NATIONAL HARBOR, Maryland — The idea of screening newborns for debilitating and potentially fatal diseases is generally a good one. But the practice, which has been around for more than 60 years, is not a panacea.

Georgianne Arnold
Georgianne Arnold, MD, professor of pediatrics at the University of Pittsburgh Medical Center, discusses newborn screening at WODC 2021. Credit: Larry Luxner

Speaking August 27, 2021, at the World Orphan Drug Congress USA 2021, Georgianne Arnold, MD, said newborn screening has come a long way since the early 1960s, when the American Medical Association opposed it on the grounds that it smacked of socialism. Dr. Arnold is a pediatrics professor at Pennsylvania’s University of Pittsburgh Medical Center and past president of the Society for Inherited Metabolic Disorders.

With the advent of tandem mass spectrometry analysis of dried blood spots in the early 1990s, newborn screening really took off, she said, allowing for the detection of more than 50 metabolic disorders with a single test of a small sample. 

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The most common disorder detected by newborn screening isn’t a rare disease at all, but rather hearing loss, followed by primary congenital hypothyroidism, sickle cell disease, cystic fibrosis, medium-chain acyl-CoA dehydrogenase deficiency, classical galactosemia, and phenylketonuria.

Newborn screening currently reaches each of the 4 million babies born each year in the United States, and roughly 1 in 300 newborns are diagnosed with a condition through screening.

Yet the widespread practice of taking blood samples from a baby’s heel can be a double-edged sword, Arnold said, warning that false-positive screening results may put families at risk for increased stress and parent-child dysfunction.

“Newborn screening is compassionate,” she said. “But if you push a family over the edge who didn’t really need to be there to begin with, maybe you haven’t done good.”

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There’s also a problem when it comes to lysosomal storage disorders such as Gaucher and Fabry diseases. 

“Enzyme replacement therapy is now available for a number of these disorders, but enzymes don’t behave the same in your body as they do in a test tube. And there’s also not enough data on when enzyme replacement therapy should be started in asymptomatic infants.”

Furthermore, she said, “newborn screening is state-run, so if you live near the border of 2 states and you go to one hospital to deliver a child and your neighbor delivers in another state, your child’s life could be saved by the screen, and the other not.”

In 2000, the Bush administration established the Advisory Committee on Heritable Disorders in Newborns and Children. Over the years, this committee has added a number of illnesses to the Recommended Uniform Screening Panel (RUSP), including Pompe disease, MPS-1, and adrenoleukodystrophy, while repeatedly rejecting Krabbe disease, Fabry disease, and Neimann-Pick disease.

Even so, Dr. Arnold said, “the RUSP and the President’s Council on Bioethics have largely been ignored by the states because they’re recommendations. They have no teeth. Expansion of newborn screening has been pushed by well-meaning parent groups and industry, and doctors have often been cut out of the process. So a ‘Wild West’ mentality has taken over.”  

She added: “Some disorders are screened because desperate parents are desperate for solutions, and legislators have big hearts — and because someone makes a treatment for it. Unfortunately, people don’t always understand evidence-based medicine. They understand what’s in front of them: a sick child.”


Newborn screening: at the intersection of politics and medicine. Presented at: World Orphan Drug Congress USA 2021: August 26, 2021; National Harbor, MD.