Genomic Medicine Implementation: The Personalized Medicine Program

描述（由申请人提供）：过去十年中，疾病风险和药物反应的遗传决定因素有了实质性发现，沿着基因分型的惊人技术进步，人们期望个体的个人基因组最终将成为其医疗记录的一部分，以指导其整个生命周期的护理决策。然而，尽管取得了这些进展，但这些信息在临床实践中的转化很少。我们最近在佛罗里达大学和Shands医院启动了一个基因组医学项目（UF&Shands个性化医学项目（PMP）），旨在推进基因组信息的临床利用，以优化患者护理。我们的计划是建立在三个指导原则。1)有一个监管机构评估文献，以确定何时证据水平足以保证临床实施，并且当这种情况发生时，制定关于使用遗传信息的具体建议; 2）最有效的实施方式是通过广泛的、先发制人的基因分型芯片，使得信息可以一次生成，并在患者的整个生命周期中使用; 3）该程序必须通过电子医疗记录内的特定信息学临床决策支持来支持，以便临床医生收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计划。在过去的一年里，我们建立了必要的机构基础设施，以支持PMP，现在准备扩大该计划，并利用我们的经验，在大型，私人卫生系统和社区卫生保健设置实施类似的计划。我们的具体目标是：具体目标1。扩展和评估药物遗传学信息的临床实施的影响，以指导UF&Shands的治疗决策，通过扩展到更广泛的患者人群和临床决策所依据的其他药物基因型组合。具体目标2。在用友和尚兹卫生系统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的做法，是奥兰多健康的一部分，一个大型的私人卫生系统，和，B）通过佛罗里达州立大学（FSU）医学实践网络学院的一个小型社区医院。具体目标3。为了确保有关基因组医学知识的适当水平，开发和实施创新的基因组医学教育计划：3a。医生和其他保健提供者; 3b.卫生专业学生;和3c.患者将基因组医学应用于患者护理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，将基因组信息纳入现有的，复杂的医疗保健系统，并记录基因组医学的好处，其中每一个都是我们提出的目标。

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.