Ben O Petrazzini1, Kumardeep Chaudhary2, Carla Márquez-Luna2, Iain S Forrest3, Ghislain Rocheleau2, Judy Cho4, Jagat Narula5, Girish Nadkarni6, Ron Do7. 1. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address: https://twitter.com/OmegaPetrazzini. 2. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. 3. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Medical Scientist Training Program, Icahn School of Medicine at Mount Sinai, New York, New York, USA. 4. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA. 5. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA. 6. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; The Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, New York, USA. 7. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address: ron.do@mssm.edu.
Abstract
BACKGROUND: Clinical features from electronic health records (EHRs) can be used to build a complementary tool to predict coronary artery disease (CAD) susceptibility. OBJECTIVES: The purpose of this study was to determine whether an EHR score can improve CAD prediction and reclassification 1 year before diagnosis, beyond conventional clinical guidelines as determined by the pooled cohort equations (PCE) and a polygenic risk score for CAD. METHODS: We applied a machine learning framework using clinical features from the EHR in a multiethnic, clinical care cohort (BioMe) comprising 555 CAD cases and 6,349 control subjects and in a population-based cohort (UK Biobank) comprising 3,130 CAD cases and 378,344 control subjects for external validation. RESULTS: Compared with the PCE, the EHR score improved CAD prediction by 12% in the BioMe Biobank and by 9% in the UK Biobank. The EHR score reclassified 25.8% and 15.2% individuals in each cohort respectively, compared with the PCE score. We observed larger improvements in the EHR score over the PCE in a subgroup of individuals with low CAD risk, with 20% increased discrimination and 34.4% increased reclassification. In all models, the polygenic risk score for CAD did not improve CAD prediction, compared with the PCE or EHR score. CONCLUSIONS: The EHR score resulted in increased prediction and reclassification for CAD, demonstrating its potential use for population health monitoring of short-term CAD risk in large health systems.
BACKGROUND: Clinical features from electronic health records (EHRs) can be used to build a complementary tool to predict coronary artery disease (CAD) susceptibility. OBJECTIVES: The purpose of this study was to determine whether an EHR score can improve CAD prediction and reclassification 1 year before diagnosis, beyond conventional clinical guidelines as determined by the pooled cohort equations (PCE) and a polygenic risk score for CAD. METHODS: We applied a machine learning framework using clinical features from the EHR in a multiethnic, clinical care cohort (BioMe) comprising 555 CAD cases and 6,349 control subjects and in a population-based cohort (UK Biobank) comprising 3,130 CAD cases and 378,344 control subjects for external validation. RESULTS: Compared with the PCE, the EHR score improved CAD prediction by 12% in the BioMe Biobank and by 9% in the UK Biobank. The EHR score reclassified 25.8% and 15.2% individuals in each cohort respectively, compared with the PCE score. We observed larger improvements in the EHR score over the PCE in a subgroup of individuals with low CAD risk, with 20% increased discrimination and 34.4% increased reclassification. In all models, the polygenic risk score for CAD did not improve CAD prediction, compared with the PCE or EHR score. CONCLUSIONS: The EHR score resulted in increased prediction and reclassification for CAD, demonstrating its potential use for population health monitoring of short-term CAD risk in large health systems.
Authors: Neil J Stone; Jennifer G Robinson; Alice H Lichtenstein; C Noel Bairey Merz; Conrad B Blum; Robert H Eckel; Anne C Goldberg; David Gordon; Daniel Levy; Donald M Lloyd-Jones; Patrick McBride; J Sanford Schwartz; Susan T Shero; Sidney C Smith; Karol Watson; Peter W F Wilson Journal: J Am Coll Cardiol Date: 2013-11-12 Impact factor: 24.094
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