title: Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive 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 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.
authors: Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors: L J
authors: LJ
authors: Rasmussen-Torvik
authors: Vanderbilt Institute for Clinical and Translational Research, Nashville, Tennessee, USA.
authors: S C
authors: SC
authors: Stallings
authors: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors: A S
authors: AS
authors: Gordon
authors: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
authors: B
authors: B
authors: Almoguera
authors: Vanderbilt Institute for Clinical and Translational Research, Nashville, Tennessee, USA.
authors: M A
authors: MA
authors: Basford
authors: Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
authors: S J
authors: SJ
authors: Bielinski
authors: Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
authors: A
authors: A
authors: Brautbar
authors: Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
authors: M H
authors: MH
authors: Brilliant
authors: Group Health Research Institute, Seattle, Washington, USA.
authors: D S
authors: DS
authors: Carrell
authors: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
authors: J J
authors: JJ
authors: Connolly
authors: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors: D R
authors: DR
authors: Crosslin
authors: Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors: K F
authors: KF
authors: Doheny
authors: Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
authors: C J
authors: CJ
authors: Gallego
authors: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors: O
authors: O
authors: Gottesman
authors: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors: D S
authors: DS
authors: Kim
authors: Group Health Research Institute, Seattle, Washington, USA.
authors: K A
authors: KA
authors: Leppig
authors: Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
authors: R
authors: R
authors: Li
authors: Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
authors: S
authors: S
authors: Lin
authors: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
authors: S
authors: S
authors: Manzi
authors: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors: A R
authors: AR
authors: Mejia
authors: Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors: J A
authors: JA
authors: Pacheco
authors: Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors: V
authors: V
authors: Pan
authors: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
authors: J
authors: J
authors: Pathak
authors: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
authors: C L
authors: CL
authors: Perry
authors: Department of Biomedical Informatics and Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
authors: J F
authors: JF
authors: Peterson
authors: 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.
authors: C A
authors: CA
authors: Prows
authors: Group Health Research Institute, Seattle, Washington, USA.
authors: J
authors: J
authors: Ralston
authors: Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors: L V
authors: LV
authors: Rasmussen
authors: Department of Biochemistry and Molecular Biology, The Pennsylvania State University, State College, Pennsylvania, USA.
authors: M D
authors: MD
authors: Ritchie
authors: 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.
authors: S
authors: S
authors: Sadhasivam
authors: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors: S A
authors: SA
authors: Scott
authors: Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors: M
authors: M
authors: Smith
authors: Mount Sinai Faculty Practice Associates Primary Care Program, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors: A
authors: A
authors: Vega
authors: 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.
authors: A A
authors: AA
authors: Vinks
authors: Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
authors: S
authors: S
authors: Volpi
authors: 1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA [2] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
authors: W A
authors: WA
authors: Wolf
authors: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors: E
authors: E
authors: Bottinger
authors: Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
authors: R L
authors: RL
authors: Chisholm
authors: Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
authors: C G
authors: CG
authors: Chute
authors: Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
authors: J L
authors: JL
authors: Haines
authors: 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.
authors: J B
authors: JB
authors: Harley
authors: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
authors: B
authors: B
authors: Keating
authors: 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.
authors: I A
authors: IA
authors: Holm
authors: Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
authors: I J
authors: IJ
authors: Kullo
authors: Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
authors: G P
authors: GP
authors: Jarvik
authors: Group Health Research Institute, Seattle, Washington, USA.
authors: E B
authors: EB
authors: Larson
authors: Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
authors: T
authors: T
authors: Manolio
authors: Essentia Institute of Rural Health, Duluth, Minnesota, USA.
authors: C A
authors: CA
authors: McCarty
authors: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors: D A
authors: DA
authors: Nickerson
authors: Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
authors: S E
authors: SE
authors: Scherer
authors: Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
authors: M S
authors: MS
authors: Williams
authors: 1] Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA [2] Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
authors: D M
authors: DM
authors: Roden
authors: 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.
authors: J C
authors: JC
authors: Denny
mesh_terms: D000293:Adolescent; D000368:Aged; D002648:Child; D030541:Databases, Genetic; D004358:Drug Therapy; D057286:Electronic Health Records / Q000458:organization & administration*; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D051188:Knowledge Bases; D008297:Male; D008875:Middle Aged; D010597:Pharmacogenetics; D010641:Phenotype; D010865:Pilot Projects; D017422:Sequence Analysis, DNA; D055815:Young Adult