Evidence map›Paper›PMID 24960519›Full record

ArticleClinical pharmacology and therapeutics2014

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

L J Rasmussen-Torvik, S C Stallings, A S Gordon, B Almoguera, M A Basford, S J Bielinski, A Brautbar, M H Brilliant, D S Carrell, J J Connolly and 43 more

Registry-linked trialAbstract readMulticenter Study
In one paragraph

Article in Clinical pharmacology and therapeutics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05277116 (The Electronic Medical Records and GEnomics), which is not on this map. Cited by 145 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
145citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05277116 naactive not recruitingnot on this mapstarted 2022, after this paper: background citation

The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment

TypeinterventionalSponsorVanderbilt University Medical CenterRan2022 to 2030Enrolled26,877ConditionsGenetic DiseaseArmsGenome Informed Risk Assessment (GIRA) report
3 · Its place in the literature

Who cites it

145 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Genetically guided precision medicine clinical decision support tools: a systematic review.Journal of the American Medical Informatics Association : JAMIA · 2024
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Trial
  6. Low-frequency variants at thePharmacogenomics · 2019
    Trial
  7. Trial
  8. Review
  9. Review
  10. Article
  11. Article
  12. Review
  13. Observational
  14. Article
  15. Review
  16. Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  17. Article
  18. Review
  19. Article
  20. Article

85 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

53 authors.

L J Rasmussen-TorvikDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
S C StallingsVanderbilt Institute for Clinical and Translational Research, Nashville, Tennessee, USA.
A S GordonDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
B AlmogueraCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
M A BasfordVanderbilt Institute for Clinical and Translational Research, Nashville, Tennessee, USA.
S J BielinskiDivision of Epidemiology, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
A BrautbarCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
M H BrilliantCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
D S CarrellGroup Health Research Institute, Seattle, Washington, USA.
J J ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
D R CrosslinDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
K F DohenyCenter for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
C J GallegoDivision of Medical Genetics, University of Washington, Seattle, Washington, USA.
O GottesmanThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
D S KimDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
K A LeppigGroup Health Research Institute, Seattle, Washington, USA.
R LiDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
S LinBiomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA.
S ManziDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
A R MejiaThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
J A PachecoCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
V PanCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
J PathakDivision of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
C L PerryDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
J F PetersonDepartment of Biomedical Informatics and Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
C A Prows1] 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.
J RalstonGroup Health Research Institute, Seattle, Washington, USA.
L V RasmussenDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
M D RitchieDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University, State College, Pennsylvania, USA.
S Sadhasivam1] 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.
S A ScottDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
M SmithCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
A VegaMount Sinai Faculty Practice Associates Primary Care Program, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
A A Vinks1] 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.
S VolpiDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
W A Wolf1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA [2] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
E BottingerThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
R L ChisholmCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
C G ChuteDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
J L HainesCenter for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
J B Harley1] 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.
B KeatingCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
I A Holm1] 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.
I J KulloDivision of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
G P JarvikDivision of Medical Genetics, University of Washington, Seattle, Washington, USA.
E B LarsonGroup Health Research Institute, Seattle, Washington, USA.
T ManolioDivision of Genomic Medicine, National Human Genome Research Institute, Bethesda, Maryland, USA.
C A McCartyEssentia Institute of Rural Health, Duluth, Minnesota, USA.
D A NickersonDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
S E SchererHuman Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
M S WilliamsGenomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
D M Roden1] Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA [2] Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
J C Denny1] 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.

Funding

Pharmacogenomics and Risk of Cardiovascular DiseaseU01HL069757 · NHLBI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI KRAUSS, RONALD M · 2001 to 2009
$24.7M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
Pharmacogenetics of Phase II Drug Metabolizing EnzymesU19GM061388 · NIGMS · MAYO CLINIC ROCHESTER · PI WEINSHILBOUM, RICHARD M. · 2010 to 2014
$15.8M
Pharmacogenomics and Risk of Cardiovascular DiseaseU19HL069757 · NHLBI · CHILDREN'S HOSPITAL & RES CTR AT OAKLAND · PI KRAUSS, RONALD M · 2010 to 2014
$12.8M
Clinical sequencing in cancer: Clinical ethical and technological studiesU01HG006507 · NHGRI · UNIVERSITY OF WASHINGTON · PI JARVIK, GAIL PAIRITZ · 2012 to 2016
$10.6M
Rochester Epidemiology ProjectR01AG034676 · NIA · MAYO CLINIC ROCHESTER · PI ROCCA, WALTER A, ST SAUVER, JENNIFER LYNN · 2010 to 2019
$9.5M
HLA GENE COMPLEMENTATION IN PRIMARY SJOGREN'S AND LUPUSR01AI024717 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KOTTYAN, LEAH CLAIRE, WEIRAUCH, MATTHEW TYSON · 1987 to 2025
$7.8M
INHERITED VARIATIONS IN DRUG-METABOLIZING ENZYMESR01GM028157 · NIGMS · MAYO CLINIC ROCHESTER · PI WEINSHILBOUM, RICHARD M. · 1985 to 2019
$6.9M
National Infrastructure for Standardized and Portable EHR Phenotyping AlgorithmsR01GM105688 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI LUO, YUAN, PATHAK, JYOTISHMAN · 2013 to 2020
$5.7M
eMERGE Coordinating Center - Administrative SupplementU01HG006385 · NHGRI · VANDERBILT UNIVERSITY · PI HARRIS, PAUL A. · 2011 to 2014
$5.4M
Biorepository for Genomic Medicine in diverse CommunitiesU01HG006380 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BOTTINGER, ERWIN P. · 2011 to 2015
$4.5M
NCATS NIH HHS KL2 TR000107NCI NIH HHS R01 CA138461NHGRI NIH HHS 5U01HG006507NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01HG004438NHGRI NIH HHS U01 HG005137NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01HG006375NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01HG006378NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01HG006379NHGRI NIH HHS U01 HG006380NHGRI NIH HHS U01HG006380NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01HG006382NHGRI NIH HHS U01 HG006385NHGRI NIH HHS U01HG006385NHGRI NIH HHS U01 HG006388NHGRI NIH HHS U01HG006388NHGRI NIH HHS U01 HG006389NHGRI NIH HHS U01HG006389NHGRI NIH HHS U01 HG006507NHGRI NIH HHS U01 HG006828NHGRI NIH HHS U01HG006828NHGRI NIH HHS U01 HG006830NHGRI NIH HHS U01HG006830NHLBI NIH HHS HL069757NHLBI NIH HHS U01 HL069757NHLBI NIH HHS U19 HL069757NHLBI NIH HHS U19 HL65262NIAID NIH HHS R01 AI024717NIAID NIH HHS R37 AI024717NIA NIH HHS R01 AG034676NIGMS NIH HHS K23 GM104401NIGMS NIH HHS R01 GM028157NIGMS NIH HHS R01 GM105688NIGMS NIH HHS R01 GM28157NIGMS NIH HHS U01 GM097119NIGMS NIH HHS U19 GM061388NIGMS NIH HHS U19 GM61388
6 · The paper itself

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.

Indexed as

Databases, GeneticGenetic VariationAdolescentAgedChildDrug TherapyElectronic Health RecordsFemaleGenetic Association StudiesGenotypeHumansKnowledge BasesMaleMiddle AgedPharmacogeneticsPhenotype

Identifiers

PMID24960519
PMCPMC4169732

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.