Newborns in Kansas will be tested for a wide range of potentially deadly but treatable genetic disorders beginning July 1. Parents may not notice anything different, unless something turns up on their child's test. Babies already undergo a routine blood test -- through a heel prick -- for four diseases. Now the state will test for 29, including cystic fibrosis.
In Topeka on Tuesday, NFL Hall of Fame quarterback Jim Kelly and state officials touted the $56-per-child test as something that will save lives. The state will pay to test the estimated 40,000 babies born each year.
"Babies need newborn screening because some babies look healthy but have a treatable disease," said state Sen. Vicki Schmidt, R-Topeka, who helped develop the program.
"The more we sit back and let this go by us, the more these kids are going to suffer," said Kelly, who promotes newborn screening through Hunter's Hope Foundation, named after his son who died of Krabbe leukodystrophy, an inherited nervous system disease, in 2005.
About one in 400 infants will test positive for something on the list, but some of those will be false positives, said Michael Watson, executive director of the American College of Medical Genetics, which helped develop the list of disorders the test will gauge.
All of the conditions are treatable -- some simply with a change in diet. But some are so rare that not all doctors know about them.
Early testing, early treatment
The early testing helps eliminate a delay while physicians try to diagnose problems, said Watson, a medical geneticist.
"By the time they get to a diagnosis, these diseases could cause significant damage," he said.
Jennifer Ferguson of Wichita said a simple blood test at birth might save parents from some of the struggles she and her husband went through after their son Ashton's birth seven years ago. He was born prematurely because of an obstruction in his intestines and has cystic fibrosis.
"If the surgeon had not identified the problem, he might have gone undiagnosed for a very long time," she said.
Ferguson knew before daughter Lola, now 2, was born that she also has cystic fibrosis.
"I'm just excited that there are going to be many fewer parents struggling with what is wrong with their baby," she said. "I think this will help save a lot of stress for those parents, and for the physicians as well."
Ferguson pointed out that the expanded screening does not confirm a disease is present. In the case of cystic fibrosis, for example, a positive screening would be followed by a "sweat test" and then by a genetic blood test.
She serves on a parent committee that advises state officials about how the testing should be conducted and how families should be informed of positive results.
Addressing disparity
The American College of Medical Genetics developed the list of disorders because some states tested newborns for several dozen genetic conditions, while others -- including Kansas -- tested for only a handful, Watson said.
Kansas had been near the bottom among states in testing for genetic disorders. It has tested for four disorders: phenylketonuria, commonly called PKU; galactosemia; hypothyroidism; and sickle cell anemia.
The 2007 Legislature approved expanded testing and gave the Kansas Department of Health and Environment $800,000 this year to get the lab ready. Lawmakers budgeted $2.2 million for the program, including five new positions for testing and follow-up with parents.
Krabbe leukodystrophy is not on Kansas' expanded list, but it's included in 25 disorders officials hope to include once the program is established.
Kelly, who played football for the Buffalo Bills, said the state's expanded list is a big step forward.
Getting more babies tested for genetic disorders would be "my Super Bowl victory," he said.
Reach Jeannine Koranda at 785-296-3006 or jkoranda@wichitaeagle.com.
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