Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2010 Nov 13:2010:1-5.

Standardizing newborn screening results for health information exchange

Swapna Abhyankar  1 , Michele A Lloyd-Puryear, Rebecca Goodwin, Sara Copeland, John Eichwald, Bradford L Therrell, Alan Zuckerman, Greg Downing, Clement J McDonald
Affiliations

Standardizing newborn screening results for health information exchange

Swapna Abhyankar et al. AMIA Annu Symp Proc. .

Abstract

Newborn screening (NBS) is a complex process that has high-stakes health implications and requires rapid and effective communication between many people and organizations. Currently, each NBS laboratory has its own method of reporting results to state programs, hospitals and individual providers, with wide variation in content and format. Pediatric care providers receive reports by mail, email, fax or telephone, depending on whether the results are normal or abnormal. This process is slow and prone to errors, which can lead to delays in treatment. Multiple agencies worked together to create national guidance for reporting newborn screening results with HL7 messages that contain a prescribed set of LOINC and SNOMED CT codes, report quantitative test results, and use standardized units of measure. Several states are already implementing this guidance. If the guidance is used nationally, office EHRs could capture NBS results more efficiently, and regional and national registries could better analyze aggregate results to facilitate improvements in NBS and further research for these rare conditions.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Excerpt of the LOINC hierarchy showing codes and attributes (required/optional, cardinality and data type) for four of the eight variables in the Newborn Screening Report summary panel.
Figure 2.
Figure 2.
Excerpt from the answer list for “Sample quality of Dried blood spot,” with sequence numbers and LOINC answer codes.
Figure 3.
Figure 3.
Excerpt from a prototype Pennsylvania HL7 message, being developed by PerkinElmer and Oz Systems.
See this image and copyright information in PMC

References

    1. Health Resources and Services Administration Recommended uniform screening panel of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children [Internet] [cited 2010 July 15]. Available from: http://www.hrsa.gov/heritabledisorderscommittee/uniformscreeningpanel.htm.
    1. Desposito F, Lloyd-Puryear MA, Tonniges TF, Rheinand F, Mann M. Survey of pediatrician practices in retrieving statewide authorized newborn screening results. Pediatrics [Internet] 2001 Aug 2;108(2):e22. [8 pages]. Available from: http://www.pediatrics.org/cgi/content/full/108/2/e22. - PubMed
    1. 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. 2010 Jan;17(1):13–18. - PMC - PubMed
    1. Logical Observation Identifiers Names and Codes [Internet] Indiana: Regenstrief Institute, Inc.; c1994–2010. [cited 2010 July 15]. Available from: http://loinc.org/.
    1. The Unified Code for Units of Measure is a code system intended to facilitate unambiguous electronic communication of quantities together with their units. Available from: http://unitsofmeasure.org/

LinkOut - more resources