Evidence map›Paper›PMID 31104772›Full record

ArticleAmerican journal of human genetics2019

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

Carol R Horowitz, Lori A Orlando, Anne M Slavotinek, Josh Peterson, Frank Angelo, Barbara Biesecker, Vence L Bonham, Linda D Cameron, Stephanie M Fullerton, Bruce D Gelb and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 2 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  12. Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
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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

27 authors.

Carol R HorowitzCenter for Health Equity and Community Engaged Research, Icahn School of Medicine, New York, NY 10029, USA; Department of Population Health Science and Policy, Icahn School of Medicine, New York, NY 10029, USA. Electronic address: carol.horowitz@mssm.edu.
Lori A OrlandoDuke Center for Applied Genomics and Precision Medicine, Durham, NC 27708, USA.
Anne M SlavotinekDepartment of Pediatrics, Division of Genetics, University of California, San Francisco, CA 94143, USA.
Josh PetersonDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Frank AngeloClinical Sequencing Evidence-Generating Research Coordinating Center, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Barbara BieseckerRTI International, Research Triangle Park, NC 27709, USA.
Vence L BonhamSocial and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Linda D CameronUniversity of California Merced, Merced, CA, USA.
Stephanie M FullertonClinical Sequencing Evidence-Generating Research Coordinating Center, University of Washington, Seattle, WA 98195, USA; Department of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.
Bruce D GelbDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Katrina A B GoddardUniversity of California Merced, Merced, CA, USA.
Benyam HailuDivision of Scientific Programs, National Institute of Minority Health and Health Disparities, NIH, Bethesda, MD 20892, USA.
Ragan HartClinical Sequencing Evidence-Generating Research Coordinating Center, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Lucia A HindorffDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Gail P JarvikClinical Sequencing Evidence-Generating Research Coordinating Center, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Dave KaufmanDivision of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Eimear E KennyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Center for Population Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Sara J KnightDivision of Preventive Medicine, University of Alabama at Birmingham and Birmingham VA Medical Center, Birmingham, AL 35205, USA.
Barbara A KoenigProgram in Bioethics, University of California, San Francisco, CA 94143, USA.
Bruce R KorfDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35205, USA.
Ebony MaddenDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
Jeffrey OuClinical Sequencing Evidence-Generating Research Coordinating Center, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.
Melissa P WassersteinDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Mimsie RobinsonBethel Gospel Assembly, New York, NY 10035, USA.
Howard LeventhalDepartment of Psychology, Institute for Health, Rutgers University, New Brunswick, NJ 08901, USA.
Saskia C SandersonBehavioural Science and Health Department, University College London, London, UK.

Funding

MSHS Translational Science HubUL1TR001433 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI WRIGHT, ROSALIND J · 2015 to 2019
$26.6M
North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7M
Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and ValidationU01HG006485 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI MCGUIRE, AMY L, PARSONS, DONALD W. · 2012 to 2021
$22.1M
Incorporating genomics into the clinical care of diverse NYC childrenU01HG009610 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D, HOROWITZ, CAROL R · 2017 to 2021
$17.0M
Sharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3M
Exome sequencing in Diverse Populations in Colorado & OregonU01HG007292 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI LEO, MICHAEL C, WILFOND, BENJAMIN SIMON · 2017 to 2021
$15.7M
Genomic Ascertainment - Clinical and Behavioral AspectsZIAHG200387 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$15.5M
South-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9M
Clinical Implementation of Carrier Testing using NGSUM1HG007292 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI GODDARD, KATRINA A., WILFOND, BENJAMIN SIMON · 2013 to 2016
$8.2M
New York Regional Center for Diabetes Translation Research - Translational Intervention Methodology CoreP30DK111022 · NIDDK · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI JEFFREY GONZALEZ · 2016 to 2026
$7.8M
Implementation, Adoption, and Utility of Family History in Diverse Care SettingsU01HG007282 · NHGRI · DUKE UNIVERSITY · PI GINSBURG, GEOFFREY S, ORLANDO, LORI ANN · 2013 to 2018
$7.0M
Evolving Our Partnership: The CSER2 Centralized Support Coordinating CenterU24HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI FULLERTON, STEPHANIE MALIA, JARVIK, GAIL PAIRITZ · 2017 to 2021
$5.8M
Intramural NIH HHS ZIA HG200387NCATS NIH HHS UL1 TR001433NHGRI NIH HHS U01 HG006485NHGRI NIH HHS U01 HG006487NHGRI NIH HHS U01 HG007278NHGRI NIH HHS U01 HG007282NHGRI NIH HHS U01 HG007292NHGRI NIH HHS U01 HG007301NHGRI NIH HHS U01 HG009599NHGRI NIH HHS U01 HG009610NHGRI NIH HHS U24 HG007307NHGRI NIH HHS UM1 HG007292NIDDK NIH HHS P30 DK111022NIH HHS S10 OD018522
6 · The paper itself

Abstract

Conceptual frameworks are useful in research because they can highlight priority research domains, inform decisions about interventions, identify outcomes and factors to measure, and display how factors might relate to each other to generate and test hypotheses. Discovery, translational, and implementation research are all critical to the overall mission of genomic medicine and prevention, but they have yet to be organized into a unified conceptual framework. To fill this gap, our diverse team collaborated to develop the Genomic Medicine Integrative Research (GMIR) Framework, a simple but comprehensive tool to aid the genomics community in developing research questions, strategies, and measures and in integrating genomic medicine and prevention into clinical practice. Here we present the GMIR Framework and its development, along with examples of its use for research development, demonstrating how we applied it to select and harmonize measures for use across diverse genomic medicine implementation projects. Researchers can utilize the GMIR Framework for their own research, collaborative investigations, and clinical implementation efforts; clinicians can use it to establish and evaluate programs; and all stakeholders can use it to help allocate resources and make sure that the full complexity of etiology is included in research and program design, development, and evaluation.

Indexed as

Biomedical ResearchDelivery of Health Care, IntegratedGenetics, MedicalResearch DesignGenomicsHumansModels, TheoreticalPrecision MedicineRare Diseasesconceptualdiversityframeworkgenomicsimplementationmodeltranslational research

Identifiers

PMID31104772
PMCPMC6556906

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.