domingo, 24 de agosto de 2014

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



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 Prows17,23, J Ralston7, L V Rasmussen1, M D Ritchie18, S Sadhasivam19,20, S A Scott21, M Smith14, A Vega22, A A Vinks20,23, S Volpi11, W A Wolf13,24, E Bottinger10, R L Chisholm14, C G Chute25, J L Haines26, J B Harley20,27,28, B Keating4, I A Holm13,24,29, 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 Roden34,35 and J C Denny16,35
  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.

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