
In the past, the doctors, called neonatologists, who treat newborns had to “practice medicine blindfolded,” said Stephen Kingsmore, director of the Center for Genomic Medicine at Children’s Mercy. “We think this is going to transform the world of neonatology.”
About 3,500 diseases have been linked to specific genes, the sets of code contained in each cell that control how we look and how our bodies function. In the United States, more than 20 percent of infant deaths are caused by genetic conditions.
More than 500 genetic diseases are treatable. But sorting through millions of variations in a baby’s genes to come up with a diagnosis has been a time-consuming process.
The idea behind the test is to take advantage of what is known about disease symptoms to narrow the search for genetic aberrations. And that, said Dr. Joe Gray, an expert in genome analysis at Oregon Health and Science University, “is a good step in the right direction.”
“It’s a big genome,” said Gray, who was not involved with the study. “How do you know what part of it to search?”
While more research needs to be done before the test is ready for widespread use, he applauded the effort. “If people don’t push the envelope like this, then we won’t get there,” Gray said.
The new technology at Children’s Mercy combines a database of nearly 600 genetic diseases with a new high-speed gene sequencer developed by a British firm to make a quick diagnosis. Using a blood sample, the sequencer “reads” the DNA code of the baby’s genes, its genome, and translates it into computer data.
Doctors enter the baby’s symptoms into a computer programmed to match them against possible diseases that could be linked to the baby’s genes. Genetic specialists use a list supplied by the computer of possible diseases to make the final diagnosis.
Kingsmore and other researchers at Children’s Mercy tested their technology successfully by using it to identify the genetic diseases of children who already had confirmed diagnoses.
In a study published today in Science Translational Medicine, the Children’s Mercy researchers also report on seven new cases using the technology at the hospital.
Kingsmore said the hospital may start using the test routinely by the end of the year and start offering it to other hospitals in 2013.
“We’ve won over the neonatologists,” he said.
The method is expensive, though, costing about $13,500. It is not yet covered by insurance.
But Kingsmore expects to show it is cost effective and hopes insurers will pay for it. He noted that each day a baby spends in intensive care costs about $8,000, so any test that reduces that time would quickly pay for itself. A test that reveals a uniformly fatal genetic disease, for example, can allow parents and doctors to know that continuing life support in the hope the baby will improve is futile and only causing suffering. In the meantime, he said, he is hoping a philanthropist will help defray the costs.
When a baby has a mysterious disease, Kingsmore said, the family often embarks on a terrifying diagnostic odyssey. “Test after test is performed,” he said. “Some tests are invasive; the child is suffering. The child is getting worse and worse — most spend their entire lives in the hospital and there is no answer.”
Just knowing the answer can be a comfort. “Providing a definitive diagnosis somehow brings closure,” Kingsmore said. “It is something they can name.”
Contributing: New York Times