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

Publication ,  Journal Article
Horowitz, CR; Orlando, LA; Slavotinek, AM; Peterson, J; Angelo, F; Biesecker, B; Bonham, VL; Cameron, LD; Fullerton, SM; Gelb, BD; Goddard, KAB ...
Published in: Am J Hum Genet
June 6, 2019

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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Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

June 6, 2019

Volume

104

Issue

6

Start / End Page

1088 / 1096

Location

United States

Related Subject Headings

  • Research Design
  • Rare Diseases
  • Precision Medicine
  • Models, Theoretical
  • Humans
  • Genomics
  • Genetics, Medical
  • Genetics & Heredity
  • Delivery of Health Care, Integrated
  • Biomedical Research
 

Citation

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Chicago
ICMJE
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Horowitz, C. R., Orlando, L. A., Slavotinek, A. M., Peterson, J., Angelo, F., Biesecker, B., … Sanderson, S. C. (2019). The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. Am J Hum Genet, 104(6), 1088–1096. https://doi.org/10.1016/j.ajhg.2019.04.006
Horowitz, Carol R., Lori A. Orlando, Anne M. Slavotinek, Josh Peterson, Frank Angelo, Barbara Biesecker, Vence L. Bonham, et al. “The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.Am J Hum Genet 104, no. 6 (June 6, 2019): 1088–96. https://doi.org/10.1016/j.ajhg.2019.04.006.
Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, et al. The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. Am J Hum Genet. 2019 Jun 6;104(6):1088–96.
Horowitz, Carol R., et al. “The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.Am J Hum Genet, vol. 104, no. 6, June 2019, pp. 1088–96. Pubmed, doi:10.1016/j.ajhg.2019.04.006.
Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC. The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. Am J Hum Genet. 2019 Jun 6;104(6):1088–1096.
Journal cover image

Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

June 6, 2019

Volume

104

Issue

6

Start / End Page

1088 / 1096

Location

United States

Related Subject Headings

  • Research Design
  • Rare Diseases
  • Precision Medicine
  • Models, Theoretical
  • Humans
  • Genomics
  • Genetics, Medical
  • Genetics & Heredity
  • Delivery of Health Care, Integrated
  • Biomedical Research