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

被引：22

作者：

Hinton, Cynthia F. ^{[1
]}

Homer, Charles J. ^{[2
]}

Thompson, Alexis A. ^{[3
]}

Williams, Andrea ^{[4
]}

Hassell, Kathryn L. ^{[5
]}

Feuchtbaum, Lisa ^{[6
]}

Berry, Susan A. ^{[7
]}

Comeau, Anne Marie ^{[8
,9
]}

Therrell, Bradford L. ^{[10
]}

Brower, Amy ^{[11
]}

Harris, Katharine B. ^{[12
]}

Brown, Christine ^{[13
]}

Monaco, Jana ^{[14
]}

Ostrander, Robert J. ^{[15
]}

Zuckerman, Alan E. ^{[16
]}

Kaye, Celia ^{[17
]}

Dougherty, Denise ^{[18
]}

Greene, Carol ^{[19
]}

Green, Nancy S. ^{[20
]}

机构：

[1] Ctr Dis Control & Prevent, Atlanta, GA 30329 USA

[2] Off Assistant Secretary Planning & Evaluat, Washington, DC USA

[3] Northwestern Univ, Dept Pediat, Chicago, IL 60611 USA

[4] Childrens Sickle Cell Fdn Inc, Pittsburgh, PA USA

[5] Univ Colorado, Div Hematol, Boulder, CO 80309 USA

[6] Calif Dept Publ Hlth, Richmond, CA USA

[7] Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA

[8] Univ Massachusetts, Sch Med, New England Newborn Screening Program, Boston, MA 02125 USA

[9] Univ Massachusetts, Sch Med, Dept Pediat, Boston, MA 02125 USA

[10] Univ Texas Hlth Sci Ctr San Antonio, Dept Pediat, San Antonio, TX 78229 USA

[11] Amer Coll Med Genet & Genom, Bethesda, MD USA

[12] New York State Dept Hlth, Albany, NY USA

[13] Natl PKU Alliance, Tomahawk, WI USA

[14] Organ Acidemia Assoc, Woodbridge, VA USA

[15] SUNY Upstate Med Univ, Dept Family Med, Syracuse, NY 13210 USA

[16] Georgetown Univ, Dept Pediat, Washington, DC 20057 USA

[17] Univ Colorado, Sch Med, Dept Pediat, Aurora, CO USA

[18] Agcy Healthcare Res & Qual, Rockville, MD USA

[19] Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA

[20] Columbia Univ, Dept Pediat, New York, NY 10027 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2016年 / 118卷 / 04期

关键词：

Newborn screening; Long-term follow-up; Outcomes; Quality improvement; TERM-FOLLOW-UP; SERVICES ADVISORY-COMMITTEE; HERITABLE DISORDERS; INFORMATION-SYSTEM; CYSTIC-FIBROSIS; US SECRETARY; CHILDREN; GUIDELINES; STATEMENT; PROGRAMS;

D O I：

10.1016/j.ymgme.2016.05.017

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. Published by Elsevier Inc.

引用

页码：221 / 229

页数：9

共 35 条

[11] The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings [J].