title: Supporting interoperability of genetic data with LOINC.
abstract: 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.
authors: Regenstrief Institute, Inc, Indianapolis, Indiana, USA jkdeckar@regenstrief.org.
authors: Jamalynne
authors: J
authors: Deckard
authors: Lister Hill National Center for Biomedical Communications, National Library of Medicine, National Institutes of Health, Bethesda, Maryland, USA.
authors: Clement J
authors: CJ
authors: McDonald
authors: Regenstrief Institute, Inc, Indianapolis, Indiana, USA Indiana University School of Medicine, Indianapolis, Indiana, USA.
authors: Daniel J
authors: DJ
authors: Vreeman
mesh_terms: D059019:Clinical Coding; D002984:Clinical Laboratory Information Systems; D030342:Genetic Diseases, Inborn / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D005821:Genetic Techniques / Q000145:classification*; D005820:Genetic Testing; D006801:Humans; D007753:Laboratories; D039703:Logical Observation Identifiers Names and Codes
keywords: Clinical laboratory information systems; Genetics; LOINC; Medical records systems; Vocabulary; controlled
references: Fed Regist. 2012 Sep 4;77(171):54163-292
references: 22946139
references: Stud Health Technol Inform. 2001;84(Pt 1):94-8
references: 11604713
references: Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5
references: 24234437
references: AMIA Annu Symp Proc. 2005;:769-73
references: 16779144
references: Curr Protoc Hum Genet. 2008 Apr;Chapter 10:Unit 10.11
references: 18428421
references: AMIA Annu Symp Proc. 2009 Nov 14;2009:239-43
references: 20351857
references: Hum Genomics. 2010 Apr;4(4):278-81
references: 20511141
references: Nucleic Acids Res. 2001 Jan 1;29(1):308-11
references: 11125122
references: Pharmacogenetics. 2000 Jun;10(4):279-90
references: 10862518
references: Clin Pharmacol Ther. 2007 Sep;82(3):244-8
references: 17700589
references: J Biomed Inform. 2007 Feb;40(1):44-6
references: 16616698
references: Fed Regist. 2012 Sep 4;77(171):53967-4162
references: 22946138
references: J Am Med Inform Assoc. 2009 May-Jun;16(3):395-9
references: 19261945
references: Int J Funct Inform Personal Med. 2010;3(4):273-291
references: 22899966
references: Cytogenet Genome Res. 2013;141(1):1-6
references: 23817294
references: Genet Med. 2013 Oct;15(10):772-8
references: 24071798
references: Nucleic Acids Res. 2013 Jan;41(Database issue):D925-35
references: 23193275
references: Hum Mutat. 2000;15(1):7-12
references: 10612815
references: Genet Med. 2013 Oct;15(10):757-60
references: 24097178
references: Clin Chem. 2003 Apr;49(4):624-33
references: 12651816
references: Child Dev. 2013 Jan-Feb;84(1):121-32
references: 23311723
references: J Am Med Inform Assoc. 2014 Jan-Feb;21(1):171-80
references: 23771953
references: Genet Med. 2013 Oct;15(10):802-9
references: 24008998
references: J Am Med Inform Assoc. 2012 Jul-Aug;19(4):570-4
references: 22511017
references: Sci Transl Med. 2011 Apr 20;3(79):79re1
references: 21508311
references: J Biomed Inform. 2012 Aug;45(4):667-73
references: 22285984
references: Nature. 2011 Feb 10;470(7333):204-13
references: 21307933
references: Hum Mutat. 2011 May;32(5):512-6
references: 21309042
references: Methods Inf Med. 1998 Nov;37(4-5):394-403
references: 9865037