A framework for assessing outcomes from newborn screening

on the road to measuring its promise

the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)

Research output: Contribution to journalComment/debate

4 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)221-229
Number of pages9
JournalMolecular Genetics and Metabolism
Volume118
Issue number4
DOIs
StatePublished - Aug 1 2016

Fingerprint

Screening
Newborn Infant
Health
Outcome Assessment (Health Care)
Public health
Public Health
Phenylketonurias
Information Storage and Retrieval
Sickle Cell Anemia
Advisory Committees
Growth and Development
Health Services
Publications
Mortality

Keywords

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

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (2016). A framework for assessing outcomes from newborn screening: on the road to measuring its promise. Molecular Genetics and Metabolism, 118(4), 221-229. https://doi.org/10.1016/j.ymgme.2016.05.017
the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). / A framework for assessing outcomes from newborn screening : on the road to measuring its promise. In: Molecular Genetics and Metabolism. 2016 ; Vol. 118, No. 4. pp. 221-229.
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title = "A framework for assessing outcomes from newborn screening: on the road to measuring its promise",
abstract = "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.",
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the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) 2016, 'A framework for assessing outcomes from newborn screening: on the road to measuring its promise', Molecular Genetics and Metabolism, vol. 118, no. 4, pp. 221-229. https://doi.org/10.1016/j.ymgme.2016.05.017

A framework for assessing outcomes from newborn screening : on the road to measuring its promise. / the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).

In: Molecular Genetics and Metabolism, Vol. 118, No. 4, 01.08.2016, p. 221-229.

Research output: Contribution to journalComment/debate

TY - JOUR

T1 - A framework for assessing outcomes from newborn screening

T2 - on the road to measuring its promise

AU - the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)

AU - Hinton, Cynthia F.

AU - Homer, Charles J.

AU - Thompson, Alexis A

AU - Williams, Andrea

AU - Hassell, Kathryn L.

AU - Feuchtbaum, Lisa

AU - Berry, Susan A.

AU - Comeau, Anne Marie

AU - Therrell, Bradford L.

AU - Brower, Amy

AU - Harris, Katharine B.

AU - Brown, Christine

AU - Monaco, Jana

AU - Ostrander, Robert J.

AU - Zuckerman, Alan E.

AU - Kaye, Celia

AU - Dougherty, Denise

AU - Greene, Carol

AU - Green, Nancy S.

PY - 2016/8/1

Y1 - 2016/8/1

N2 - 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.

AB - 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.

KW - Long-term follow-up

KW - Newborn screening

KW - Outcomes

KW - Quality improvement

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U2 - 10.1016/j.ymgme.2016.05.017

DO - 10.1016/j.ymgme.2016.05.017

M3 - Comment/debate

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SP - 221

EP - 229

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

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the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). A framework for assessing outcomes from newborn screening: on the road to measuring its promise. Molecular Genetics and Metabolism. 2016 Aug 1;118(4):221-229. https://doi.org/10.1016/j.ymgme.2016.05.017