Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.
Cancer Epidemiol Biomarkers Prev. 2011 Oct;20(10):2105-14. doi: 10.1158/1055-9965.EPI-11-0481. Epub 2011 Jul 27.
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.
基因组学及相关领域的进展为癌症诊疗全程中的风险评估、早期发现和靶向治疗提供了有前景的工具。在这篇评论中，我们认为，如果没有一个以人群科学为基础的、强化的转化基因组学研究议程，这一承诺将无法实现。人群科学包括贯穿转化研究全过程所需的多个学科。例如，不仅需要开展流行病学研究来加速基因组发现和对癌症病因和发病机制的新生物学认识，还需要在明确界定的人群中对这些发现进行特征描述和严格评估，以评估其在癌症预测、预防和治疗反应方面的潜力。行为科学、社会科学和传播科学需要探索基因组调控对新旧行为干预措施、治疗依从性、贯穿整个连续体的决策以及在医疗保健中的有效应用的反应。实施科学、卫生服务、结局研究、比较效果研究和监管科学需要将经过验证的基因组应用转化为实践，并衡量其有效性、成本效益和意外后果。有前途的基因组应用效果的知识综合、证据审查和经济建模将有助于决策和循证建议。最近，几个独立的多学科小组提出了具体建议，以加强研究和政策基础设施，为将基因组创新纳入癌症诊疗全程中的临床和人群研究提供信息。为了实现基因组学在降低癌症负担方面的承诺，迫切需要一个强化的转化基因组学和人群科学议程。
