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Newborn Screening Coding and Terminology Guide

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Newborn screening (NBS) in the United States is a complex public health program. The goals of NBS are to identify infants who appear healthy but have serious conditions, begin treatment before they suffer significant disability or death, and in doing so decrease the burden of disease on society. In 2006, a recommended uniform screening panel was published that included conditions based on detailed criteria for the condition itself, screening and diagnostic tests, and treatment and management. Currently, the recommended panel includes 31 primary conditions and 26 secondary conditions. The impact of NBS goes far beyond the newborn period; infants who are diagnosed with conditions based on NBS will need long-term follow-up, including testing, monitoring, and treatment, for the rest of their lives. NBS stakeholders include patients, families, hospitals, laboratories, public health programs, primary care and specialty providers, and many others.

LHNCBC worked with multiple agencies to standardize all of the variables used in NBS using national coding standards as required by Meaningful Use Stage 2. We have created a comprehensive panel of LOINC terms for NBS and continue to create new LOINC terms as new conditions or other variables (such as tests or analytes) are added. We periodically review and update existing codes based on user feedback. We have mapped all of the NBS conditions to SNOMED CT and use standard Unified Code for Units of Measure units. We are also working on standardizing data collection and coding for short‐ and long‐term follow-up of infants diagnosed with a condition found on NBS. We have developed guidance for electronic reporting of newborn screening results using HL7 messages as well as an example message that NBS can use as a template for their own messages.

We are working with several states that are currently implementing this guidance and many others that are in the early planning stages. Using standard terms and codes for NBS would allow NBS programs to communicate results more efficiently, programs to collect more long-term follow-up data, and regional and national registries to aggregate results and provide more data for research on improving screening and treatment protocols, all with the ultimate goal of improving patient outcomes.

The NBS Web site (newbornscreeningcodes.nlm.nih.gov) contains all of the standard codes and terminology for newborn screening tests and conditions as well as our guidance for creating a standard HL7 NBS result message and our example HL7 message. The Web site includes free downloads, including web-based views and downloads of terminology data that users can customize, the HL7 implementation guidance and example message, and links to other free NLM resources, including Genetics Home Reference and the UMLS.

Publications/Tools: 
Abhyankar S, Goodwin RM, Sontag M, Yusuf C, Ojodu J, McDonald CJ. An update on the use of health information technology in newborn screening. Semin Perinatol. 2015 Apr;39(3):188-93. doi: 10.1053/j.semperi.2015.03.003. Epub 2015 Apr 29.
Goodwin RM, Abhyankar S, Zuckerman AE, Copeland SM, Sarkar D, Cuthbert C, Therrell BL, Ojodu J, Lloyd-Puryear MA, Jenders RA, McDonald CJ. Newborn screening health information exchange: updated guidance for coding and HL7 electronic messaging. APHL Newborn Screening and Genetics Testing Symposium. 2011 Nov 7.
Abhyankar S, Goodwin RM, Zuckerman A, McDonald CJ. Dataset: newborn screening results annotated example HL7 electronic message guidance (v 5.2).
Abhyankar S, Therrell B, Eaton R, Cuthbert C, Ojodu J, Copeland S, Goodwin RM, McDonald C. Using LOINC and HL7 to standardize hemoglobinopathy screening result reporting. APHL Newborn Screening and Genetics Testing Symposium. 2011 Nov 7.
Abhyankar S, Goodwin RM, Zuckerman AE, McDonald CJ. Dataset: Newborn screening LOINC panel.
Abhyankar S, Goodwin RM, Zuckerman AE, McDonald CJ. Dataset: newborn screening LOINC codes (AHIC panel).
Abhyankar S, Lloyd-Puryear MA, Goodwin R, Copeland S, Eichwald J, Therrell BL, Zuckerman A, Downing G, McDonald CJ. Standardizing newborn screening results for health information exchange. AMIA Annu Symp Proc. 2010 Nov 13;2010:1-5.