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Newborn screening health information exchange: updated guidance for coding and HL7 electronic messaging.
Newborn screening has high-stakes health implications and requires rapid and effective communication between many people and organizations. Multiple agencies worked together to create national guidance for reporting newborn screening results with HL7 messages that contain LOINC and SNOMED CT codes, report quantitative test results, and use standardized computer-readable UCUM units of measure. This guidance (a LOINC panel and an example annotated HL7 message) enables standard HL7 v2.5.1 laboratory messages to carry the information required for reporting newborn screening results. If the guidance is used nationally, regional and national registries can aggregate results from state programs to facilitate research and quality assurance. Using national standards for coding (that are already required for certified EHRs) enables implementation with fewer burdens on vendors, labs, hospitals and pediatric providers to customize systems for every change and implementation – a large group of users will be ready to receive data electronically from newborn screening laboratories. The results messaging guidance served as a foundation for developing the PHII HL7 implementation guides for newborn dried blood spot screening orders and results. NLM and HRSA have worked closely with several state newborn screening laboratories and programs that are implementing this guidance, whose feedback helped refine the LOINC panel. Excellent collaboration enabled us to rapidly develop codes for severe combined immunodeficiency (SCID) when it was added as a core condition to the Recommended Uniform Screening Panel of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, and to develop a panel of codes for lysosomal storage disorders that several states have added to their screening protocol. We are now developing codes for short- and long-term follow up, beginning with the laboratory tests for confirmation and diagnosis of conditions targeted by newborn screening.