Clinical Pharmacology & Therapeutics - Abstract of article: Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems

Clinical Pharmacology & Therapeutics - Abstract of article: Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems

Pharmacogenomics

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. Clinical Pharmacology & Therapeutics, August 20, 2014

Clinical Pharmacology & Therapeutics advance online publication 20 August 2014; doi: 10.1038/clpt.2014.137

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 Prows^17,23, J Ralston⁷, L V Rasmussen¹, M D Ritchie¹⁸, S Sadhasivam^19,20, S A Scott²¹, M Smith¹⁴, A Vega²², A A Vinks^20,23, S Volpi¹¹, W A Wolf^13,24, E Bottinger¹⁰, R L Chisholm¹⁴, C G Chute²⁵, J L Haines²⁶, J B Harley^20,27,28, B Keating⁴, I A Holm^13,24,29, I J Kullo³⁰, G P Jarvik⁹, E B Larson⁷, T Manolio¹¹, C A McCarty³¹, D A Nickerson³, S E Scherer³², M S Williams³³, D M Roden^34,35 and J C Denny^16,35

1. ¹Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
2. ²Vanderbilt Institute for Clinical and Translational Research, Nashville, Tennessee, USA
3. ³Department of Genome Sciences, University of Washington, Seattle, Washington, USA
4. ⁴Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
5. ⁵Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
6. ⁶Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA
7. ⁷Group Health Research Institute, Seattle, Washington, USA
8. ⁸Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
9. ⁹Division of Medical Genetics, University of Washington, Seattle, Washington, USA
10. ¹⁰The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA
11. ¹¹Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA
12. ¹²Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA
13. ¹³Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA
14. ¹⁴Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
15. ¹⁵Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
16. ¹⁶Department of Biomedical Informatics and Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA
17. ¹⁷Division Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
18. ¹⁸Department of Biochemistry and Molecular Biology, The Pennsylvania State University, State College, Pennsylvania, USA
19. ¹⁹Department of Anesthesia, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
20. ²⁰Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA
21. ²¹Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA
22. ²²Mount Sinai Faculty Practice Associates Primary Care Program, Icahn School of Medicine at Mount Sinai, New York, New York, USA
23. ²³Division of Clinical Pharmacology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA
24. ²⁴Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA
25. ²⁵Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
26. ²⁶Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA
27. ²⁷Cincinnati Children’s Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA
28. ²⁸US Department of Veterans Affairs Medical Center, Cincinnati, Ohio, USA
29. ²⁹The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, USA
30. ³⁰Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA
31. ³¹Essentia Institute of Rural Health, Duluth, Minnesota, USA
32. ³²Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
33. ³³Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA
34. ³⁴Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
35. ³⁵Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA

Correspondence: L J Rasmussen-Torvik, (ljrtorvik@northwestern.edu)

Received 28 February 2014; Accepted 13 June 2014
Accepted article preview online 24 June 2014; Advance online publication 20 August 2014

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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.