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Validation of electronic health record phenotyping of bipolar disorder cases and controls

Castro, Victor M., Minnier, Jessica, Murphy, Shawn N., Kohane, Isaac, Churchill, Susanne E., Gainer, Vivian, Cai, Tianxi, Hoffnagle, Alison G., Dai, Yael, Block, Stefanie, Weill, Sydney R., Nadal-Vicens, Mireya, Pollastri, Alisha R., Rosenquist, J. Niels, Goryachev, Sergey, Ongur, Dost, Sklar, Pamela, Perlis, Roy H., Smoller, Jordan W., Lee, Phil Hyoun, Stahl, Eli A., Purcell, Shaun M., Ruderfer, Douglas M., Charney, Alexander W., Roussos, Panos, Pato, Carlos, Pato, Michele, Medeiros, Helen, Sobel, Janet, Craddock, Nick ORCID:, Jones, Ian ORCID:, Forty, Liz, Di Florio, Arianna ORCID:, Green, Elaine, Jones, Lisa ORCID:, Dunjewski, Katherine, Landén, Mikael, Hultman, Christina, Juréus, Anders, Bergen, Sarah, Svantesson, Oscar, McCarroll, Steven, Moran, Jennifer, Chambert, Kimberly and Belliveau, Richard A. 2015. Validation of electronic health record phenotyping of bipolar disorder cases and controls. American Journal of Psychiatry 172 (4) , pp. 363-372. 10.1176/appi.ajp.2014.14030423

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OBJECTIVE: The study was designed to validate use of electronic health records (EHRs) for diagnosing bipolar disorder and classifying control subjects. METHOD: EHR data were obtained from a health care system of more than 4.6 million patients spanning more than 20 years. Experienced clinicians reviewed charts to identify text features and coded data consistent or inconsistent with a diagnosis of bipolar disorder. Natural language processing was used to train a diagnostic algorithm with 95% specificity for classifying bipolar disorder. Filtered coded data were used to derive three additional classification rules for case subjects and one for control subjects. The positive predictive value (PPV) of EHR-based bipolar disorder and subphenotype diagnoses was calculated against diagnoses from direct semistructured interviews of 190 patients by trained clinicians blind to EHR diagnosis. RESULTS: The PPV of bipolar disorder defined by natural language processing was 0.85. Coded classification based on strict filtering achieved a value of 0.79, but classifications based on less stringent criteria performed less well. No EHR-classified control subject received a diagnosis of bipolar disorder on the basis of direct interview (PPV=1.0). For most subphenotypes, values exceeded 0.80. The EHR-based classifications were used to accrue 4,500 bipolar disorder cases and 5,000 controls for genetic analyses. CONCLUSIONS: Semiautomated mining of EHRs can be used to ascertain bipolar disorder patients and control subjects with high specificity and predictive value compared with diagnostic interviews. EHRs provide a powerful resource for high-throughput phenotyping for genetic and clinical research.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Additional Information: International Cohort Collection for Bipolar Disorder Consortium
Publisher: American Psychiatric Publishing
ISSN: 0002-953X
Date of Acceptance: 19 September 2014
Last Modified: 01 Nov 2022 09:37

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