Seminars in Perinatology
Volume 34, Issue 2 , Pages 156-162 , April 2010

Enhancing the Quality and Efficiency of Newborn Screening Programs Through the Use of Health Information Technology

  • Gregory J. Downing, DO, PhD

      Affiliations

    • Personalized Health Care Initiative, Office of the Secretary, US Department of Health and Human Services, Washington, DC
    • Corresponding Author InformationAddress reprint requests to Gregory J. Downing, DO, PhD, Office of the Secretary, 200 Independence Avenue, SW Room 445 F.5, Washington, DC 20201
    • ,
  • Alan E. Zuckerman, MD

      Affiliations

    • Department of Pediatrics, Georgetown University, US Department of Health and Human Services, Washington, DC
    • ,
  • Constanze Coon, PhD

      Affiliations

    • Deloitte Consulting LLP, McLean, VA
    • ,
  • Michele A. Lloyd-Puryear, MD, PhD

      Affiliations

    • Maternal and Child Health Bureau, Health Resources and Services Administration, US Department of Health and Human Services, Rockville, MD

References 

  1. Arn P. Newborn screening: Current status. Health Aff Millwood. 2007;26:559–566
  2. Newborn Screening Saves Lives Act of 2008 (HR 3825). Public Health Service (PHS) Act, 42 U.S.C. 300b-10. Report No. 110-570
  3. Watson M, Mann M, Lloyd-Puryear M, et al. Newborn screening: toward a uniform screening panel and system. Genet Med. 2006;8:1s–250s
  4. Hsieh SH, Hsieh SL, Chien YH, et al: Newborn screening healthcare information system based on service-oriented architecture. J Med Syst (in press)
  5. Downs SM, van Dyck PC, Rinaldo P, et al: Improving newborn screening laboratory test ordering and result reporting using health information exchange. J Am Med Inform Assoc (in press)
  6. US Department of Health and Human Services. Nationwide Health Information Network (NHIN): background and scope. http://healthit.hhs.gov/portal/server.pt?open=512&mode=2&cached=true&objID=1142Accessed October 20, 2009
  7. Brinner KA, Downing GJ. Advancing patient-centered pediatric care through health information exchange: update from the American Health Information Community Personalized Health Care Workgroup. Pediatrics. 2008;123(suppl 2):S122–S124
  8. US Government Printing Office. American Recovery and Reinvestment Act of 2009. http://www.gpo.gov/fdsys/pkg/PLAW-111publ5/content-detail.htmlAccessed October 14, 2009
  9. American College of Medical Genetics (ACMG). Newborn screening ACT sheets and confirmatory algorithms. http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htmAccessed October 14, 2009
  10. Genetic Alliance. Pioneering HHS HRSA Grant Funds Establishment of First National Newborn Screening Clearinghouse. http://www.geneticalliance.org/ws_display.asp?filter=pr.clearinghouseAccessed October 14, 2009
  11. US Surgeon General's “My Family Health Portrait”. https://familyhistory.hhs.gov/Accessed October 14, 2009
  12. Glaser J, Henley DE, Downing G, et al. Personalized Health Care Workgroup of the American Health Information Community (Advancing personalized health care through health information technology: an update from the American Health Information Community's Personalized Health Care Workgroup). J Am Med Inform Assoc. 2008;15:391–396
  13. US Department of Health and Human Services. Office of the National Coordinator for Health Information Technology, Newborn Screening AHIC Detailed Use Case December 31, 2008. http://healthit.hhs.gov/portal/server.pt/gateway/PTARGS_0-10731_848123-0_0-18/NBSDetailedUseCase.pdfAccessed October 14, 2009
  14. US National Library of Medicines. Newborn Screening Coding and Terminology Guide, Data Standards for Electronic Reporting. http://newbornscreeningcodes.nlm.nih.gov/Accessed October 14, 2009
  15. Region 4 Genetics Collaborative. MS/MS Data Project. http://www.region4genetics.org/msms_data_project/data_project_home.aspxAccessed October 14, 2009
  16. Blumenthal D. Stimulating the adoption of health information technology. N Engl J Med. 2009;360:1477–1479
  17. US Department of Health and Human Services, Health Resources and Services Administration. The Early Periodic Screening, Diagnosis, and Treatment (EPSDT) Program. http://www.hrsa.gov/epsdt/Accessed October 14, 2009
  18. Miller DW, Yeast JD, Evans RL, et al. Missing prenatal records at a birth center: a communication problem quantified. AMIA Annu Symp Proc. 2005;535–539
  19. Rouse B, Lockhart L, Matalon R, et al. Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations. J Inherit Metab Dis. 1990;13:289–291
  20. Krishnamoorthy U, Dickson M. Maternal phenylketonuria in pregnancy. The Obstetrician Gynaecologist. 2005;7:28–33
  21. Feero WG, Bigley MB, Brinner KM. New standards and enhanced utility for family health history information in the electronic health record: an update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup. J Am Med Inform Assoc. 2008;15:723–728
  22. Maillot F, Cook P, Lilburn M, et al. A practical approach to maternal phenylketonuria management. J Inherit Metab Dis. 2007;30:198–201
  23. Electronic information exchange is critical to closing the gap in health care reform. http://www.pitchengine.com/atlantawomensspecialists/electronic-information-exchange-is-critical-to-closing-the-gap-in-health-care-reform/24068/Accessed September 23, 2009
  24. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/Accessed October 20, 2009

PII: S0146-0005(09)00110-4

doi: 10.1053/j.semperi.2009.12.005

Seminars in Perinatology
Volume 34, Issue 2 , Pages 156-162 , April 2010

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