A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and electronic health record environments

Author:

Pacheco Jennifer A1,Rasmussen Luke V2,Kiefer Richard C3,Campion Thomas R4,Speltz Peter5,Carroll Robert J5,Stallings Sarah C6,Mo Huan7,Ahuja Monika4,Jiang Guoqian3,LaRose Eric R8,Peissig Peggy L8,Shang Ning9,Benoit Barbara10,Gainer Vivian S10,Borthwick Kenneth11,Jackson Kathryn L12,Sharma Ambrish12,Wu Andy Yizhou12,Kho Abel N12,Roden Dan M1314,Pathak Jyotishman4,Denny Joshua C513,Thompson William K12

Affiliation:

1. Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA

2. Division of Health and Biomedical Informatics, Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA

3. Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA

4. Department of Healthcare Policy and Research, Weill Cornell Medicine, New York, New York, USA

5. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA

6. Meharry-Vanderbilt Alliance, Vanderbilt University Medical Center, Nashville, Tennessee, USA

7. Department of Pathology, Loma Linda University Health, Loma Linda, California, USA

8. Department of Biomedical Informatics, Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA

9. Department of Biomedical Informatics, Columbia University, New York, New York, USA

10. Research IS and Computing, Partners HealthCare, Harvard University, Somerville, Massachusetts, USA

11. Henry Hood Center for Health Research, Geisinger, Danville, Pennsylvania, USA

12. Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA

13. Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA

14. Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA

Abstract

Abstract Electronic health record (EHR) algorithms for defining patient cohorts are commonly shared as free-text descriptions that require human intervention both to interpret and implement. We developed the Phenotype Execution and Modeling Architecture (PhEMA, http://projectphema.org) to author and execute standardized computable phenotype algorithms. With PhEMA, we converted an algorithm for benign prostatic hyperplasia, developed for the electronic Medical Records and Genomics network (eMERGE), into a standards-based computable format. Eight sites (7 within eMERGE) received the computable algorithm, and 6 successfully executed it against local data warehouses and/or i2b2 instances. Blinded random chart review of cases selected by the computable algorithm shows PPV ≥90%, and 3 out of 5 sites had >90% overlap of selected cases when comparing the computable algorithm to their original eMERGE implementation. This case study demonstrates potential use of PhEMA computable representations to automate phenotyping across different EHR systems, but also highlights some ongoing challenges.

Funder

NIH

NHGRI

Group Health Cooperative

University of Washington

Vanderbilt University Medical Center

Mayo Clinic

Geisinger Clinic

Columbia University Health Sciences

Northwestern University

Partners Healthcare

Broad Institute

W.R. Wiley Environmental Molecular Science Laboratory

U.S. Department of Energy's Office of Biological and Environmental Research

Battelle Memorial Institute

U.S. Department of Energy

Publisher

Oxford University Press (OUP)

Subject

Health Informatics

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