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      Toward cross‐platform electronic health record‐driven phenotyping using Clinical Quality Language

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          Abstract

          Introduction

          Electronic health record (EHR)‐driven phenotyping is a critical first step in generating biomedical knowledge from EHR data. Despite recent progress, current phenotyping approaches are manual, time‐consuming, error‐prone, and platform‐specific. This results in duplication of effort and highly variable results across systems and institutions, and is not scalable or portable. In this work, we investigate how the nascent Clinical Quality Language (CQL) can address these issues and enable high‐throughput, cross‐platform phenotyping.

          Methods

          We selected a clinically validated heart failure (HF) phenotype definition and translated it into CQL, then developed a CQL execution engine to integrate with the Observational Health Data Sciences and Informatics (OHDSI) platform. We executed the phenotype definition at two large academic medical centers, Northwestern Medicine and Weill Cornell Medicine, and conducted results verification (n = 100) to determine precision and recall. We additionally executed the same phenotype definition against two different data platforms, OHDSI and Fast Healthcare Interoperability Resources (FHIR), using the same underlying dataset and compared the results.

          Results

          CQL is expressive enough to represent the HF phenotype definition, including Boolean and aggregate operators, and temporal relationships between data elements. The language design also enabled the implementation of a custom execution engine with relative ease, and results verification at both sites revealed that precision and recall were both 100%. Cross‐platform execution resulted in identical patient cohorts generated by both data platforms.

          Conclusions

          CQL supports the representation of arbitrarily complex phenotype definitions, and our execution engine implementation demonstrated cross‐platform execution against two widely used clinical data platforms. The language thus has the potential to help address current limitations with portability in EHR‐driven phenotyping and scale in learning health systems.

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          Most cited references29

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          Heart Disease and Stroke Statistics—2019 Update: A Report From the American Heart Association

          Circulation, 139(10)
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            Serving the enterprise and beyond with informatics for integrating biology and the bedside (i2b2).

            Informatics for Integrating Biology and the Bedside (i2b2) is one of seven projects sponsored by the NIH Roadmap National Centers for Biomedical Computing (http://www.ncbcs.org). Its mission is to provide clinical investigators with the tools necessary to integrate medical record and clinical research data in the genomics age, a software suite to construct and integrate the modern clinical research chart. i2b2 software may be used by an enterprise's research community to find sets of interesting patients from electronic patient medical record data, while preserving patient privacy through a query tool interface. Project-specific mini-databases ("data marts") can be created from these sets to make highly detailed data available on these specific patients to the investigators on the i2b2 platform, as reviewed and restricted by the Institutional Review Board. The current version of this software has been released into the public domain and is available at the URL: http://www.i2b2.org/software.
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              Observational Health Data Sciences and Informatics (OHDSI): Opportunities for Observational Researchers.

              The vision of creating accessible, reliable clinical evidence by accessing the clincial experience of hundreds of millions of patients across the globe is a reality. Observational Health Data Sciences and Informatics (OHDSI) has built on learnings from the Observational Medical Outcomes Partnership to turn methods research and insights into a suite of applications and exploration tools that move the field closer to the ultimate goal of generating evidence about all aspects of healthcare to serve the needs of patients, clinicians and all other decision-makers around the world.
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                Author and article information

                Contributors
                psbrandt@uw.edu
                Journal
                Learn Health Syst
                Learn Health Syst
                10.1002/(ISSN)2379-6146
                LRH2
                Learning Health Systems
                John Wiley and Sons Inc. (Hoboken )
                2379-6146
                25 June 2020
                October 2020
                : 4
                : 4 , Human Phenomics and the Learning Health System ( doiID: 10.1002/lrh2.v4.4 )
                : e10233
                Affiliations
                [ 1 ] Biomedical Informatics and Medical Education University of Washington Seattle Washington USA
                [ 2 ] Department of Health Sciences Research Mayo Clinic Rochester Minnesota USA
                [ 3 ] Feinberg School of Medicine Northwestern University Chicago Illinois USA
                [ 4 ] Information Technologies and Services Weill Cornell Medicine New York New York USA
                [ 5 ] Department of Population Health Sciences Weill Cornell Medicine New York New York USA
                Author notes
                [*] [* ] Correspondence

                Pascal S. Brandt, Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.

                Email: psbrandt@ 123456uw.edu

                Author information
                https://orcid.org/0000-0001-5116-0555
                https://orcid.org/0000-0001-5291-5198
                Article
                LRH210233
                10.1002/lrh2.10233
                7556419
                33083538
                bd5c8f2f-ea7b-4e66-8ccb-4a6751f7c0ce
                © 2020 The Authors. Learning Health Systems published by Wiley Periodicals LLC on behalf of the University of Michigan.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                : 18 February 2020
                : 31 May 2020
                : 02 June 2020
                Page count
                Figures: 3, Tables: 0, Pages: 9, Words: 6194
                Funding
                Funded by: National Institutes of Health , open-funder-registry 10.13039/100000002;
                Award ID: R01GM105688
                Categories
                Research Report
                Research Reports
                Custom metadata
                2.0
                October 2020
                Converter:WILEY_ML3GV2_TO_JATSPMC version:5.9.2 mode:remove_FC converted:14.10.2020

                clinical quality language,common data models,electronic health records,phenotyping

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