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

Biomedical Research Delivery of Health Care, Integrated Genetics, Medical Genomics / methods Humans Models, Theoretical Precision Medicine / methods Rare Diseases / genetics Research Design
conceptual diversity framework genomics implementation model translational research

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
06 06 2019
Historique:
received: 27 11 2018
accepted: 10 04 2019
pubmed: 21 5 2019
medline: 12 3 2020
entrez: 21 5 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.ajhg.2019.04.006 PMID: 31104772 PMC: PMC6556906
pubmed: 31104772
pii: S0002-9297(19)30152-1
doi: 10.1016/j.ajhg.2019.04.006
pmc: PMC6556906
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1088-1096

Subventions

Organisme : NHGRI NIH HHS
ID : U01 HG007292
Pays : United States
Organisme : NIH HHS
ID : S10 OD018522
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK111022
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG007292
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007301
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG009610
Pays : United States

Informations de copyright

Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Auteurs

Carol R Horowitz (CR)

Center 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 Orlando (LA)

Duke Center for Applied Genomics and Precision Medicine, Durham, NC 27708, USA.

Anne M Slavotinek (AM)

Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA 94143, USA.

Josh Peterson (J)

Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

Frank Angelo (F)

Clinical 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 Biesecker (B)

RTI International, Research Triangle Park, NC 27709, USA.

Vence L Bonham (VL)

Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Linda D Cameron (LD)

University of California Merced, Merced, CA, USA.

Stephanie M Fullerton (SM)

Clinical 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 Gelb (BD)

Department 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 Goddard (KAB)

University of California Merced, Merced, CA, USA.

Benyam Hailu (B)

Division of Scientific Programs, National Institute of Minority Health and Health Disparities, NIH, Bethesda, MD 20892, USA.

Ragan Hart (R)

Clinical 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 Hindorff (LA)

Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Gail P Jarvik (GP)

Clinical 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 Kaufman (D)

Division of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Eimear E Kenny (EE)

Department 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 Knight (SJ)

Division of Preventive Medicine, University of Alabama at Birmingham and Birmingham VA Medical Center, Birmingham, AL 35205, USA.

Barbara A Koenig (BA)

Program in Bioethics, University of California, San Francisco, CA 94143, USA.

Bruce R Korf (BR)

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35205, USA.

Ebony Madden (E)

Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Amy L McGuire (AL)

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.

Jeffrey Ou (J)

Clinical 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 Wasserstein (MP)

Department 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 Robinson (M)

Bethel Gospel Assembly, New York, NY 10035, USA.

Howard Leventhal (H)

Department of Psychology, Institute for Health, Rutgers University, New Brunswick, NJ 08901, USA.

Saskia C Sanderson (SC)

Behavioural Science and Health Department, University College London, London, UK.

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Classifications MeSH

questionsmedicales.fr › Disciplines des sciences naturelles › Science › Recherche › Recherche biomédicale › The Genomic Medicine Integrative Research...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Prestations des soins de santé › Prestation intégrée de soins de santé › The Genomic Medicine Integrative Research...
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questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The Genomic Medicine Integrative Research...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › The Genomic Medicine Integrative Research...
questionsmedicales.fr › Professions de santé › Médecine › Médecine clinique › Médecine de précision › The Genomic Medicine Integrative Research...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › The Genomic Medicine Integrative Research...
questionsmedicales.fr › Disciplines des sciences naturelles › Science › Recherche › Plan de recherche › The Genomic Medicine Integrative Research...