Deckard Jamalynne, McDonald Clement J, Vreeman Daniel J
Regenstrief Institute, Inc, Indianapolis, Indiana, USA
Lister Hill National Center for Biomedical Communications, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA.
J Am Med Inform Assoc. 2015 May;22(3):621-7. doi: 10.1093/jamia/ocu012. Epub 2015 Feb 5.
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.
基因检测结果的电子报告正在增加,但它们通常以各种格式和命名规范呈现。逻辑观察标识符名称和代码(LOINC)是一种词汇标准,为实验室检测和临床观察提供通用标识符。在遗传学中,LOINC提供代码以在报告风格转变过程中提高互操作性,包括细胞遗传学或突变分析检测的代码、特定染色体改变或突变检测的代码,以及完全结构化的离散基因检测报告。LOINC术语遵循其他标准的建议和命名法,如人类基因组组织基因命名委员会的基因名称术语。除了目前报告的叙述性文本外,我们建议实验室始终将染色体分析结果、发现的基因变异以及检测的基因变异作为离散变量进行报告。通过采用和实施像LOINC这样的数据标准,信息系统可以帮助医疗服务提供者和研究人员释放基因信息的潜力,以提供更个性化的护理。