Genomic Medicine Implementation: The Personalized Medicine Program

基因组医学实施：个性化医疗计划

• 批准号: 9244300
• 负责人: JULIE A. JOHNSON
• 金额: $ 57.62万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-06-16 至 2018-09-20
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9244300
• 关键词: Address; Adoption; Antiplatelet Drugs; Boxing; CYP2C19 gene; Cardiac health; Cardiology; Caring; Clinical; Clinical Informatics; Community Healthcare; Community Hospitals; Complex; Computerized Medical Record; Custom; Development; Disease; Florida; Future; Genetic; Genetic Determinism; Genetic screening method; Genome; Genomic medicine; Genomics; Genotype; Goals; Group Practice; Health; Health Occupations; Health Personnel; Health system; Healthcare Systems; Hospitals; Individual; Institutes; Institution; Knowledge; Label; Level of Evidence; Literature; Longevity; Medical Records; Medicine; Methods; Modeling; Patient Care; Patient-Focused Outcomes; Patients; Pharmaceutical Preparations; Pharmacogenetics; Physicians; Recommendation; Research Infrastructure; Series; Single Nucleotide Polymorphism; Students; Technology; Translations; Uncertainty; United States Food and Drug Administration; Universities; University Hospitals; base; clinical care; clinical practice; clopidogrel; college; disorder risk; expectation; experience; genetic information; genome sequencing; improved; improved outcome; innovation; novel; patient population; personalized medicine; programs; response; success; time use; whole genome

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.

描述（由申请人提供）：过去十年，人们对疾病风险和药物反应的遗传决定因素有了重大发现，同时基因分型技术取得了惊人的进步，人们期望个人的个人基因组最终将成为其医疗记录的一部分，以指导其一生的护理决策。然而，尽管取得了这些进展，这些信息转化为临床实践的程度却很少。我们最近在佛罗里达大学和 Shands 医院启动了一项基因组医学计划（UF&Shands 个性化医疗计划 (PMP)），旨在促进基因组信息的临床利用，以优化患者护理。我们的计划建立在三个指导原则之上。 1) 有一个监管机构评估文献，以确定证据水平何时足以保证临床实施，并在发生这种情况时，制定有关遗传信息使用的具体建议； 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，这样信息可以一次性生成，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示例，但我们已经建立了该计划，以便将药物遗传学和遗传学发现更广泛地转化为临床实践。在过去的一年里，我们建立了支持 PMP 所需的机构基础设施，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医疗机构中实施类似的计划。我们的具体目标是： 具体目标 1. 通过扩展到更广泛的患者群体以及临床决策所依据的其他药物基因型组合，扩大和评估药物遗传学信息临床实施的影响，以指导 UF&Shands 的治疗决策。具体目标 2. 在 UF&Shands 卫生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 (Orlando Health Heart Institute)，这是一家私人心脏病学团体诊所，隶属于大型私人卫生系统奥兰多健康中心 (Orlando Health)，以及 b) 通过佛罗里达州立大学 (FSU) 医学院实践网络的一家小型社区医院。具体目标 3. 为了确保有关基因组医学的知识达到适当水平，制定并实施创新的基因组医学教育计划： 3a．医生和其他医疗保健提供者； 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显着改善患者的治疗结果。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益处，每一个目标都通过我们提出的目标来解决。