A recent article in the Journal Sentinel highlights the importance of newborn screening and what can go wrong in analyzing and interpreting test results. The article follows children's stories, from being tested as babies to now young children with significant mental and physical disorders.
According to the article, while all 50 states are required to test for newborn screening, each state has their own approach for screening for as many as 58 genetic disorders. A 2013 Journal Sentinel investigation found that mistakes in newborn screening can crop up anywhere in the process—blood could be collected incorrectly; a test might be botched or misread; samples may be sent late to state labs.
Dietrich Matern, M.D., Ph.D., Co-Director of the Biochemical Genetics Laboratory at Mayo Clinic in Rochester, weighed in on the topic and thinks newborn screening should be as uniform as the food at McDonald’s. “The burgers taste the same wherever you go,” he said. “Newborn screening should be the same way. It should be the same everywhere, with slight differences we don’t notice.”
Dr. Matern's lab specializes in treating and diagnosing patients with metabolic conditions. He’s been involved with newborn screening for most of his 25-year career, and he believes there is already a better way to address variability in newborn screening. He also sits on a committee that advises the U.S. Secretary of Health and Human Services on the topic.
While Dr. Matern is clear that newborn screening isn’t black and white, he is frustrated that labs aren’t taking advantage of a worldwide collaboration meant to control for many of those factors and create more uniformity in testing for all babies. Mayo Clinic offers software that is free and available to any medical professional who wants to use it. It was developed under a federal grant and is meant to help labs more accurately determine which babies have a disorder, while also reducing false positives.
Piero Rinaldo, M.D., Ph.D., clinical biochemical geneticist, colleague of Dr. Matern’s at Mayo Clinic, and lead doctor developing the software, gave a presentation about the screening software in early November to part of the federal advisory committee. Dr. Rinaldo explained how in 2013, the software reduced the number of false positives in Minnesota to just 17, resulting in a false positive rate of 0.024% for metabolic disorders tested by tandem mass spectrometry. That’s compared with an average false positive rate of 0.51% for more than two dozen state labs. When applied to 4 million newborns screened in the U.S. each year, only 960 babies would receive false positive results using the software, compared with 20,400 babies when it’s not used.
Dr. Matern said he doesn’t know why more state labs aren’t using the software, but he hopes they will.
“You want to make sure everyone is treated the same and you want them to get the best treatment, not just OK treatment,” he said. “That’s what I want to achieve: It doesn’t matter where you are born, you will be picked up. And if you aren’t affected, you will be left alone.”