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

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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.

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Author and article information

Contributors

Carol R. Horowitz

Journal

Journal ID (nlm-ta): Am J Hum Genet

Journal ID (iso-abbrev): Am. J. Hum. Genet

Title: American Journal of Human Genetics

Publisher: Elsevier

ISSN (Print): 0002-9297

ISSN (Electronic): 1537-6605

Publication date (Print): 06 June 2019

Publication date (Electronic): 16 May 2019

Volume: 104

Issue: 6

Pages: 1088-1096

Affiliations

[1 ]Center for Health Equity and Community Engaged Research, Icahn School of Medicine, New York, NY 10029, USA

[2 ]Department of Population Health Science and Policy, Icahn School of Medicine, New York, NY 10029, USA

[3 ]Duke Center for Applied Genomics and Precision Medicine, Durham, NC 27708, USA

[4 ]Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA 94143, USA

[5 ]Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA

[6 ]Clinical Sequencing Evidence-Generating Research Coordinating Center, University of Washington, Seattle, WA 98195, USA

[7 ]Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA

[8 ]RTI International, Research Triangle Park, NC 27709, USA

[9 ]Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA

[10 ]University of California Merced, Merced, CA, USA

[11 ]Department of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA

[12 ]Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA

[13 ]Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA

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

[15 ]Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA

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

[17 ]The Center for Population Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA

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

[19 ]Program in Bioethics, University of California, San Francisco, CA 94143, USA

[20 ]Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35205, USA

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

[22 ]Children’s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10461, USA

[23 ]Bethel Gospel Assembly, New York, NY 10035, USA

[24 ]Department of Psychology, Institute for Health, Rutgers University, New Brunswick, NJ 08901, USA

[25 ]Behavioural Science and Health Department, University College London, London, UK

Author notes

[∗ ]Corresponding author carol.horowitz@ 123456mssm.edu

[26]

All editorial responsibility for this paper was handled by an associate editor of The Journal

Article

Accession ID: PMC6556906 Pmcid ID: PMC6556906 Pmc-uid ID: 6556906 Publisher ID: S0002-9297(19)30152-1

DOI: 10.1016/j.ajhg.2019.04.006

PMC ID: 6556906

PubMed ID: 31104772

SO-VID: cbb6b427-2f8a-410e-8049-053c09745f12

History

Date received : 27 November 2018

Date accepted : 10 April 2019

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

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