Personalized Genomic Medicine as a Goal for Translational Genomic Research

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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.