Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

L J Rasmussen-Torvik¹, S C Stallings², A S Gordon³, B Almoguera⁴, M A Basford², S J Bielinski⁵, A Brautbar⁶, M H Brilliant⁶, D S Carrell⁷, J J Connolly⁴, D R Crosslin³, K F Doheny⁸, C J Gallego⁹, O Gottesman¹⁰, D S Kim³, K A Leppig⁷, R Li¹¹, S Lin¹², S Manzi¹³, A R Mejia¹⁰, J A Pacheco¹⁴, V Pan¹⁴, J Pathak¹⁵, C L Perry¹³, J F Peterson¹⁶, C A Prows¹⁷, J Ralston⁷, L V Rasmussen¹, M D Ritchie¹⁸, S Sadhasivam¹⁹, S A Scott²⁰, M Smith¹⁴, A Vega²¹, A A Vinks²², S Volpi¹¹, W A Wolf²³, E Bottinger¹⁰, R L Chisholm¹⁴, C G Chute²⁴, J L Haines²⁵, J B Harley²⁶, B Keating⁴, I A Holm²⁷, I J Kullo²⁸, G P Jarvik⁹, E B Larson⁷, T Manolio¹¹, C A McCarty²⁹, D A Nickerson³, S E Scherer³⁰, M S Williams³¹, D M Roden³², J C Denny³³

Affiliations

¹ Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
² Vanderbilt Institute for Clinical and Translational Research, Nashville, Tennessee, USA.
³ Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
⁴ Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
⁵ Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
⁶ Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
⁷ Group Health Research Institute, Seattle, Washington, USA.
⁸ Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁹ Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
¹⁰ The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
¹¹ Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
¹² Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
¹³ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
¹⁴ Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
¹⁵ Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
¹⁶ Department of Biomedical Informatics and Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
¹⁷ 1] Division Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA [2] Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
¹⁸ Department of Biochemistry and Molecular Biology, The Pennsylvania State University, State College, Pennsylvania, USA.
¹⁹ 1] Department of Anesthesia, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA [2] Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
²⁰ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
²¹ Mount Sinai Faculty Practice Associates Primary Care Program, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
²² 1] Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA [2] Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
²³ 1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA [2] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
²⁴ Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
²⁵ Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
²⁶ 1] Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA [2] Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA [3] US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
²⁷ 1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA [2] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
²⁸ Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
²⁹ Essentia Institute of Rural Health, Duluth, Minnesota, USA.
³⁰ Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
³¹ Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
³² 1] Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA [2] Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
³³ 1] Department of Biomedical Informatics and Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA [2] Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.

PMID: 24960519
PMCID: PMC4169732
DOI: 10.1038/clpt.2014.137

Multicenter Study

Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

L J Rasmussen-Torvik et al. Clin Pharmacol Ther. 2014 Oct.

. 2014 Oct;96(4):482-9.

doi: 10.1038/clpt.2014.137. Epub 2014 Jun 24.

Authors

Affiliations

¹ Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
² Vanderbilt Institute for Clinical and Translational Research, Nashville, Tennessee, USA.
³ Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
⁴ Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
⁵ Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
⁶ Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
⁷ Group Health Research Institute, Seattle, Washington, USA.
⁸ Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁹ Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
¹⁰ The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
¹¹ Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
¹² Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
¹³ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
¹⁴ Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
¹⁵ Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
¹⁶ Department of Biomedical Informatics and Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
¹⁷ 1] Division Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA [2] Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
¹⁸ Department of Biochemistry and Molecular Biology, The Pennsylvania State University, State College, Pennsylvania, USA.
¹⁹ 1] Department of Anesthesia, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA [2] Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
²⁰ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
²¹ Mount Sinai Faculty Practice Associates Primary Care Program, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
²² 1] Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA [2] Division of Clinical Pharmacology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
²³ 1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA [2] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
²⁴ Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
²⁵ Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
²⁶ 1] Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA [2] Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA [3] US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
²⁷ 1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA [2] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
²⁸ Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
²⁹ Essentia Institute of Rural Health, Duluth, Minnesota, USA.
³⁰ Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
³¹ Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
³² 1] Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA [2] Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
³³ 1] Department of Biomedical Informatics and Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA [2] Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.

PMID: 24960519
PMCID: PMC4169732
DOI: 10.1038/clpt.2014.137

Abstract

We describe here the design and initial implementation of the eMERGE-PGx project. eMERGE-PGx, a partnership of the Electronic Medical Records and Genomics Network and the Pharmacogenomics Research Network, has three objectives: (i) to 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- to 3-year time frame across several clinical sites; (ii) to integrate well-established clinically validated pharmacogenetic genotypes into the electronic health record with associated clinical decision support and to assess process and clinical outcomes of implementation; and (iii) to develop a repository of pharmacogenetic variants of unknown significance linked to a repository of electronic health record-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 managing incidental findings, and patient and clinician education methods.

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Conflict of interest statement

Conflict of Interest

A.A.V.--Intellectual Property/Royalty Income: Cinncinnati Childrens’ Hospital and Medical Center holds a license agreement on a pharmacogenetics interpretation algorithm. I am an inventor, and I have received royalties from the company to which this has been licensed; E.B--Intellectual Property/Shareholder: I am a co-inventor of web-enabled technology for collecting and utilizing healthcare data, and I hold shares in a company that is licensing this technology from Mount Sinai School of Medicine; E.B.L. I receive royalties from UpToDate from authoring several sections.

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References

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Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

Affiliations

Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Molecular Biology Databases