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
 
(2013)
 
doi:10.1038/gim.2013.177
Received
 
Accepted
 
Published online 


Abstract

Purpose:

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.

Methods:

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.

Results:

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.

Conclusion:

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
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Keywords:

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

References

  1. Pass KA, Lane PA, Fernhoff PM, et al. US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN). J Pediatr 2000;137(suppl 4):S1–S46.
  2. Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR; American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system–executive summary. Pediatrics 2006;117(suppl 3):S296–S307.
  3. Kemper AR, Boyle CA, Aceves J, et al. Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genet Med 2008;10:259–261.
  4. Hinton CF, Feuchtbaum L, Kus CA, et al. What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med2011;13:861–865.
  5. Hoff TP, Hoyt AMPH, Therrell BP, Ayoob MMPH. Exploring barriers to long-term follow-up in newborn screening programs. Genet Med 2006;8:563–570.
  6. Hoff T, Ayoob M, Therrell BL. Long-term follow-up data collection and use in state newborn screening programs. Arch Pediatr Adolesc Med 2007;161:994–1000.
  7. Puryear M, Weissman G, Watson M, Mann M, Strickland B, van Dyck PC. The regional genetic and newborn screening service collaboratives: the first two years. Ment Retard Dev Disabil Res Rev 2006;12:288–292.
  8. Berry SA, Jurek AM, Anderson C, Bentler K; Region 4 Genetics Collaborative Priority 2 Workgroup. The inborn errors of metabolism information system: a project of the Region 4 Genetics Collaborative Priority 2 Workgroup. Genet Med 2010;12(suppl 12):S215–S219.
  9. Sahai I, Eaton RB, Hale JE, Mulcahy EA, Comeau AM. Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England. Genet Med 2010;12(suppl 12):S220–S227.
  10. Singh RH, Hinman AR. Newborn dried bloodspot screening: long-term follow-up activities and information system requirements. Genet Med 2010;12(suppl 12):S261–S266.
  11. Berry SA, Lloyd-Puryear MA, Watson MS. Long-term follow-up of newborn screening patients.Genet Med 2010;12(suppl 12):S267–S268.
  12. Mai CT, Law DJ, Mason CA, McDowell BD, Meyer RE, Musa D; National Birth Defects Prevention Network. Collection, use, and protection of population-based birth defects surveillance data in the United States. Birth Defects Res Part A Clin Mol Teratol2007;79:811–814.
  13. Wang Y, Caggana M, Sango-Jordan M, Sun M, Druschel CM. Long-term follow-up of children with confirmed newborn screening disorders using record linkage. Genet Med2011;13:881–886.
  14. Feuchtbaum L, Dowray S, Lorey F. The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings. Genet Med2010;12(suppl 12):S242–S250.
  15. National Birth Defects Prevention Network (NBDPN). Guidelines for Conducting Birth Defects Surveillance. In: Sever LE (ed). NBDPN: Atlanta, GA, 2004.http://www.nbdpn.org/bdsurveillance.html.
  16. Kronn D, Mofidi S, Braverman N, Harris K; Diagnostics Guidelines Work Group. Diagnostic guidelines for newborns who screen positive in newborn screening. Genet Med2010;12(suppl 12):S251–S255.
  17. Wright EL, Van Hove JL, Thomas J; Mountain States Metabolic Consortium. Mountain States Genetics Regional Collaborative Center’s Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research. Genet Med 2010;12(suppl 12):S228–S241.
  18. Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.Recommended Uniform Screening Panel of the Secretary’s Advisroy Committee on Heritable Disorders in Newborns and Children.http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html. Accessed 11 February 2013.
  19. CDC. Impact of expanded newborn screening–United States, 2006. MMWR Morb Mortal Wkly Rep 2008;57:1012–1015.
  20. National Newborn Screening Information System. http://ww2.uthscsa.edu. Accessed 20 October 2009.
  21. Feuchtbaum L, Carter J, Dowray S, Currier RJ, Lorey F. Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genet Med 2012;14:937–945.
  22. Livingston J, Therrell BL Jr, Mann MY, et al. Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned. J Community Genet 2011;2:191–200.
  23. CDC. Public health surveillance in the United States: evolution and challenges. MMWR2012;61(suppl):3–9.
  24. CDC. Lexicon, definitions, and conceptual framework for public health surveillance. MMWR2012;61(suppl):10–14.
  25. Lloyd-Puryear MA, Brower A. Long-term follow-up in newborn screening: a systems approach for improving health outcomes. Genet Med 2010;12(suppl 12):S256–S260.
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Author information

Affiliations

  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

Correspondence to: 

Supplementary information

Word documents


  1. Supplementary Table S1 (30 KB)

Excel files


  1. Supplementary Table S2 (72 KB)

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