{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:29:52Z","timestamp":1770823792757,"version":"3.50.1"},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.1093\/jamia\/ocu012","type":"journal-article","created":{"date-parts":[[2015,2,6]],"date-time":"2015-02-06T03:58:49Z","timestamp":1423195129000},"page":"621-627","source":"Crossref","is-referenced-by-count":21,"title":["Supporting interoperability of genetic data with LOINC"],"prefix":"10.1093","volume":"22","author":[{"given":"Jamalynne","family":"Deckard","sequence":"first","affiliation":[{"name":"Regenstrief Institute, Inc, Indianapolis, Indiana, USA"}]},{"given":"Clement J","family":"McDonald","sequence":"additional","affiliation":[{"name":"Lister Hill National Center for Biomedical Communications, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA"}]},{"given":"Daniel J","family":"Vreeman","sequence":"additional","affiliation":[{"name":"Regenstrief Institute, Inc, Indianapolis, Indiana, USA"},{"name":"Indiana University School of Medicine, Indianapolis, Indiana, USA"}]}],"member":"286","published-online":{"date-parts":[[2015,2,5]]},"reference":[{"issue":"10","key":"2020110613020597100_ocu012-B1","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/gim.2013.102","article-title":"Integration of genomics into the electronic health record: mapping terra incognita","volume":"15","author":"Kannry","year":"2013","journal-title":"Genet Med"},{"issue":"7333","key":"2020110613020597100_ocu012-B2","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/nature09764","article-title":"Charting a course for genomic medicine from base pairs to bedside","volume":"470","author":"Green","year":"2011","journal-title":"Nature"},{"issue":"10","key":"2020110613020597100_ocu012-B3","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1038\/gim.2013.131","article-title":"Practical challenges in integrating genomic data into the electronic health record","volume":"15","author":"Kho","year":"2013","journal-title":"Genet Med"},{"issue":"5","key":"2020110613020597100_ocu012-B4","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/humu.21456","article-title":"Emerging landscape of genomics in the Electronic Health Record for personalized medicine","volume":"32","author":"Ullman-Cullere","year":"2011","journal-title":"Hum Mutat"},{"key":"2020110613020597100_ocu012-B5","article-title":"Clinical lab-test results","author":"US Department of Health and Human Services, Office of the National Coordinator for Health Information Technology"},{"key":"2020110613020597100_ocu012-B6"},{"issue":"1","key":"2020110613020597100_ocu012-B7","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.jbi.2006.02.010","article-title":"The genome-enabled electronic medical record","volume":"40","author":"Hoffman","year":"2007","journal-title":"J Biomed Inform"},{"issue":"10","key":"2020110613020597100_ocu012-B8","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1038\/gim.2013.121","article-title":"Some experiences and opportunities for big data in translational research","volume":"15","author":"Chute","year":"2013","journal-title":"Genet Med"},{"issue":"1","key":"2020110613020597100_ocu012-B9","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1136\/amiajnl-2013-001694","article-title":"Genetic data and electronic health records: a discussion of ethical, logistical and technological considerations","volume":"21","author":"Shoenbill","year":"2014","journal-title":"J Am Med Inform Assoc"},{"issue":"4","key":"2020110613020597100_ocu012-B10","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1373\/49.4.624","article-title":"LOINC, a universal standard for identifying laboratory observations: a 5-year update","volume":"49","author":"McDonald","year":"2003","journal-title":"Clin Chem"},{"issue":"Pt 1","key":"2020110613020597100_ocu012-B11","first-page":"94","article-title":"The creation of an ontology of clinical document names","volume":"84","author":"Frazier","year":"2001","journal-title":"Stud Health Technol Inform"},{"issue":"3","key":"2020110613020597100_ocu012-B12","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1197\/jamia.M2821","article-title":"Iterative evaluation of the Health Level 7\u2013Logical Observation Identifiers Names and Codes Clinical Document Ontology for representing clinical document names: a case report","volume":"16","author":"Hyun","year":"2009","journal-title":"J Am Med Inform Assoc"},{"key":"2020110613020597100_ocu012-B13","first-page":"769","article-title":"Automated mapping of local radiology terms to LOINC","volume":"2005","author":"Vreeman","year":"2005","journal-title":"AMIA Annu Symp Proc"},{"key":"2020110613020597100_ocu012-B14","volume-title":"LOINC"},{"issue":"4","key":"2020110613020597100_ocu012-B15","first-page":"273","article-title":"LOINC\u00ae - A universal catalog of individual clinical observations and uniform representation of enumerated collections","volume":"3","author":"Vreeman","year":"2010","journal-title":"Int J Funct Inform Personal Med"},{"issue":"171","key":"2020110613020597100_ocu012-B16","first-page":"53968","article-title":"Medicare and Medicaid programs; electronic health record incentive program\u2014stage 2","volume":"77","author":"US Department of Health, Human Services, Centers for Medicare & Medicaid Services","year":"2012","journal-title":"Fed Regist"},{"issue":"171","key":"2020110613020597100_ocu012-B17","first-page":"53972","article-title":"Health information technology: standards, implementation specifications, and certification criteria for electronic health record technology, 2014 edition; revisions to the permanent certification program for health information technology","volume":"77","author":"US Department of Health and Human Services, Office of the National Coordinator for Health Information Technology","year":"2012","journal-title":"Fed Regist"},{"key":"2020110613020597100_ocu012-B18","first-page":"239","article-title":"Evaluation of LOINC for representing constitutional cytogenetic test result reports","volume":"2009","author":"Heras","year":"2009","journal-title":"AMIA Annu Symp Proc"},{"issue":"4","key":"2020110613020597100_ocu012-B19","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.jbi.2012.01.005","article-title":"Enabling international adoption of LOINC through translation","volume":"45","author":"Vreeman","year":"2012","journal-title":"J Biomed Inform"},{"issue":"79","key":"2020110613020597100_ocu012-B20","doi-asserted-by":"crossref","first-page":"79re1","DOI":"10.1126\/scitranslmed.3001807","article-title":"Electronic medical records for genetic research: results of the eMERGE consortium","volume":"3","author":"Kho","year":"2011","journal-title":"Sci Transl Med"},{"issue":"D1","key":"2020110613020597100_ocu012-B21","doi-asserted-by":"crossref","first-page":"D925","DOI":"10.1093\/nar\/gks1173","article-title":"The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency","volume":"41","author":"Rubinstein","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"2020110613020597100_ocu012-B22","volume-title":"HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetics Model, Release 1 - US Realm","author":"Health Level Seven International (HL7)","year":"2014"},{"key":"2020110613020597100_ocu012-B23","volume-title":"HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Genetic Variation Model, Release 2","author":"Health Level Seven International (HL7)","year":"2013"},{"key":"2020110613020597100_ocu012-B24","author":"HUGO Nomenclature"},{"key":"2020110613020597100_ocu012-B25","first-page":"7","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume-title":"Hum Mutat","author":"Den Dunnen","year":"2000"},{"key":"2020110613020597100_ocu012-B26","article-title":"A critical window of opportunity to standardize genetic testing results","author":"Abhyankar"},{"issue":"4-5","key":"2020110613020597100_ocu012-B27","first-page":"394","article-title":"Desiderata for controlled medical vocabularies in the twenty-first century","volume":"37","author":"Cimino","year":"1998","journal-title":"Methods Inf Med"},{"issue":"4","key":"2020110613020597100_ocu012-B28","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1136\/amiajnl-2011-000621","article-title":"Genetic testing behavior and reporting patterns in electronic medical records for physicians trained in a primary care specialty or subspecialty","volume":"19","author":"Ronquillo","year":"2012","journal-title":"J Am Med Inform Assoc"},{"issue":"1","key":"2020110613020597100_ocu012-B29","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"2020110613020597100_ocu012-B30","author":"Shaffer","year":"2013","journal-title":"ISCN (2013): An International System for Human Cytogenetic Nomenclature"},{"key":"2020110613020597100_ocu012-B31","article-title":"Cytogenetic nomenclature: changes in the ISCN 2013 compared to the 2009 edition [published online ahead of print June 28, 2013]","author":"Simons","journal-title":"Cytogenet Genome Res"},{"issue":"D1","key":"2020110613020597100_ocu012-B32","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"2020110613020597100_ocu012-B33","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg1011s57","article-title":"The Catalogue of Somatic Mutations in Cancer (COSMIC)","author":"Forbes","year":"2008","journal-title":"Curr Protoc Hum Genet"},{"issue":"4","key":"2020110613020597100_ocu012-B34","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1097\/00008571-200006000-00001","article-title":"Suggestions for the nomenclature of human alleles: relevance to ecogenetics, pharmacogenetics and molecular epidemiology","volume":"10","author":"Nebert","year":"2000","journal-title":"Pharmacogenetics"},{"issue":"3","key":"2020110613020597100_ocu012-B35","first-page":"244","article-title":"The Star-Allele nomenclature: retooling for translational genomics","volume":"82","author":"Robarge","year":"2007"},{"issue":"4","key":"2020110613020597100_ocu012-B36","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1186\/1479-7364-4-4-278","article-title":"The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects","volume":"4","author":"Sim","year":"2010","journal-title":"Hum Genomics"},{"key":"2020110613020597100_ocu012-B37","volume-title":"Logical Observation Identifiers Names and Codes (LOINC\u00ae) Users\u2019 Guide","author":"McDonald","year":"2014"},{"issue":"1","key":"2020110613020597100_ocu012-B38","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/cdev.12050","article-title":"The utility of chromosomal microarray analysis in developmental and behavioral pediatrics","volume":"84","author":"Beaudet","year":"2013","journal-title":"Child Dev"}],"container-title":["Journal of the American Medical Informatics Association"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jamia\/article-pdf\/22\/3\/621\/34145556\/ocu012.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jamia\/article-pdf\/22\/3\/621\/34145556\/ocu012.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,6]],"date-time":"2020-11-06T18:53:02Z","timestamp":1604688782000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jamia\/article\/22\/3\/621\/773317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,5]]},"references-count":38,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,2,5]]},"published-print":{"date-parts":[[2015,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/jamia\/ocu012","relation":{},"ISSN":["1527-974X","1067-5027"],"issn-type":[{"value":"1527-974X","type":"electronic"},{"value":"1067-5027","type":"print"}],"subject":[],"published-other":{"date-parts":[[2015,5]]},"published":{"date-parts":[[2015,2,5]]}}}