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The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
Horowitz, Carol R; Orlando, Lori A; Slavotinek, Anne M; Peterson, Josh; Angelo, Frank; Biesecker, Barbara; Bonham, Vence L; Cameron, Linda D; Fullerton, Stephanie M; Gelb, Bruce D; Goddard, Katrina A B; Hailu, Benyam; Hart, Ragan; Hindorff, Lucia A; Jarvik, Gail P; Kaufman, Dave; Kenny, Eimear E; Knight, Sara J; Koenig, Barbara A; Korf, Bruce R; Madden, Ebony; McGuire, Amy L; Ou, Jeffrey; Wasserstein, Melissa P; Robinson, Mimsie; Leventhal, Howard; Sanderson, Saskia C.
Afiliação
  • 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.
  • Orlando LA; Duke Center for Applied Genomics and Precision Medicine, Durham, NC 27708, USA.
  • Slavotinek AM; Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA 94143, USA.
  • Peterson J; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • 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.
  • Biesecker B; RTI International, Research Triangle Park, NC 27709, USA.
  • Bonham VL; Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Cameron LD; University of California Merced, Merced, CA, USA.
  • 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.
  • 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.
  • Goddard KAB; University of California Merced, Merced, CA, USA.
  • Hailu B; Division of Scientific Programs, National Institute of Minority Health and Health Disparities, NIH, Bethesda, MD 20892, USA.
  • 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.
  • Hindorff LA; Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • 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.
  • Kaufman D; Division of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • 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.
  • Knight SJ; Division of Preventive Medicine, University of Alabama at Birmingham and Birmingham VA Medical Center, Birmingham, AL 35205, USA.
  • Koenig BA; Program in Bioethics, University of California, San Francisco, CA 94143, USA.
  • Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35205, USA.
  • Madden E; Division of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
  • 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.
  • 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.
  • Robinson M; Bethel Gospel Assembly, New York, NY 10035, USA.
  • Leventhal H; Department of Psychology, Institute for Health, Rutgers University, New Brunswick, NJ 08901, USA.
  • Sanderson SC; Behavioural Science and Health Department, University College London, London, UK.
Am J Hum Genet ; 104(6): 1088-1096, 2019 06 06.
Article em En | MEDLINE | ID: mdl-31104772
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Projetos de Pesquisa / Prestação Integrada de Cuidados de Saúde / Genômica / Doenças Raras / Pesquisa Biomédica / Medicina de Precisão / Genética Médica Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Projetos de Pesquisa / Prestação Integrada de Cuidados de Saúde / Genômica / Doenças Raras / Pesquisa Biomédica / Medicina de Precisão / Genética Médica Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article