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: 6.44). 11/2007; 9(10):665-74. DOI: 10.1097/GIM.0b013e31815699d0
Source: PubMed

ABSTRACT 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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    • "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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    • "The clinical or public health applications of such variants are unclear, including whether knowledge of such genetic variants related to disease risk will lead to meaningful improvements in public health. The commercialization of genomic tests involving low-penetrance variants has outpaced our understanding of the communication, behavioral and social aspects of testing (Khoury et al., 2007; McBride et al., 2008). "
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    ABSTRACT: This study examines communication about limitations of genomic results interpretation for colon cancer risk during education and counseling of minority participants. As part of a larger study conducted from 2010 to 2012, participants recruited from a large primary care clinic were offered testing for a research panel of 3 genomic markers (single nucleotide polymorphisms or SNPs) for colorectal cancer risk. Genetic counselors conducted pre- and post-test sessions which included discussion of limitations of result interpretation due to the lack of racial/ethnic diversity in research populations from which risk data are derived. Sessions were audio-recorded, transcribed and thematically analyzed. Many participants did not respond directly to this limitation. Among the participants that responded directly to this race-related limitation, many responses were negative. However, a few participants connected the limited minority information about SNPs with the importance of their current research participation. Genetic counselor discussions of this limitation were bio-medically focused with limited explanations for the lacking data. The communication process themes identified included: low immediacy (infrequent use of language directly involving a participant), verbal dominance (greater speaking ratio of the counselor to the patient) and wide variation in the degree of interactivity (or the amount of turn-taking during the discussion). Placed within the larger literature on patient-provider communication, these present results provide insight into the dynamics surrounding race-related educational content for genomic testing and other emerging technologies. Clinicians may be better able to engage patients in the use of new genomic technology by increasing their awareness of specific communication processes and patterns during education or counseling sessions.
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    • "Furthermore, our translational model is in-part a response to the more recent focus in health policy that have pushed for more efficacious forms of 'knowledge translation' through which knowledge is linked and exchanged between users and producers to expedite advances in medicine (Landry et al. 2006; WHO 2006). Entire sub-fields have arisen focusing on 'translation in medicine' (T), which has been characterized as a multiphase—and somewhat linear—process that includes the movement of biomedical research into diagnosis or treatment (T1), subsequent development into evidence-based protocols (T2) (Kerner 2006, 73), deployment into clinical practice (T3) (Westfall, Mold and Fagnan 2007), and verification and evaluation for 'real world' impacts on health (T4) (Khoury et al. 2007). However, rather than seeing translation as a homogenous process that refers to everything at once yet nothing at all, our research on an international scientific network—reported in detail elsewhere (Atkinson-Grosjean and Douglas 2010)— has identified that multiple heterogeneous translational pathways can co-exist within the same research network. "
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