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Review
. 2011 Oct;20(10):2105-14.
doi: 10.1158/1055-9965.EPI-11-0481. Epub 2011 Jul 27.

Population sciences, translational research, and the opportunities and challenges for genomics to reduce the burden of cancer in the 21st century

Muin J Khoury  1 , Steven B Clauser, Andrew N Freedman, Elizabeth M Gillanders, Russ E Glasgow, William M P Klein, Sheri D Schully
Affiliations
Review

Population sciences, translational research, and the opportunities and challenges for genomics to reduce the burden of cancer in the 21st century

Muin J Khoury et al. Cancer Epidemiol Biomarkers Prev. 2011 Oct.

Abstract

Advances in genomics and related fields are promising tools for risk assessment, early detection, and targeted therapies across the entire cancer care continuum. In this commentary, we submit that this promise cannot be fulfilled without an enhanced translational genomics research agenda firmly rooted in the population sciences. Population sciences include multiple disciplines that are needed throughout the translational research continuum. For example, epidemiologic studies are needed not only to accelerate genomic discoveries and new biological insights into cancer etiology and pathogenesis, but to characterize and critically evaluate these discoveries in well-defined populations for their potential for cancer prediction, prevention and response to treatment. Behavioral, social, and communication sciences are needed to explore genomic-modulated responses to old and new behavioral interventions, adherence to therapies, decision making across the continuum, and effective use in health care. Implementation science, health services, outcomes research, comparative effectiveness research, and regulatory science are needed for moving validated genomic applications into practice and for measuring their effectiveness, cost-effectiveness, and unintended consequences. Knowledge synthesis, evidence reviews, and economic modeling of the effects of promising genomic applications will facilitate policy decisions and evidence-based recommendations. Several independent and multidisciplinary panels have recently made specific recommendations for enhanced research and policy infrastructure to inform clinical and population research for moving genomic innovations into the cancer care continuum. An enhanced translational genomics and population sciences agenda is urgently needed to fulfill the promise of genomics in reducing the burden of cancer.

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Figures

Figure 1
Figure 1. Phases of Translational Research in Cancer Genomics: Beyond Bench to Bedside (adapted from reference 15)
Figure 2
Figure 2. Numbers and Types of NCI Extramural Funded Cancer Genomics Research in FY2007, By Phase of Translation (from reference 16)
See this image and copyright information in PMC

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