domingo, 15 de diciembre de 2013

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings : Genetics in Medicine : Nature Publishing Group

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings : Genetics in Medicine : Nature Publishing Group

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

Genetics in Medicine
Published online 



The aim of this study was to describe the methods, cases, and initial results of a pilot project using existing public health data collection programs (birth defect surveillance or newborn screening) to conduct long-term follow-up of children with metabolic disorders.


California, Iowa, New York, and Utah expanded birth defect surveillance or newborn screening programs to collect long-term follow-up data on 19 metabolic disorders. Data elements to monitor health status and services delivered were identified, and record abstraction and data linkages were conducted. Children were followed up through to the age of 3 years.


A total of 261 metabolic cases were diagnosed in 1,343,696 live births (19.4 cases/100,000; 95% confidence interval = 17.1–21.8). Four deaths were identified. Children with fatty acid oxidation disorders had a higher percentage of health service encounters compared with children with other disorders of at least one health service encounter (hospitalization, emergency room, metabolic clinic, genetic service provider, or social worker) except for hospitalizations; children with organic acid disorders had a higher percentage of at least one hospitalization during their third year of life than children with other disorders.


Existing public health data programs can be leveraged to conduct population-based newborn screening long-term follow-up. This approach is flexible according to state needs and resources. These data will enable the states in assessing health burden, assuring access to services, and supporting policy development.
Genet Med advance online publication 5 December 2013


long-term follow-up; newborn screening metabolic disorders; public health surveillance


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Author information


  1. Centers for Disease Control and Prevention, Atlanta, Georgia, USA

    • Cynthia F. Hinton,
    • Cara T. Mai &
    • Richard S. Olney
  2. Social and Scientific Systems, Silver Spring, Maryland, USA

    • Sarah K. Nabukera
  3. Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA

    • Lorenzo D. Botto
  4. Genetic Disease Screening Program, California Department of Public Health, Sacramento, California, USA

    • Lisa Feuchtbaum
  5. University of Iowa, Iowa City, Iowa, USA

    • Paul A. Romitti
  6. New York State Department of Health, Albany, New York, USA

    • Ying Wang
  7. Iowa Department of Public Health, Des Moines, Iowa, USA

    • Kimberly Noble Piper
  8. At the time of this study, S.K.N. was working with the University of Iowa.

Corresponding author

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