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



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.
Centers for Disease Control and Prevention, Atlanta, GA, United States. Electronic address: ceh9@cdc.gov.
Cynthia F
CF
Hinton
Office of the Assistant Secretary for Planning and Evaluation, Washington, DC, United States.
Charles J
CJ
Homer
Department of Pediatrics, Northwestern University, Chicago, IL, United States.
Alexis A
AA
Thompson
Children's Sickle Cell Foundation, Inc., Pittsburgh, PA, United States.
Andrea
A
Williams
Division of Hematology, University of Colorado, United States.
Kathryn L
KL
Hassell
California Department of Public Health, Richmond, CA, United States.
Lisa
L
Feuchtbaum
Department of Pediatrics, University of Minnesota, United States.
Susan A
SA
Berry
New England Newborn Screening Program and Department of Pediatrics, University of Massachusetts Medical School, Boston, MA, United States.
Anne Marie
AM
Comeau
Department of Pediatrics, University of Texas Health Science Center, San Antonio, TX, United States.
Bradford L
BL
Therrell
American College of Medical Genetics and Genomics, Bethesda, MD, United States.
Amy
A
Brower
New York State Department of Health, Albany, NY, United States.
Katharine B
KB
Harris
National PKU Alliance, Tomahawk, WI, United States.
Christine
C
Brown
Organic Acidemia Association, Woodbridge, VA, United States.
Jana
J
Monaco
Department of Family Medicine, SUNY Upstate Medical University, Syracuse, NY, United States.
Robert J
RJ
Ostrander
Department of Pediatrics and Department of Family Medicine, Georgetown University, Washington, DC, United States.
Alan E
AE
Zuckerman
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, United States.
Celia
C
Kaye
Agency for Healthcare Research and Quality, Rockville, MD, United States.
Denise
D
Dougherty
Department of Pediatrics, University of Maryland, Baltimore, MD, United States.
Carol
C
Greene
Department of Pediatrics, Columbia University, New York, NY, United States.
Nancy S
NS
Green
D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000592:standards* / Q000639:trends; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011634:Public Health
Long-term follow-up; Newborn screening; Outcomes; Quality improvement