A US perspective on newborn screening: A powerful tool for prevention

Andrea E. DeBarber, Robert D. Steiner

Research output: Contribution to journalArticlepeer-review


This article describes the rise of newborn screening in the USA, where it has become a powerful tool to prevent the mortality, morbidity and disability otherwise associated with many undetected rare conditions. In an effort to improve harmonization of newborn screening across the USA, a Recommended Uniform Screening Panel (RUSP) of core conditions was proposed in 2005 that is now near universally screened for. An evidence-based procedure has been developed to assess candidate conditions nominated for addition to the RUSP. Multiple stakeholders must play a role to generate the highquality evidence required to support successful nomination of a condition for addition to the RUSP. The nomination, and potential addition, of conditions to the RUSP, can be a difficult and lengthy process. Screening newborns for new conditions requires significant effort not only on the part of researchers to develop screening tests and treatments but also on the part of newborn screening programs to implement new testing methodologies, in quality management, follow up, diagnosis and education. Continued advances in newborn screening methodologies and development of new treatments for rare conditions not currently screened for in newborns offer exciting new avenues to prevent mortality, morbidity and disability in newborns affected with rare conditions.

Original languageEnglish (US)
Pages (from-to)1151-1157
Number of pages7
JournalExpert Opinion on Orphan Drugs
Issue number11
StatePublished - Nov 1 2014


  • Addition of new conditions to the RUSP
  • Newborn screening
  • Rare conditions
  • Recommended uniform screening pane

ASJC Scopus subject areas

  • Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
  • Health Policy
  • Pharmacology (medical)


Dive into the research topics of 'A US perspective on newborn screening: A powerful tool for prevention'. Together they form a unique fingerprint.

Cite this