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

被引:37
|
作者
Horowitz, Carol R. [1 ,2 ]
Orlando, Lori A. [3 ]
Slavotinek, Anne M. [4 ]
Peterson, Josh [5 ]
Angelo, Frank [6 ,7 ]
Biesecker, Barbara [8 ]
Bonham, Vence L. [9 ]
Cameron, Linda D. [10 ]
Fullerton, Stephanie M. [6 ,11 ]
Gelb, Bruce D. [12 ,13 ]
Goddard, Katrina A. B. [10 ]
Hailu, Benyam [14 ]
Hart, Ragan [6 ,7 ]
Hindorff, Lucia A. [15 ]
Jarvik, Gail P. [6 ,7 ]
Kaufman, Dave [16 ]
Kenny, Eimear E. [13 ,17 ]
Knight, Sara J. [18 ,19 ]
Koenig, Barbara A. [20 ]
Korf, Bruce R. [21 ]
Madden, Ebony [15 ]
McGuire, Amy L. [22 ]
Ou, Jeffrey [6 ,7 ]
Wasserstein, Melissa P. [13 ,23 ]
Robinson, Mimsie [24 ]
Leventhal, Howard [25 ]
Sanderson, Saskia C. [26 ]
机构
[1] Icahn Sch Med, Ctr Hlth Equity & Community Engaged Res, New York, NY 10029 USA
[2] Icahn Sch Med, Dept Populat Hlth Sci & Policy, New York, NY 10029 USA
[3] Duke Ctr Appl Genom & Precis Med, Durham, NC 27708 USA
[4] Univ Calif San Francisco, Div Genet, Dept Pediat, San Francisco, CA 94143 USA
[5] Vanderbilt Univ, Med Ctr, Dept Biomed Informat, Nashville, TN 37232 USA
[6] Univ Washington, Clin Sequencing Evidence Generating Res Coordinat, Seattle, WA 98195 USA
[7] Univ Washington, Div Med Genet, Dept Med, Seattle, WA 98195 USA
[8] RTI Int, Res Triangle Pk, NC 27709 USA
[9] NHGRI, Social & Behav Res Branch, NIH, Bethesda, MD 20892 USA
[10] Univ Calif Merced, Merced, CA USA
[11] Univ Washington, Dept Bioeth & Humanities, Seattle, WA 98195 USA
[12] Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA
[13] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
[14] Natl Inst Minor Hlth & Hlth Dispar, Div Sci Programs, NIH, Bethesda, MD 20892 USA
[15] NHGRI, Div Genom Med, NIH, Bethesda, MD 20892 USA
[16] NHGRI, Div Genom & Soc, NIH, Bethesda, MD 20892 USA
[17] Icahn Sch Med Mt Sinai, Ctr Populat Genom Hlth, New York, NY 10029 USA
[18] Univ Alabama Birmingham, Div Prevent Med, Birmingham, AL 35205 USA
[19] Birmingham VA Med Ctr, Birmingham, AL 35205 USA
[20] Univ Calif San Francisco, Program Bioeth, San Francisco, CA 94143 USA
[21] Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35205 USA
[22] Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA
[23] Albert Einstein Coll Med, Childrens Hosp Montefiore, Bronx, NY 10461 USA
[24] Bethel Gospel Assembly, New York, NY 10035 USA
[25] Rutgers State Univ, Inst Hlth, Dept Psychol, New Brunswick, NJ 08901 USA
[26] UCL, Behav Sci & Hlth Dept, London, England
关键词
IMPLEMENTATION; PHARMACOGENOMICS; DESIGN; CARE; ATTITUDES; NETWORK; CANCER; EXOME; RACE;
D O I
10.1016/j.ajhg.2019.04.006
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:1088 / 1096
页数:9
相关论文
共 50 条
  • [21] Recent developments in genetic/genomic medicine
    Horton, Rachel H.
    Lucassen, Anneke M.
    CLINICAL SCIENCE, 2019, 133 (05) : 697 - 708
  • [22] Knowledge integration at the center of genomic medicine
    Khoury, Muin J.
    Gwinn, Marta
    Dotson, W. David
    Schully, Sheri D.
    GENETICS IN MEDICINE, 2012, 14 (07) : 643 - 647
  • [23] Precision Medicine in Nephrology: An Integrative Framework of Multidimensional Data in the Kidney Precision Medicine Project
    El-Achkar, Tarek M.
    Eadon, Michael T.
    Kretzler, Matthias
    Himmelfarb, Jonathan
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2024, 83 (03) : 402 - 410
  • [24] The Role of Electronic Health Records in Advancing Genomic Medicine
    Linder, Jodell E.
    Bastarache, Lisa
    Hughey, Jacob J.
    Peterson, Josh F.
    ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 22, 2021, 2021, 22 : 219 - 238
  • [25] Case Study Observational Research: A Framework for Conducting Case Study Research Where Observation Data Are the Focus
    Morgan, Sonya J.
    Pullon, Susan R. H.
    Macdonald, Lindsay M.
    McKinlay, Eileen M.
    Gray, Ben V.
    QUALITATIVE HEALTH RESEARCH, 2017, 27 (07) : 1060 - 1068
  • [26] Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine
    de Oliveira, Thais C.
    Lopes-Cendes, Iscia
    JOURNAL OF COMMUNITY GENETICS, 2024,
  • [27] Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium
    Wolf, Susan M.
    Amendola, Laura M.
    Berg, Jonathan S.
    Chung, Wendy K.
    Clayton, Ellen Wright
    Green, Robert C.
    Harris-Wai, Julie
    Henderson, Gail E.
    Jarvik, Gail P.
    Koenig, Barbara A.
    Lehmann, Lisa Soleymani
    McGuire, Amy L.
    O'Rourke, Pearl
    Somkin, Carol
    Wilfond, Benjamin S.
    Burke, Wylie
    GENETICS IN MEDICINE, 2018, 20 (05) : 545 - 553
  • [28] Research-Practice: A Practical Conceptual Framework
    Desimone, Laura M.
    Wolford, Tonya
    Hill, Kirsten Lee
    AERA OPEN, 2016, 2 (04)
  • [29] Prioritising the application of genomic medicine
    Doble, Brett
    Schofield, Deborah J.
    Roscioli, Tony
    Mattick, John S.
    NPJ GENOMIC MEDICINE, 2017, 2
  • [30] Implementing Genomic Medicine in Pathology
    Williams, Eli S.
    Hegde, Madhuri
    ADVANCES IN ANATOMIC PATHOLOGY, 2013, 20 (04) : 238 - 244