A framework for assessing outcomes from newborn screening: on the road to measuring its promise

UMMS Affiliation

New England Newborn Screening Program; Department of Pediatrics, Division of Genetics

Publication Date


Document Type



Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Health Services Research | Medical Genetics | Pediatrics


Newborn screening (NBS) is intended to identify congenital conditions prior to the onset of symptoms in order to provide early intervention that leads to improved outcomes. NBS is a public health success, providing reduction in mortality and improved developmental outcomes for screened conditions. However, it is less clear to what extent newborn screening achieves the long-term goals relating to improved health, growth, development and function. We propose a framework for assessing outcomes for the health and well-being of children identified through NBS programs. The framework proposed here, and this manuscript, were approved for publication by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This framework can be applied to each screened condition within the Recommended Uniform Screening Panel (RUSP), recognizing that the data elements and measures will vary by condition. As an example, we applied the framework to sickle cell disease and phenylketonuria (PKU), two diverse conditions with different outcome measures and potential sources of data. Widespread and consistent application of this framework across state NBS and child health systems is envisioned as useful to standardize approaches to assessment of outcomes and for continuous improvement of the NBS and child health systems. SIGNIFICANCE: Successful interventions for newborn screening conditions have been a driving force for public health newborn screening for over fifty years. Organizing interventions and outcome measures into a standard framework to systematically assess outcomes has not yet come into practice. This paper presents a customizable outcomes framework for organizing measures for newborn screening condition-specific health outcomes, and an approach to identifying sources and challenges to populating those measures.


Long-term follow-up, Newborn screening, Outcomes, Quality improvement

DOI of Published Version



Mol Genet Metab. 2016 Aug;118(4):221-9. doi: 10.1016/j.ymgme.2016.05.017. Epub 2016 May 31. Link to article on publisher's site

Journal/Book/Conference Title

Molecular genetics and metabolism


Full author list omitted for brevity. For full list of authors see article.

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