Ozdemir Vural, Williams-Jones Bryn, Cooper Dan M, Someya Toshiyuki, Godard Béatrice
General Clinical Research Center, School of Medicine, University of California, Irvine, CA, USA.
Pharmacogenomics. 2007 Feb;8(2):177-85. doi: 10.2217/14622416.8.2.177.
Translational research is frequently used in the bioscience literature to refer to the translation of basic science into practical applications at the point of patient care. With the introduction of theragnostics, a new medical subspecialty that fuses therapeutics and diagnostic medicine with the goal of providing individualized pharmacotherapy, we suggest that the focus of translational research is shifting. We identify two bottlenecks or gaps in translational research for theragnostics: GAP1 translation from basic science to first-in-human proof-of-concept; and GAP2 translation from clinical proof-of-concept to development of evidence-based personalized treatment guidelines. GAP1 translational research in theragnostics is usually performed in traditional craft-based studies with small sample sizes and led by independent academic or industry researchers. In contrast, GAP2 translational investigations typically rely on large research consortiums and population-based biobanks that couple biomarker information with longitudinal 'real-life' observational data on a broad range of pharmacological phenotypes. Despite an abundance of research on the use of biobanks in disease gene discovery, there has been little conceptual work on whether and to what extent population biobanks can be utilized for translating genomics discoveries to practical treatment guidelines for theragnostic tests.
转化研究在生物科学文献中经常被用来指代将基础科学转化为患者护理层面的实际应用。随着治疗诊断学这一新型医学亚专业的引入，其旨在融合治疗学与诊断医学以提供个体化药物治疗，我们认为转化研究的重点正在发生转变。我们确定了治疗诊断学转化研究中的两个瓶颈或差距：差距1，从基础科学到首次人体概念验证的转化；以及差距2，从临床概念验证到基于证据的个性化治疗指南的制定。治疗诊断学中的差距1转化研究通常在样本量较小的传统手工研究中进行，由独立的学术或行业研究人员主导。相比之下，差距2转化研究通常依赖大型研究联盟和基于人群的生物样本库，这些生物样本库将生物标志物信息与关于广泛药理表型的纵向“真实生活”观察数据相结合。尽管在利用生物样本库进行疾病基因发现方面有大量研究，但对于人群生物样本库是否以及在多大程度上可用于将基因组学发现转化为治疗诊断测试的实际治疗指南，几乎没有概念性的研究。
