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. 2017 Apr 1;24(e1):e121-e128.
doi: 10.1093/jamia/ocw123.

Assessing electronic health record phenotypes against gold-standard diagnostic criteria for diabetes mellitus

Susan E Spratt  1 , Katherine Pereira  2 , Bradi B Granger  2 , Bryan C Batch  1 , Matthew Phelan  3 , Michael Pencina  3   4 , Marie Lynn Miranda  5 , Ebony Boulware  1 , Joseph E Lucas  6 , Charlotte L Nelson  3 , Benjamin Neely  3 , Benjamin A Goldstein  3   4 , Pamela Barth  7 , Rachel L Richesson  2 , Isaretta L Riley  1 , Leonor Corsino  1 , Eugenia R McPeek Hinz  1 , Shelley Rusincovitch  7 , Jennifer Green  1 , Anna Beth Barton  1 ; DDC Phenotype Group; Carly Kelley, Kristen Hyland, Monica Tang, Amanda Elliott, Ewa Ruel, Alexander Clark, Melanie Mabrey, Kay Lyn Morrissey, Jyothi Rao, Beatrice Hong, Marjorie Pierre-Louis, Katherine Kelly, Nicole Jelesoff
Affiliations

Assessing electronic health record phenotypes against gold-standard diagnostic criteria for diabetes mellitus

Susan E Spratt et al. J Am Med Inform Assoc. .

Abstract

Objective: We assessed the sensitivity and specificity of 8 electronic health record (EHR)-based phenotypes for diabetes mellitus against gold-standard American Diabetes Association (ADA) diagnostic criteria via chart review by clinical experts.

Materials and methods: We identified EHR-based diabetes phenotype definitions that were developed for various purposes by a variety of users, including academic medical centers, Medicare, the New York City Health Department, and pharmacy benefit managers. We applied these definitions to a sample of 173 503 patients with records in the Duke Health System Enterprise Data Warehouse and at least 1 visit over a 5-year period (2007-2011). Of these patients, 22 679 (13%) met the criteria of 1 or more of the selected diabetes phenotype definitions. A statistically balanced sample of these patients was selected for chart review by clinical experts to determine the presence or absence of type 2 diabetes in the sample.

Results: The sensitivity (62-94%) and specificity (95-99%) of EHR-based type 2 diabetes phenotypes (compared with the gold standard ADA criteria via chart review) varied depending on the component criteria and timing of observations and measurements.

Discussion and conclusions: Researchers using EHR-based phenotype definitions should clearly specify the characteristics that comprise the definition, variations of ADA criteria, and how different phenotype definitions and components impact the patient populations retrieved and the intended application. Careful attention to phenotype definitions is critical if the promise of leveraging EHR data to improve individual and population health is to be fulfilled.

Keywords: EHR phenotypes; diabetes identification; diabetes registries.

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Figures

Figure 1.
Figure 1.
Sensitivity and specificity of diabetes phenotypes. ICD_250, International Classification of Diseases, Ninth Revision, code 250.xx; CCW, expanded ICD-9 codes; A1c, abnormal A1c, based on New York City Health Department A1c Registry; Med, DM medication, based on pharmacy benefit manager data; DDC, Durham Diabetes Coalition; SUPREME DM or Sup-DM, Surveillance, Prevention, and Management of Diabetes Mellitus; eMERGE NW or NW, electronic medical records and genomics; A1c_Med, abnormal A1c + DM medication.
See this image and copyright information in PMC

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