Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model

Abstract

As newborn screening programs transition from paper-based data exchange toward automated, electronic methods, significant data exchange challenges must be overcome. This article outlines a data model that maps newborn screening data elements associated with patient demographic information, birthing facilities, laboratories, result reporting, and follow-up care to the LOINC, SNOMED CT, ICD-10-CM, and HL7 healthcare standards. The described framework lays the foundation for the implementation of standardized electronic data exchange across newborn screening programs, leading to greater data interoperability. The use of this model can accelerate the implementation of electronic data exchange between healthcare providers and newborn screening programs, which would ultimately improve health outcomes for all newborns and standardize data exchange across programs.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…A review of the importance of timing in diagnosing and treating presymptomatic SMA patients identified through NBS was reported in 2021 with a recommendation for treatment by 14 days of life) [ 337 ]. Also in 2021, a data model was described that provides a foundation for implementing a standardized electronic data exchange across NBS programs that can accelerate implementation of electronic data exchange between healthcare providers and NBS programs ultimately improving health outcomes [ 338 ]. Two other reports in 2021 dealt with secondary screening testing: a report describing a scalable, exome sequencing-based next-generation sequencing (NGS) pipeline with a priori analysis restriction that can be universally applied to any NBS disorder [ 339 ]; and a report discussing how NGS can be used as a NBS secondary testing method, the importance of genomic variant repositories for the annotation and interpretation of variants and barriers to incorporation of NGS and bioinformatics into NBS systems [ 340 ].…”

Harmonization and standardization of data for a pan-European cohort on SARS- CoV-2 pandemic

“…In a similar approach, the development of a data model that includes mapping to SNOMED CT, LOINC, ICD-10, has been described for the Utah Newborn Screening (NBS) Program to improve the data exchange between healthcare providers and NBS programs. This leads to a reduced dependency on proprietary laboratory information systems 38 .…”

The Editor’s Choice for Issue 4, Volume 7

“…Moreover, two contributions from the Utah NBS program are also worth mentioning. One of these, by Jones et al [ 4 ], addresses a potential framework for the development of a shared data model for standardized electronic data exchange across NBS programs, and the other, by Ruiz-Schultz et al [ 5 ], presents a potential blueprint for a shared bioinformatics platform as more next-generation sequencing (NGS) is adopted for second-tier testing in NBS.…”