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Does Newborn Screening Lead to Life-Span Benefits?

December 16, 2019
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To find the answer, researchers suggest data systems to track long-term care and outcomes are needed.

Newborns in the United States are screened for a list of diseases, a practice that saves or improves 13,000 lives annually, the Centers for Disease Control and Prevention estimates.

But, a group of health experts who helped build the list say screening programs can do better.

In a commentary in the journal Pediatrics, the group suggests that each state’s public health program needs to have a plan to follow-up with children longer, to make sure they are receiving the right treatments and interventions as they age.

Hospitals have been screening babies shortly after birth, according to each state’s public health program, for decades. The programs currently have some variation but largely use the federal Recommended Uniform Screening Panel (RUSP) for their screening list.

Evidence shows newborn screening speeds up identification of a wide range of disorders and decrease the risk of serious health problems or even death.

“These screening programs do a great job screening and making sure that newborns with a positive screen get evaluated for these disorders,” says Alex Kemper, MD, MPH, MS, division chief of Primary Care Pediatrics at Nationwide Children’s Hospital and lead author of the commentary.

“Making sure that newborns identified with a disorder get the best treatment is challenging ,” says Dr. Kemper, who is also chair of the Condition Review Work Group, which evaluates the evidence for adding a disease to RUSP. “For example, we know that not all children with sickle cell disease get life-saving penicillin prophylaxis.”

The authors point to potential shortfalls in long-term care for children with congenital hypothyroidism and patients with phenylketonuria as they become adults. Adding to the need for longer surveillance, newborn screening also now identifies some conditions, such as adrenoleukodystrophy or Pompe disease, that may not require treatment until late childhood or adulthood.

“We have a public health mandate to screen early and detect these diseases in all newborns,” Dr. Kemper says. “The challenge now is developing systems that will enable us to know whether, as a result, we’re improving outcomes through coordinated long-term follow-up care.”

The authors discuss several approaches and conclude the ideal system would share comprehensive health-care data for all screened newborns identified with a condition. But they warn this would take time. Until then, disease-specific registries and longitudinal data, such as the National Institutes of Health Longitudinal Pediatric Data Resource, may provide some information to help evaluate treatment outcomes for these children.

Beyond data, Dr. Kemper and his colleagues suggest that clinicians should, through providing the medical home, synthesize relevant health care data and assure comprehensive care. Pediatricians could also encourage families to participate in registries that may improve long-term health outcomes for their and similarly affected children.

Reference:

Kemper A, Boyle C, Brosco J, Grosse S. Ensuring the life-span benefits of newborn screening. Pediatrics. 2019 Dec;144(6):e20190904.

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