The Lister Hill Center at the National Library of Medicine (NLM) worked with state newborn screening (NBS) public health programs and laboratories, other NBS organizations, and the HITSP Population Perspective Technical Committee to develop tools to help NBS programs and laboratories implement standard electronic messaging for NBS results. Health Level 7 (HL7) is the standard for electronic health information exchange in the U.S., and Logical Observation Identifiers Names and Codes (LOINC) and Systemized Nomenclature for Medicine -- Clinical Terms (SNOMED CT) are two clinical vocabulary standards.
We created a standard HL7 version 2.x example message and LOINC NBS panel. The LOINC panel (LOINC 54089-8) includes all of the LOINC and/or SNOMED CT codes required to report NBS results for all of the NBS programs in the U.S. NBS programs and laboratories can use these tools as a starting point for creating their HL7 NBS result messages and for mapping their local terms related to NBS to LOINC and SNOMED CT as appropriate. While the examples below may not contain the most recent additions to the LOINC NBS panel (e.g., for new conditions or analytes), with few exceptions, the codes and terminology included in the examples are valid.
In 2010, the Public Health Informatics Institute, through a grant funded by HRSA, convened a workgroup to develop a Newborn Dried Blood Spot (NDBS) Screening implementation guide for creating an HL7 Version 2.5.1 OML^O21 message to transmit NDBS laboratory orders from the birthing center/hospital to the public health laboratory, and an HL7 Version 2.5.1 ORU^R01 message for reporting a standardized NDBS laboratory result. The workgroup members included representatives from public health laboratories, public health agencies and the National Library of Medicine. These documents are the collaborative effort of that workgroup and are based on HL7 Version 2.5.1.
The PHII implementation guides were written in 2011 and do not contain the latest LOINC and SNOMED CT codes; however, they include technical details about HL7 specifications that are beyond the scope of our example HL7 messages. The guides are available from the PHII website.