Improving newborn screening laboratory test ordering and result reporting using health information exchange

Stephen M. Downs, Peter C. van Dyck, Piero Rinaldo, Clement McDonald, R. Rodrey Howell, Alan Zuckerman, Gregory Downing

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Capture, coding and communication of newborn screening (NBS) information represent a challenge for public health laboratories, health departments, hospitals, and ambulatory care practices. An increasing number of conditions targeted for screening and the complexity of interpretation contribute to a growing need for integrated information-management strategies. This makes NBS an important test of tools and architecture for electronic health information exchange (HIE) in this convergence of individual patient care and population health activities. For this reason, the American Health Information Community undertook three tasks described in this paper. First, a newborn screening use case was established to facilitate standards harmonization for common terminology and interoperability specifications guiding HIE. Second, newborn screening coding and terminology were developed for integration into electronic HIE activities. Finally, clarification of privacy, security, and clinical laboratory regulatory requirements governing information exchange was provided, serving as a framework to establish pathways for improving screening program timeliness, effectiveness, and efficiency of quality patient care services.

Original languageEnglish (US)
Pages (from-to)13-18
Number of pages6
JournalJournal of the American Medical Informatics Association
Issue number1
StatePublished - Jan 2010
Externally publishedYes

ASJC Scopus subject areas

  • Health Informatics


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