Standardizing newborn screening results for health information exchange
- PMID: 21346929
- PMCID: PMC3041276
Standardizing newborn screening results for health information exchange
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.
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References
-
- 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.
-
- 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
-
- Logical Observation Identifiers Names and Codes [Internet] Indiana: Regenstrief Institute, Inc.; c1994–2010. [cited 2010 July 15]. Available from: http://loinc.org/.
-
- 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/
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