title: A comparison of phenotype definitions for diabetes mellitus.
abstract: OBJECTIVE
  This study compares the yield and characteristics of diabetes cohorts identified using heterogeneous phenotype definitions.
  
  
  METHODS
  Inclusion criteria from seven diabetes phenotype definitions were translated into query algorithms and applied to a population (n=173 503) of adult patients from Duke University Health System. The numbers of patients meeting criteria for each definition and component (diagnosis, diabetes-associated medications, and laboratory results) were compared.
  
  
  RESULTS
  Three phenotype definitions based heavily on ICD-9-CM codes identified 9-11% of the patient population. A broad definition for the Durham Diabetes Coalition included additional criteria and identified 13%. The electronic medical records and genomics, NYC A1c Registry, and diabetes-associated medications definitions, which have restricted or no ICD-9-CM criteria, identified the smallest proportions of patients (7%). The demographic characteristics for all seven phenotype definitions were similar (56-57% women, mean age range 56-57 years).The NYC A1c Registry definition had higher average patient encounters (54) than the other definitions (range 44-48) and the reference population (20) over the 5-year observation period. The concordance between populations returned by different phenotype definitions ranged from 50 to 86%. Overall, more patients met ICD-9-CM and laboratory criteria than medication criteria, but the number of patients that met abnormal laboratory criteria exclusively was greater than the numbers meeting diagnostic or medication data exclusively.
  
  
  CONCLUSIONS
  Differences across phenotype definitions can potentially affect their application in healthcare organizations and the subsequent interpretation of data.
  
  
  CONCLUSIONS
  Further research focused on defining the clinical characteristics of standard diabetes cohorts is important to identify appropriate phenotype definitions for health, policy, and research.
authors.affiliation: Duke University School of Nursing, Durham, North Carolina, USA.
authors.forename: Rachel L
authors.initials: RL
authors.lastname: Richesson
authors.forename: Shelley A
authors.initials: SA
authors.lastname: Rusincovitch
authors.forename: Douglas
authors.initials: D
authors.lastname: Wixted
authors.forename: Bryan C
authors.initials: BC
authors.lastname: Batch
authors.forename: Mark N
authors.initials: MN
authors.lastname: Feinglos
authors.forename: Marie Lynn
authors.initials: ML
authors.lastname: Miranda
authors.forename: W Ed
authors.initials: WE
authors.lastname: Hammond
authors.forename: Robert M
authors.initials: RM
authors.lastname: Califf
authors.forename: Susan E
authors.initials: SE
authors.lastname: Spratt
mesh_terms: D000328:Adult; D000465:Algorithms; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000628:therapy; D057286:Electronic Health Records; D005260:Female; D006801:Humans; D038801:International Classification of Diseases; D008297:Male; D008875:Middle Aged; D010641:Phenotype
keywords: Clinical Research; Diabetes; Electronic Health Records; Patient Registries; Phenotypes; Secondary Data Use
references.citation: BMC Med Genomics. 2011 Jan 26;4:13
references.pmid: 21269473
references.citation: J Am Med Inform Assoc. 2013 Jan 1;20(1):117-21
references.pmid: 22955496
references.citation: JAMA. 2002 Oct 16;288(15):1909-14
references.pmid: 12377092
references.citation: Sci Transl Med. 2011 Apr 20;3(79):79re1
references.pmid: 21508311
references.citation: N C Med J. 2011 Mar-Apr;72(2):132-5
references.pmid: 21721500
references.citation: Prev Chronic Dis. 2013 Apr 25;10:E66
references.pmid: 23618546
references.citation: JAMA. 1995 May 17;273(19):1503-8
references.pmid: 7739076
references.citation: JAMA. 2002 Oct 9;288(14):1775-9
references.pmid: 12365965
references.citation: Am J Med Qual. 1999 Nov-Dec;14(6):270-7
references.pmid: 10624032
references.citation: Health Care Financ Rev. 1995 Summer;16(4):189-99
references.pmid: 10151888
references.citation: J Natl Cancer Inst. 1999 Aug 18;91(16):1363
references.pmid: 10451440
references.citation: Am J Manag Care. 2004 Sep;10(9):643-8
references.pmid: 15515997
references.citation: Milbank Q. 2009 Sep;87(3):547-70
references.pmid: 19751279
references.citation: Diabetes Care. 2013 Jan;36 Suppl 1:S67-74
references.pmid: 23264425
references.citation: J Am Med Inform Assoc. 2012 Mar-Apr;19(2):219-24
references.pmid: 22249968
references.citation: Am J Epidemiol. 1997 Jul 1;146(1):12-22
references.pmid: 9215219
references.citation: Int J Med Inform. 2013 Apr;82(4):239-47
references.pmid: 22762862
references.citation: Prev Chronic Dis. 2012;9:E110
references.pmid: 22677160
references.citation: Methods Inf Med. 2011;50(2):105-14
references.pmid: 20725694
references.citation: J Am Med Inform Assoc. 2012 Mar-Apr;19(2):212-8
references.pmid: 22101970
references.citation: Health Serv Res. 2011 Oct;46(5):1610-27
references.pmid: 21649659