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, Katrina A.B. Goddard, Benyam Hailu, Ragan Hart, Lucia A. Hindorff, Gail P. Jarvik, Dave Kaufman, Eimear E. Kenny, Sara J. Knight, Barbara A. Koenig, Bruce R. KorfEbony Madden, Amy L. McGuire, Jeffrey Ou, Melissa P. Wasserstein, Mimsie Robinson, Howard Leventhal, Saskia C. Sanderson

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1088-1096
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number6
StatePublished - Jun 6 2019


  • conceptual
  • diversity
  • framework
  • genomics
  • implementation
  • model
  • translational research

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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