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.