Newborn tests early indicator of certain disorders

Unlike a lot of first-time mothers, Tiffany Riner knew why her newborn daughter, Aubrey, came back to the hospital nursery with a Band-Aid wrapped around her tiny heel.                          “I learned in nursing school they’d run some blood tests on her when she was born,” said Riner, a Killen resident. “Other than that, I didn’t think much about it.”She and her husband, Tommy, didn’t question the tests; they were grateful that the screenings were available to check for a number of disorders early on in their baby’s life.That Band-Aid covered the needle stick all newborn babies born in Alabama receive in the first 24 to 48 hours of life.The testing can determine the presence of more than two dozen genetic or metabolic diseases and give doctors a head start on treating them.Called newborn screening, the program dates to 1962 when Dr. Robert Guthrie developed a test for phenylketonuria, which is more commonly known as PKU. The disease results in the inability of the body to break down amino acid phenylalanine, a common protein found in food. Left unchecked, it can cause mental retardation, poor growth rate and seizures.Guthrie’s breakthrough had the potential to not only save lives but also to save the health care system millions of dollars by getting children treatment early on in their lives, according to Brad Therrell, director of the National Newborn Screening and Genetics Resource Center in Austin, Texas.”Initially, this was a prevention program for children with a mental illness who could end up as wards of the state for several years or even for their lifetimes,” he said.By the 1970s, however, when the majority of the 50 states had begun screening for PKU, researchers realized the screening process could be effective in finding multiple disorders, Therrell said. Now, 29 diseases are part of the mandatory initial screenings, and an additional 20 to 30 are part of the secondary screening process.In addition to PKU, the tests can reveal myriad conditions, including congenital hypothyroidism, cystic fibrosis and maple syrup urine disorder.Most states also have instituted a hearing screening for newborns that, like the needle sticks, takes place before the baby is released from the hospital.Despite the mandatory nature of the tests, Therrell said it’s left up to the states to fund their screening programs. In the vast majority of cases, Medicaid and private insurance companies, such as Blue Cross Blue Shield, pick up the tab.Bob Hinds, director of the newborn screening program in the state, which is headquartered in Montgomery at the Alabama Department of Public Health, said the cost in Alabama is about $2 million annually.”Based on a federal government study, the cost per 100,000 infants screened is $1.7 million, and that might seem like a lot,” he said. “But the total cost for those who aren’t screened is $4.9 million per 100,000 newborns. The net savings is $3.2 million, and that’s just with 100,000 babies born.”Although around 67,000 babies are born each year in Alabama, Hinds said the state lab handles approximately 150,000 tests.”The first test is done in the first 24 to 48 hours of life, and then we recommend getting the second test at between two and six weeks of life,” he said. “We also get a lot of false positives depending on when we do the test, so there are some tests that have to be redone.”Of the tests that are run statewide each year, Hinds said 150 come back as positive for one of the conditions tested. Between 50 and 60 of that number are for infants who have failed the hearing test.”But just because a test comes back positive, doesn’t mean a baby has one of these disorders. It does mean additional testing should be done,” he said. “So many of these are sneaky disorders and won’t show any outward signs until several months down the road. If we don’t get to them early enough, we can’t have as big an effect on making the (children’s) lives better. There’s no guarantee that even though we find the disorder early we can cure it, but, if we do, we can often make things lots better and can often cure them.”Hinds said families are often referred to the University of Alabama at Birmingham or the University of South Alabama for additional screenings.On the local level, Dr. Karen Landers, who is the health officer for a six-county region that includes Colbert and Lauderdale counties, sees the diagnoses of the disorders in newborns first-hand.In 2008, for instance, three babies in her area were diagnosed with a disorder.”I saw three children that either did benefit or could have benefited from these screenings,” Landers said, adding that one of the babies was born in an area that does not do newborn screenings. “In my small practice, the number isn’t huge, but I do feel like we were able to help all three.”Landers got her start in medicine as a pediatrician, and in the 32 years she’s been in practice, she’s seen the implementation of the newborn screening process and its subsequent growth in Alabama.Like Hinds, she agrees that the program offers a lot of bang for the buck and with it comes the early detection of these disorders.But there are critics of the programs who say that the blood that’s collected becomes part of a governmental database, a theory that’s begun catching on in parts of the Midwest, including Minnesota and Wisconsin. As a result, some parents have opted out of the screenings.”I know there’s a theory out there that Uncle Sam is watching with his big eye and that sort of thing, but I can honestly say this is all for the good for babies,” Hinds said. “We certainly can’t force (parents) to have their babies tested. The only way a parent can refuse legally is on religious grounds, and they have to sign a form to do that.”He said only a handful of parents have opted out of the program statewide in his three years in the department, and Landers said it’s something she has not experienced yet.In the meantime, the screenings process continues to change.Therrell said there’s a process in place that reviews conditions brought forth by advocacy groups to become part of the screenings. So far, five conditions, including Severe Combined Immunodeficiency Disease, or Boy in the Bubble Syndrome, have been reviewed and all sent back seeking additional evidence from researchers.