Khoury MJ, Gwinn M, Yoon PW, et al.. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention

National Office of Public Health Genomics Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 11/2007; 9(10):665-74. DOI: 10.1097/GIM.0b013e31815699d0
Source: PubMed


Advances in genomics have led to mounting expectations in regard to their impact on health care and disease prevention. In light of this fact, a comprehensive research agenda is needed to move human genome discoveries into health practice in a way that maximizes health benefits and minimizes harm to individuals and populations. We present a framework for the continuum of multidisciplinary translation research that builds on previous characterization efforts in genomics and other areas in health care and prevention. The continuum includes four phases of translation research that revolve around the development of evidence-based guidelines. Phase 1 translation (T1) research seeks to move a basic genome-based discovery into a candidate health application (e.g., genetic test/intervention). Phase 2 translation (T2) research assesses the value of a genomic application for health practice leading to the development of evidence-based guidelines. Phase 3 translation (T3) research attempts to move evidence-based guidelines into health practice, through delivery, dissemination, and diffusion research. Phase 4 translation (T4) research seeks to evaluate the "real world" health outcomes of a genomic application in practice. Because the development of evidence-based guidelines is a moving target, the types of translation research can overlap and provide feedback loops to allow integration of new knowledge. Although it is difficult to quantify how much of genomics research is T1, we estimate that no more than 3% of published research focuses on T2 and beyond. Indeed, evidence-based guidelines and T3 and T4 research currently are rare. With continued advances in genomic applications, however, the full continuum of translation research needs adequate support to realize the promise of genomics for human health.

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Available from: Muin J Khoury, Aug 29, 2014
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    • "The current state of genomic knowledge focuses on gene discovery and the validity of emerging tests; few studies evaluate the value and health outcomes of genomic applications in practice (Khoury et al. 2007). With the increasing clinical diffusion of WG/ES, there is an urgent need to develop high quality evidence on their benefits and harms as well as their impact on health outcomes and health service use in the Canadian context. "

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    • "It then continues with prioritizing, executing, and evaluating conservation actions, before the cycle is repeated and refined until goals are reached. Addressing the major steps in this cycle has also been recognized as key in other areas of applied genetics (Khoury et al. 2007). The 15 articles offered in this special issue cover not only a wide range of countries and species (from Cuba to "

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    • "For well over a decade, translation—which in the simplest terms can be described as systematic and deliberate processes using research findings to inform changes in policy and practice to improve population health—has become increasingly central to the missions of health sciences and of major government and foundation funders of health research (Alfano et al., 2014;Lomas, 2000;McGinnis, Williams-Russo, & Knickman, 2002;Rubio et al., 2010;Sung et al., 2003;Zerhouni, 2005). Subsequent to the U.S. Institute of Medicine (IOM) Clinical Research Roundtable's 2003 publication on translational research, which described translational research in two phases (T1 and T2) (Sung et al., 2003), scholars have expanded on the phases to include T3 and T4 to delineate types of translation occurring in the public health and policy sectors with the potential to improve population health on a large scale (Alfano et al., 2014;Khoury et al., 2007). In addition, the IOM further extolled the importance of policy translation, urging scientists in its 2011 report For the Public's Health: Revitalizing Law and Policy to Meet New Challenges to engage in active policy research to identify promising innovations for high impact (Institute of Medicine Committee on Public Health Strategies toImprove Health, 2011). "
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