If you have a baby in California, the doctor must test the infant for galactosemia, a genetic condition that requires a milk-free diet. But if you reside in Louisiana, the test is not mandated.
Concerned by such inconsistencies, a new federal report calls for national standards in the screening for diseases of the 4 million babies born each year in the United States. But one prominent children’s organization is criticizing the report for not going far enough.
The report, published in this month’s Pediatrics, is being released today by the federal Health Resources and Services Administration and the American Academy of Pediatrics, a year after a national task force met in Washington to examine current practices.
The report found that state newborn screening systems need to be both modernized and standardized.
“Newborns are being denied services just by the states in which they are born,” says Dr. Edward McCabe, co-chairman of the task force and physician-in-chief at the Mattel Children’s Hospital in Los Angeles. “There should be a consideration at the national level of what the core battery of tests are.”
Health Resources and other agencies will use the report in working with states to “try to produce some national agreement on what tests should be developed or be part of a core set of tests that at a minimum states should test for,” says Dr. Peter van Dyck, director of HRSA’s Maternal and Child Health Bureau.
Currently, every baby born in the United States is tested for anywhere from two to as many as 35 genetic or metabolic diseases that are treatable with special diets or medication.
But screening is done on a state-by-state basis through the local health department, with requirements varying widely from state to state.
State Disparities Every state requires newborns be tested for phenylketonuria (PKU) and hypothyroidism, two metabolic disorders that can lead to mental retardation without a special diet or medications. But only around half of all states require babies be given universal hearing tests.
States such as Massachusetts, Wisconsin, Michigan, Virginia and Arizona require testing of at least seven conditions, while others, like Utah and South Dakota, only require three.
If your baby has sickle cell anemia — a condition caused by abnormally shaped red blood cells that is common in the black community — but you happen to live in Idaho, Utah, North or South Dakota, chances are the infant won’t be tested. If your baby has galactosemia, but you live in a state that doesn’t currently require testing for it — Louisiana, Pennsylvania or Washington — it may not be detected.
Without treatment, the child may have developmental disabilities. This spotty screening means that many children with these rare diseases develop severe illnesses or even die, which could have been prevented with proper treatment.
“It’s clear that if you’re born in one state, that state may be giving you more or less tests than the others,” says Brad Ferrell, a task force member and chairman of the National Newborn Screening and Genetic Resource Center in Austin, Texas. “People might legitimately ask their state legislators, why does our state gets fewer tests than the state next door?”
Self-Testing Some parents have resorted to paying independent labs for tests not done in their own states. Baylor University Medical Center in Dallas offers a $25 test kit parents can order by mail.
Director Dr. Larry Sweetman says the lab has received around 1,000 requests for supplemental screening kits this month alone. “It’s increasing,” he says, “because parent support groups are making it known.”
And Charles Hehmeyer, a Philadelphia attorney, has several lawsuits pending on behalf of parents whose children went undiagnosed because their states didn’t mandate testing. “Kids die of these disorders every day because they’re not screened,” he says. “It’s so random, so nonsensical. Why is there no urgency here?”
Dr. Donald R. Mattison, medical director of the March of Dimes, the national health agency that works to prevent birth defects, agrees the screening system is in disarray, but says the new report does not take a firm enough stand.
The March of Dimes is recommending that eight core tests — for PKU, hypothyroidism, maple syrup urine disease, biotinidase deficiency, congenital adrenal hyperplasia, galactosemia, homocystinuria and sickle cell anemia — should be done in every state and for all babies, despite the cost.
At What Cost? But the cost factor is an issue, says McCabe. Overall, one out of 1,500 newborns will be born with a disorder that a simple screening test could have found.
But while some conditions, like hypothyroidism, affect as many as 1 out of 4,000 babies, others — like maple syrup urine disease, which causes the urine to have a syrupy odor — affect only one out of 250,000 babies.
The current cost of screening can range from about $10 to $25 per child, bringing the cost annually to about $40 million to $100 million nationwide. With more tests, the costs would go up.
The issue will only become more pressing as new disorders are discovered and new tests are developed. Already, several states including Massachusetts, North Carolina and Pennsylvania are looking into adding tandem mass spectrometry, a new technique using blood samples that costs around $25 but can screen for 30 or more diseases, to their screening programs.
“One of the tenets of newborn screening is that you have to demonstrate that it is more cost-effective to screen than to diagnose and treat,” says the task force’s McCabe. “In order to sell this to the states, we have to argue that it’s cost-effective. Public health agencies have finite resources and have to look at costs.”
But Mattison disputes that way of thinking. “Cost is not an issue that has to be addressed,” he says. “These are valuable human beings — how nickel-and-diming do we want to be?”
The Associated Press contributed to this report.