Medicine appears poised to begin sequencing the entire genetic scripts of newborn babies with serious illnesses, a revolutionary change that was set in motion three years ago when scientists and doctors in Wisconsin used a similar technique to diagnose and treat a young Monona boy with a mysterious illness.
In a study released today in the journal Science Translational Medicine, researchers at Children's Mercy Hospitals and Clinics in Kansas City report that they used whole genome sequencing to diagnose babies born with serious genetic illnesses. Of the seven cases in which doctors used genome sequencing, six resulted in diagnoses.
Moreover, researchers said a diagnosis can be returned as quickly as 50 hours after a blood sample is taken from a baby, an important finding given that many of the diseases that afflict infants require very rapid treatment. That's much faster than the four to six weeks it had taken previously to go from sequencing to diagnosis.
Doctors at the Kansas City hospital said the test and accompanying analysis costs about $13,500 for each child and could present an appealing cost savings to health insurers. In the United States, thousands of babies each year with serious unknown diseases end up in the neonatal intensive care unit; there, beds cost some $8,000 a night and total expenses for one child can easily run to $250,000 or more.
"We think this is going to transform the world of neonatology," said Stephen Kingsmore, an author of the new paper and director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics. Kingsmore said his hospital will be using sequencing routinely for seriously ill newborns by the end of the year and will perform the same service for other hospitals around the country.
At Children's Hospital of Wisconsin and the Medical College of Wisconsin, where a similar newborn sequencing program quietly began two months ago, one of the doctors involved, read the new paper and declared "this is a huge leap forward.
"This is going to revolutionize our ability to take care of kids," added David Dimmock, a pediatric genetics specialist who worked on the team that sequenced young Nic Volker, of Monona, and crafted the treatment that appears to have saved the boy's life.
"The aim of this is to replace conventional testing with something that is faster and more comprehensive."
While the sequencing of Nic's genes in 2009 was used as a last resort after many other tests had been tried, the technology is now assuming a far more significant role in medicine. The hospital in Kansas City and Children's in Wisconsin are now using sequencing as a "first-line test," one that will save time and money over the current practice in which doctors hunt through a forest of individual tests for different diseases and mutations.
In Kansas City, doctors are focusing their sequencing program on a search for known mutations in known genes. Dimmock said the Wisconsin program has the added ability to detect new mutations such as the one that caused Nic's devastating intestinal disease. However, the Kansas City hospital gets results back faster - two days as opposed to a little more than a week in Wisconsin. Both hospitals have created special software programs that help doctors sift through the 3 million to 4 million variations in the genetic script of an average baby in order to find those most likely to have caused a disease.
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Genetic sequencing gets faster, cheaper - and routine
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