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. 2015 May;22(3):621-7.
doi: 10.1093/jamia/ocu012. Epub 2015 Feb 5.

Supporting Interoperability of Genetic Data With LOINC

Free PMC article

Supporting Interoperability of Genetic Data With LOINC

Jamalynne Deckard et al. J Am Med Inform Assoc. .
Free PMC article


Electronic reporting of genetic testing results is increasing, but they are often represented in diverse formats and naming conventions. Logical Observation Identifiers Names and Codes (LOINC) is a vocabulary standard that provides universal identifiers for laboratory tests and clinical observations. In genetics, LOINC provides codes to improve interoperability in the midst of reporting style transition, including codes for cytogenetic or mutation analysis tests, specific chromosomal alteration or mutation testing, and fully structured discrete genetic test reporting. LOINC terms follow the recommendations and nomenclature of other standards such as the Human Genome Organization Gene Nomenclature Committee's terminology for gene names. In addition to the narrative text they report now, we recommend that laboratories always report as discrete variables chromosome analysis results, genetic variation(s) found, and genetic variation(s) tested for. By adopting and implementing data standards like LOINC, information systems can help care providers and researchers unlock the potential of genetic information for delivering more personalized care.

Keywords: Clinical laboratory information systems; Genetics; LOINC; Medical records systems; Vocabulary; controlled.


Figure 1:
Figure 1:
Genetic analysis master panel.
Figure 2:
Figure 2:
Chromosome analysis microarray copy number change panel, included within the Chromosome analysis master panel (62389-2) (not shown here).

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