Realizing the potential of genomics: Translation is not translational research

Abstract

We were delighted to read the recent review by Khoury et al. 1 describing the Genomic Applications in Practice and Prevention Network. Translation of genomic medicine is an essential goal for the medical and public health communities, and we welcome GAPPNet as a laudable initiative to accelerate the effective transfer of emerging genomic knowledge and applications into improved clinical care. We agree with the authors' assertion that a coordinated system for translation can have a substantial impact on current barriers to progress in the translational process. However, we suggest that their model, although an excellent one, does not adequately address two key elements additionally required for optimal translation: recognition of the limitations of translational research and the need for explicit processes of policy and service development.Recent years have heralded a growing commitment to translational research on both sides of the Atlantic, 2 typically separated into two distinct categories: the translation of scientific understanding into a product or intervention and the translation of these new products into practice for patient benefit. 3 It was perceived that greater attention to these two activities, referred to respectively as "from bench to bedside" and "research into practice," or as "T1" and "T2" research, could overcome delays in the translational process. 4 This became the focus of a new "roadmap" by the National Institutes of Health. 5,6 The Cooksey Report, 7 a strategy for the funding of UK health research, similarly identified first and second gaps in translation, proposing that translational research would serve to plug them. More recently, Khoury further dissected the translational process, suggesting that T2 research could be subdivided into three phases of translation in addition to T1 research: T2, the evaluation and development of evidence-based guidelines; T3, research to move evidence-based guidelines into health practice; and T4, research to evaluate the health outcomes of a genomic application in practice. 8 In practice, interest, activity, and funding are not evenly distributed along the translational pathway; US authors have shown how T1 research typically overshadows T2. 3 Similarly, UK figures also show that the bulk of research funding goes on basic research and Type 1 translation. 7 However, the paucity of funding for translational work is not the only obstacle to progress. Policy makers, academics, and research funders equate this need too tightly with the research paradigm and conflate translation with translational research. For example, the influential UK Genomic Medicine report is explicitly focused solely on the first of the two "gaps in translation" as discussed by Cooksey; it calls for the Office for the Strategic Co-ordination of Health Research to be charged with developing a strategic vision for translation, and the National Institute for Health Research with monitoring developments in genomic medicine and their implications for health services. 8 GAPPNet builds...

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