Development and validation of an electronic phenotyping algorithm for chronic kidney disease

Twenty-six million Americans are estimated to have chronic kidney disease (CKD) with increased risk for cardiovascular disease and end stage renal disease. CKD is frequently undiagnosed and patients are unaware, hampering intervention. A tool for accurate and timely identification of CKD from electronic medical records (EMR) could improve healthcare quality and identify patients for research. As members of eMERGE (electronic medical records and genomics) Network, we developed an automated phenotyping algorithm that can be deployed to identify rapidly diabetic and/or hypertensive CKD cases and controls in health systems with EMRs It uses diagnostic codes, laboratory results, medication and blood pressure records, and textual information culled from notes. Validation statistics demonstrated positive predictive values of 96% and negative predictive values of 93.3. Similar results were obtained on implementation by two independent eMERGE member institutions. The algorithm dramatically outperformed identification by ICD-9-CM codes with 63% positive and 54% negative predictive values, respectively.

[1]  M. Woodward,et al.  Association of estimated glomerular filtration rate and albuminuria with all-cause and cardiovascular mortality in general population cohorts: a collaborative meta-analysis , 2010, The Lancet.

[2]  D. Blumenthal,et al.  The "meaningful use" regulation for electronic health records. , 2010, The New England journal of medicine.

[3]  Yang Qiu,et al.  Access to health care among adults evaluated for CKD: findings from the Kidney Early Evaluation Program (KEEP). , 2012, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[4]  Nam-Ho Kim,et al.  Early Referral to a Nephrologist Improved Patient Survival: Prospective Cohort Study for End-Stage Renal Disease in Korea , 2013, PloS one.

[5]  D. Holdstock Past, present--and future? , 2005, Medicine, conflict, and survival.

[6]  David B Matchar,et al.  Relationship between nephrologist care and progression of chronic kidney disease. , 2007, North Carolina medical journal.

[7]  D. Roden,et al.  Development of a Large‐Scale De‐Identified DNA Biobank to Enable Personalized Medicine , 2008, Clinical pharmacology and therapeutics.

[8]  C. Gullion,et al.  Longitudinal follow-up and outcomes among a population with chronic kidney disease in a large managed care organization. , 2004, Archives of internal medicine.

[9]  Barry I. Freedman,et al.  APOL1 risk variants, race, and progression of chronic kidney disease. , 2013, The New England journal of medicine.

[10]  Zhongxin Zhang,et al.  Risk scores for predicting outcomes in patients with type 2 diabetes and nephropathy: the RENAAL study. , 2006, Clinical journal of the American Society of Nephrology : CJASN.

[11]  Marylyn D. Ritchie,et al.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations , 2010, Bioinform..

[12]  Iddo Z. Ben-Dov,et al.  Intensive blood-pressure control in hypertensive chronic kidney disease. , 2010, The New England journal of medicine.

[13]  David W. Baker,et al.  Use of electronic health record data to evaluate overuse of cervical cancer screening , 2012, J. Am. Medical Informatics Assoc..

[14]  Melissa A. Basford,et al.  The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future , 2013, Genetics in Medicine.

[15]  C. Schmid,et al.  A new equation to estimate glomerular filtration rate. , 2009, Annals of internal medicine.

[16]  Suzette J. Bielinski,et al.  Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study , 2012, J. Am. Medical Informatics Assoc..

[17]  Yurii S. Aulchenko,et al.  Multiple loci associated with indices of renal function and chronic kidney disease , 2009, Nature Genetics.

[18]  Josef Coresh,et al.  Chronic kidney disease , 2012, The Lancet.

[19]  Joshua Jones,et al.  Detecting pregnancy use of non-hormonal category X medications in electronic medical records , 2011, J. Am. Medical Informatics Assoc..

[20]  Catherine A. McCarty,et al.  Informed Consent and Subject Motivation to Participate in a Large, Population-Based Genomics Study: The Marshfield Clinic Personalized Medicine Research Project , 2006, Public Health Genomics.

[21]  J. Denny,et al.  Naïve Electronic Health Record phenotype identification for Rheumatoid arthritis. , 2011, AMIA ... Annual Symposium proceedings. AMIA Symposium.

[22]  Stephen B. Johnson,et al.  A review of approaches to identifying patient phenotype cohorts using electronic health records , 2013, J. Am. Medical Informatics Assoc..

[23]  Ben Shneiderman,et al.  Applications and implications , 1999 .

[24]  Josef Coresh,et al.  Conceptual model of CKD: applications and implications. , 2009, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[25]  Mark Woodward,et al.  Lower estimated GFR and higher albuminuria are associated with adverse kidney outcomes. A collaborative meta-analysis of general and high-risk population cohorts. , 2011, Kidney international.

[26]  B. Gage,et al.  Accuracy of ICD-9-CM Codes for Identifying Cardiovascular and Stroke Risk Factors , 2005, Medical care.