Personalized Genomic Medicine as a Goal for Translational Genomic Research

为什么要进行转化基因组学研究？最突出的推动愿望是期望TGR将迎来一个医疗保健“个性化基因组医学”的时代。正如前NIH主任Ellas Zerhouny在为他的翻译“路线图”倡议辩护时所说的那样（从那以后，各地的医学院院长都在呼应），“我预测，全面的基于基因组学的医疗保健将成为常态，个人预防医学和早期发现疾病。“[（1）]我们对这一愿景的初步探索已经表明，从ELSI的角度来看，这样一个结果有很多值得思考的地方，而且在它可能引发的各种伦理、法律的和社会问题上，已经开始出现了很好的工作。我们的计划是在这些开端的基础上，阐明这一愿景中不同利益相关者利益之间的联系， 这些相关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建议。 PGM已成为一面旗帜，团结了各种科学，临床和商业计划。“这种多样性产生了对PGM对医学意义的广泛解释，任何单一的利益相关者分析都无法捕捉到太多的多样性。出于这个原因，该项目将锚其工作在四个重点领域，与PGM有关，从实验室到床边的理想转化途径上的连续更接近的点：（1）人类微生物组计划和临床宏基因组学;（2）转化研究人员对PGM的看法;（3）基因组风险评估的临床吸收;（4）生殖遗传检测。 对于每一种情况，PGM项目都将实现以下三个具体目标： 目标2.描述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，包括对转化基因组研究目标的信念、商业激励和医疗保健提供者对个性化基因组服务的态度。 目标1。了解利益相关者对每种情况下设想的个性化基因组医学形式的承诺和风险的理解。 目标3.为了评估与PGM的美德潜在相关的社会和伦理风险将被我们确定的利益相关者的利益加剧或减轻的程度，为了建议卫生政策和医疗实践的选择，将不得不作出TGR接近其转化途径的结束。

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.