. 2019 Jun 6;104(6):1088-1096.

doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.

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

Carol R Horowitz¹, Lori A Orlando², Anne M Slavotinek³, Josh Peterson⁴, Frank Angelo⁵, Barbara Biesecker⁶, Vence L Bonham⁷, Linda D Cameron⁸, Stephanie M Fullerton⁹, Bruce D Gelb¹⁰, Katrina A B Goddard⁸, Benyam Hailu¹¹, Ragan Hart⁵, Lucia A Hindorff¹², Gail P Jarvik⁵, Dave Kaufman¹³, Eimear E Kenny¹⁴, Sara J Knight¹⁵, Barbara A Koenig¹⁶, Bruce R Korf¹⁷, Ebony Madden¹², Amy L McGuire¹⁸, Jeffrey Ou⁵, Melissa P Wasserstein¹⁹, Mimsie Robinson²⁰, Howard Leventhal²¹, Saskia C Sanderson²²

Affiliations

¹ 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.
² Duke Center for Applied Genomics and Precision Medicine, Durham, NC 27708, USA.
³ Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA 94143, USA.
⁴ Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
⁵ 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.
⁶ RTI International, Research Triangle Park, NC 27709, USA.
⁷ Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
⁸ University of California Merced, Merced, CA, USA.
⁹ 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.
¹⁰ 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.
¹¹ Division of Scientific Programs, National Institute of Minority Health and Health Disparities, NIH, Bethesda, MD 20892, USA.
¹² Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
¹³ Division of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
¹⁴ 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.
¹⁵ Division of Preventive Medicine, University of Alabama at Birmingham and Birmingham VA Medical Center, Birmingham, AL 35205, USA.
¹⁶ Program in Bioethics, University of California, San Francisco, CA 94143, USA.
¹⁷ Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35205, USA.
¹⁸ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
¹⁹ 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.
²⁰ Bethel Gospel Assembly, New York, NY 10035, USA.
²¹ Department of Psychology, Institute for Health, Rutgers University, New Brunswick, NJ 08901, USA.
²² Behavioural Science and Health Department, University College London, London, UK.

PMID: 31104772
PMCID: PMC6556906
DOI: 10.1016/j.ajhg.2019.04.006

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

Carol R Horowitz et al. Am J Hum Genet. 2019.

. 2019 Jun 6;104(6):1088-1096.

doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.

Authors

Affiliations

¹ 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.
² Duke Center for Applied Genomics and Precision Medicine, Durham, NC 27708, USA.
³ Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA 94143, USA.
⁴ Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
⁵ 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.
⁶ RTI International, Research Triangle Park, NC 27709, USA.
⁷ Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
⁸ University of California Merced, Merced, CA, USA.
⁹ 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.
¹⁰ 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.
¹¹ Division of Scientific Programs, National Institute of Minority Health and Health Disparities, NIH, Bethesda, MD 20892, USA.
¹² Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
¹³ Division of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
¹⁴ 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.
¹⁵ Division of Preventive Medicine, University of Alabama at Birmingham and Birmingham VA Medical Center, Birmingham, AL 35205, USA.
¹⁶ Program in Bioethics, University of California, San Francisco, CA 94143, USA.
¹⁷ Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35205, USA.
¹⁸ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
¹⁹ 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.
²⁰ Bethel Gospel Assembly, New York, NY 10035, USA.
²¹ Department of Psychology, Institute for Health, Rutgers University, New Brunswick, NJ 08901, USA.
²² Behavioural Science and Health Department, University College London, London, UK.

PMID: 31104772
PMCID: PMC6556906
DOI: 10.1016/j.ajhg.2019.04.006

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.

Keywords: conceptual; diversity; framework; genomics; implementation; model; translational research.

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Figures

**Figure 1**
The Genomic Medicine Integrative Research (GMIR) Framework

**Figure 2**
GMIR Framework Adapted for Chronic Disease Risk Genetic Testing

**Figure 3**
GMIR Framework Adapted for Pharmacogenomic Testing

**Figure 4**
GMIR Framework Adapted for WGS in Children with Rare Diseases

See this image and copyright information in PMC

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

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

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