Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems

Abstract

We describe here the design and initial implementation of the eMERGE-PGx project. eMERGE-PGx, a partnership of the eMERGE and PGRN consortia, has three objectives : 1) Deploy PGRNseq, a next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, in nearly 9,000 patients likely to be prescribed drugs of interest in a 1–3 year timeframe across several clinical sites; 2) Integrate well-established clinically-validated pharmacogenetic genotypes into the electronic health record with associated clinical decision support and assess process and clinical outcomes of implementation; and 3) Develop a repository of pharmacogenetic variants of unknown significance linked to a repository of EHR-based clinical phenotype data for ongoing pharmacogenomics discovery. We describe site-specific project implementation and anticipated products, including genetic variant and phenotype data repositories, novel variant association studies, clinical decision support modules, clinical and process outcomes, approaches to manage incidental findings, and patient and clinician education methods.

Journal

Journal ID (nlm-journal-id): 0372741

Journal ID (pubmed-jr-id): 3058

Journal ID (nlm-ta): Clin Pharmacol Ther

Journal ID (iso-abbrev): Clin. Pharmacol. Ther.

Title: Clinical pharmacology and therapeutics

ISSN (Print): 0009-9236

ISSN (Electronic): 1532-6535

Publication date Nihms-submitted: 24 June 2014

Publication date (Electronic): 24 June 2014

Publication date (Print): October 2014

Publication date PMC-release: 01 October 2015

Volume: 96

Issue: 4

Pages: 482-489

Affiliations

[1 ]Department of Preventive Medicine, Northwestern University Feinberg School of Medicine

[2 ]Vanderbilt Institute for Clinical and Translational Research

[3 ]Department of Genome Sciences, University of Washington

[4 ]Center for Applied Genomics, Children’s Hospital of Philadelphia

[5 ]Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic

[6 ]Center for Human Genetics, Marshfield Clinic Research Foundation

[7 ]Group Health Research Institute

[8 ]Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins University School of Medicine

[9 ]Division of Medical Genetics, University of Washington

[10 ]The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai

[11 ]Division of Genomic Medicine, National Human Genome Research Institute

[12 ]Biomedical Informatics Research Center, Marshfield Clinic Research Foundation

[13 ]Division of Genetics and Genomics, Boston Children’s Hospital

[14 ]Center for Genetic Medicine, Northwestern University Feinberg School of Medicine

[15 ]Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic

[16 ]Department of Biomedical Informatics and Medicine, Vanderbilt University Medical Center

[17 ]Division Human Genetics, Division Patient Services, Cincinnati Children’s Hospital Medical Center

[18 ]Department of Biochemistry and Molecular Biology, The Pennsylvania State University

[19 ]Department of Anesthesia, Cincinnati Children’s Hospital Medical Center

[20 ]Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai

[21 ]Mount Sinai Faculty Practice Associates Primary Care Program, Icahn School of Medicine at Mount Sinai

[22 ]Division of Clinical Pharmacology, Cincinnati Children’s Hospital Medical Center

[23 ]Department of Pediatrics, College of Medicine, University of Cincinnati

[24 ]Department of Pediatrics, Harvard Medical School

[25 ]Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905

[26 ]Center for Human Genetics Research, Vanderbilt University Medical Center

[27 ]Cincinnati Children’s Hospital Medical Center, University of Cincinnati

[28 ]US Department of Veterans Affairs Medical Center, Cincinnati, Ohio

[29 ]The Manton Center for Orphan Disease Research, Boston Children’s Hospital

[30 ]Division of Cardiovascular Diseases, Mayo Clinic

[31 ]Essentia Institute of Rural Health, Duluth, MN

[32 ]Human Genome Sequencing Center, Baylor College of Medicine

[33 ]Genomic Medicine Institute, Geisinger Health System

[34 ]Departments of Medicine and Pharmacology, Vanderbilt University School of Medicine

[35 ]Department of Medicine, Vanderbilt University School of Medicine

Author notes

Contact information: Dr. Laura Rasmussen-Torvik, PhD, MPH, Department of Preventive Medicine, 680 N. Lake Shore Drive, Suite 1400, Chicago, IL 60611, ljrtorvik@ 123456northwestern.edu , p. 312-503-3596, f. 312-908-9588

Article

Manuscript ID: NIHMS605974

DOI: 10.1038/clpt.2014.137

PMC ID: 4169732

PubMed ID: 24960519

Categories

Subject: Article