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

Abstract

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 high-quality 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.

Keywords::

• addition of new conditions to the RUSP
• newborn screening
• rare conditions
• Recommended Uniform Screening Pane

Acknowledgments

The authors gratefully acknowledge Marie Fleisner’s help to edit this article.