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Science for Living: Access to newborn screening saves and improves lives

Babies born across the United States have been screened for congenital diseases since the Massachusetts Department of Public Health first tested babies for phenylketonuria in 1962. Now, there are dozens of conditions tested from heel-prick dried blood spot samples obtained a day or two after birth.

“Newborn screening is a wonderful interface of science and policy. As a society, having every baby, no matter where they’re born, have access to screening is probably one of the best medical and social justice programs,” said Anne Marie Comeau, PhD, professor of pediatrics and deputy director of the New England Newborn Screening Program, which serves a consortium of five New England states (Connecticut uses its own laboratory) operated by ForHealth Consulting at UMass Chan Medical School. “Without it, many children might otherwise die or live with debilitating, serious health problems.”

Dr. Comeau recently co-authored an article in Genetics in Medicine outlining the evidence and recommendation for mucopolysaccharidosis type II (MPS II, also known as Hunter syndrome) newborn screening, one of two conditions recently added to the U.S. Department of Health and Human Services’ Recommended Uniform Screening Panel, or RUSP. The additions bring the federal list to 37 core conditions (35 of which can be screened using dried blood spots) and 26 secondary conditions, which are disorders that might be detected in the differential diagnosis following an out-of-range result for a core disorder.

New England Newborn Screening Program’s laboratory at 4 Biotech Park can identify more than 60 neonatal medical conditions, using multiple platforms including tandem mass spectrometry, enzyme assays, antibody tests, isoelectric focusing, high pressure liquid chromatography, targeted mutation testing, real-time PCR and sanger sequencing.

While the federal government doesn’t have the authority to mandate what is included in state screening programs, the RUSP carries weight with state programs. Its list is based on recommendations from the U.S. Secretary of Health and Human Services Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, according to the paper’s authors. Comeau serves on the Evidence Review Committee, which performs the systematic evidence review that is provided to the advisory committee for its evidence-based decision-making.

A structure like the federal one of evidence review and deliberations with public input exists in the state. Massachusetts includes 32 core conditions on its state-required screening panel, said Comeau. Parents may also opt to participate in a pilot program, which allows screening for disorders that do not yet meet the Massachusetts Newborn Screening Advisory Committee’s stringent criteria for required screening while data accrue.

Comeau listed the following guiding principles used in Massachusetts for determining which disorders are required for screening:

  1. There must be consumer involvement in determining what gets screened.
  2. There must be a public health purpose for the screen.
  3. There must be public acceptance of the purpose of the screen.
  4. There must be an accurate screening test.
  5. The disorder must be treatable.
  6. Early treatment must be beneficial.
  7. There must be a significant, life-challenging risk of morbidity if the disorder is untreated in newborns.
  8. The screen must be reasonably priced.
  9. The prevalence of the disorder must be significant.
  10. There must be resources for and access to treatment and counseling.
  11. Positive health benefits must outweigh risks and burdens of screening and treatment on newborns and relatives.
  12. There must be a mechanism for regular review of the scientific and medical rationale for the screen.

Occasionally, parents refuse newborn screening because of misinformation shared on social media or because they don’t understand the benefits, according to Comeau.

“Thankfully, we have a really nice primary care community who understand the value of newborn screening,” she said. “We depend on them to help parents understand and when we call with an out-of-range result, they are the heroes who ensure that the baby has the appropriate diagnostic evaluation and treatment.”

Science for Living features the perspectives of UMass Chan Medical School experts on the research behind health news headlines. If you have ideas for topics you’d like to see explored, please send them to