Personalized Genomic Medicine as a Goal for Translational Genomic Research

为什么要进行基因组翻译研究？最突出的推动愿望是期待TGR将迎来医疗保健的“个性化基因组医学”时代。正如NIH前主任Ellas Zerhouny在为他的翻译“路线图”倡议辩护时所说的那样(自那以后，各地的医学院院长一直在呼应)，“我预测，随着个人预防医学和疾病的早期发现，基于基因组的全面医疗保健将成为常态。”[(1)]我们对这一愿景的初步探索已经表明，从ELSI的角度来看，这样的结果有很多值得思考的地方，并且在它可能引发的各种伦理、法律和社会问题上开始出现良好的工作。我们的计划是在这些起点的基础上，阐明这个愿景中不同利益相关者之间的联系， 这些相互关联的利益如何塑造它在我们社会中的实现，以及这对卫生政策和医疗实践的启示。 PGM已经成为一面旗帜，将一系列不同的科学、临床和商业计划联合在一起。这种多样性产生了对PGM对医学意味着什么的广泛解释，对于任何单一的利益相关者分析来说，这是太多的多样性。出于这个原因，该项目将在与PGM相关的四个重点领域开展工作，从从工作台到床边的理想翻译路径上依次接近的点：(1)人类微生物组计划和临床元基因组学；(2)翻译研究人员对PGM的愿景；(3)临床对基因组风险评估的接受；(4)生殖基因测试。 对于上述每一种情况，PGM项目将实现以下三个具体目标； 目的2.表征将影响基因组研究向个性化医疗服务转化的关键科学概念、社会决定因素、公众理解和专业态度，包括对翻译基因组研究目标的信念、商业激励以及卫生保健提供者对个性化基因组服务的态度。 目的1.了解利益相关者对每个案例中设想的个性化基因组医学形式的承诺和危险的理解。 目的3.评估潜在的与PGM美德相关的社会和道德风险将在多大程度上因我们确定的利益相关者利益而加剧或减轻，以建议在TGR接近其转换路径的尽头时必须做出的卫生政策和医疗实践选择。

Why conduct translational genomic research? The most prominently promoted aspiration is the expectation that TGR will usher in an era of "personalized genomic medicine" for health care. As former NIH Director Ellas Zerhouny put it In defending his translational "Roadmap" initiatives (and medical school Deans everywhere have been echoing since), "I predict that comprehensive genomics-based health care will become the norm, with individual preventive medicine and early detection of illness."[(1)] Our preliminary explorations of this vision already suggest that there is plenty to ponder in such an outcome from an ELSI point of view, and good work is beginning to emerge on the various ethical, legal, and social questions it could provoke. Our plan is to build on these beginnings to illuminate the connections between different stakeholder interests in this vision, the way those connected interests could shape its realization in our society, and what this suggests for health policy and medical practice. PGM has become a banner that unites a diverse array of scientific, clinical, and commercial initiatives, ." That variety generates a wide range of interpretations of what PGM means for medicine, too much variety for any univocal stakeholder analysis to capture. For that reason, this project will anchor its work in four focal areas that relate to PGM, from successively closer points on the ideal translational pathway from bench to bedside: (1) the Human Microbiome Project and clinical metagenomics; (2) visions of PGM among translational researchers; (3) clinical uptake of assessments of genomic risk; (4) reproductive genetic testing. For each of these cases, the PGM project will address the following three specific aims; Aim 2. To characterize key scientific concepts, social determinants, public understandings, and professional attitudes that will Impact the translation of genomic research to personalized medical services, including beliefs about the goals of translational genomic research, commercial incentives, and health care provider attitudes about personalized genomic services. Aim 1. To understand stakeholder understandings of the promises and perils of the forms of personalized genomic medicine envisioned in each case. Aim 3. To evaluate the extent to which the social and ethical risks potentially associated with PGM's virtues will be exacerbated or mitigated by the stakeholder interests we identify, in order to suggest the health policy and medical practice choices that will have to be made as TGR approaches the end of its translational pathway.