Genomic Medicine Implementation: The Personalized Medicine Program

描述（由申请人提供）：在过去的十年中，人们发现了疾病风险和药物反应的遗传决定因素，以及基因分型方面惊人的技术进步，导致人们期望个人的个人基因组最终将成为他们医疗记录的一部分，以指导他们一生的护理决策。然而，尽管取得了这些进展，但将这些信息转化为临床实践的可能性很小。我们最近在佛罗里达大学和尚兹医院启动了一个基因组医学项目（UF&Shands个性化医疗项目（PMP）），旨在推进基因组信息的临床应用，以优化患者护理。我们的计划建立在三个指导原则之上。1)有一个监管机构对文献进行评估，以确定何时证据水平足以保证临床实施，当这种情况发生时，就遗传信息的使用提出具体建议；2)最有效的实施方式是通过一个广泛的、先发制人的基因分型芯片，这样信息可以一次生成，并在患者的整个生命周期中使用；3)该计划必须通过电子病历中特定的信息学临床决策支持来支持，以便临床医生得到明确的建议来指导遗传信息的使用。UF&Shands PMP目前专注于药物遗传学的例子，但我们已经建立了将药物遗传学和遗传学发现更广泛地转化为临床实践的项目。在过去的一年里，我们建立了必要的机构基础设施来支持PMP，现在我们准备扩大该项目，并利用我们的经验在大型私人卫生系统和社区卫生保健环境中实施类似的项目。我们的具体目标是：扩大和评估药物遗传信息的临床实施的影响，通过扩大到更广泛的患者群体和临床决策所依据的其他药物基因型组合来指导UF&Shands的治疗决策。具体目标2。在UF&Shands健康系统以外的不同机构实施和评估PMP，包括a)奥兰多健康心脏研究所，一个私人心脏病学小组实践，是奥兰多健康的一部分，一个大型的私人健康系统，b)通过佛罗里达州立大学医学院实践网络的一个小型社区医院。具体目标3。确保适当的基因组医学知识水平，开发和实施创新的基因组医学教育计划：医生和其他保健提供者；3 b。卫生专业学生；和3 c。病人。在患者护理中实施基因组医学有可能大大改善患者的预后。实现这些目标需要开发和实施成功的方法，将基因组信息整合到现有的、复杂的医疗保健系统中，并记录基因组医学的好处，这些都是我们提出的目标所涉及的。

DESCRIPTION (provided by applicant): The last decade has seen substantial discoveries of genetic determinants of disease risk and drug response, along with staggering technological advances in genotyping, leading to the expectation that an individual's personal genome will eventually be part of their medical record, to guide care decisions across their lifespan. However, despite these advances, there has been minimal translation of this information to clinical practice. We recently launched a genomic medicine program at the University of Florida and Shands Hospital (the UF&Shands Personalized Medicine Program (PMP)), which seeks to advance the clinical utilization of genomic information to optimize patient care. Our program is built on three guiding principles. 1) There is a regulatory body that evaluates the literature to determine when the level of evidence is sufficient to warrant clinical implementation, and when this occurs, develops specific recommendations regarding use of the genetic information; 2) the most efficient manner of implementation is through a broad, pre-emptive genotyping chip, such that information can be generated once, and used across the patient's lifespan; 3) the program must be supported through specific informatics clinical decision support within the electronic medical record so the clinician receives clear recommendations to guide use of the genetic information. The UF&Shands PMP is currently focused on a pharmacogenetic example, but we have built the program for wider translation of pharmacogenetics and genetics findings into clinical practice. During the past year we established the institutional infrastructure necessary t support the PMP, and are now poised to expand the program, and use our experiences to implement similar programs in large, private health systems, and community healthcare settings. Our specific aims are to: Specific Aim 1. Expand and assess the impact of the clinical implementation of pharmacogenetic information to guide treatment decisions at UF&Shands through expansion to broader patient populations and to additional drug-genotype combinations on which clinical decisions are based. Specific Aim 2. Implement and assess the PMP at diverse institutions outside the UF&Shands Health System, including a) the Orlando Health Heart Institute, a private cardiology group practice that is part Orlando Health, a large, private health system, and, b) a small community hospital through the Florida State University (FSU) College of Medicine practice network. Specific Aim 3. To insure appropriate levels of knowledge about genomic medicine, develop and implement innovative genomic medicine educational programs for: 3a. physicians and other health-care providers; 3b. health professions students; and 3c. patients. Implementation of genomic medicine into patient care has the potential to substantially improve outcomes of patients. Achieving these goals requires development and implementation of successful approaches for incorporation of genomic information into existing, complex healthcare systems, and documenting benefit of genomic medicine, each of which are addressed by our proposed aims.