Genomic Medicine Implementation: The Personalized Medicine Program

基因组医学实施：个性化医疗计划

• 批准号: 8682896
• 负责人: JULIE A. JOHNSON
• 金额: $ 97.87万
• 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 2017-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8682896
• 关键词: Address; Adoption; Antiplatelet Drugs; Boxing; CYP2C19 gene; 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; Genomics; Genotype; Goals; Group Practice; Health; Health Occupations; Health Personnel; Health system; Healthcare Systems; Heart; Hospitals; Individual; Institutes; Institution; Knowledge; Label; Level of Evidence; Literature; Longevity; Medical Records; Medicine; Methods; Modeling; Outcome; Patient Care; 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; genome sequencing; improved; innovation; novel; patient population; programs; public health relevance; response; success; time use

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）：过去十年来，已经看到了疾病风险和药物反应的遗传决定因素的实质性发现，以及基因分型方面的惊人技术进步，导致人们期望个人的个人基因组最终成为其医疗记录的一部分，以指导整个生命周期的护理决策。但是，尽管有这些进展，但这些信息转换为临床实践的转换很少。我们最近在佛罗里达大学和Shands医院（UF＆Shands个性化医学计划（PMP））启动了一项基因组医学计划，该计划旨在提高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上。 1）有一个监管机构评估文献以确定何时足以保证临床实施的证据水平，并且何时发生这种证据，就提出了有关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，以便可以生成一次信息，并在患者的寿命中使用； 3）必须通过电子病历中的特定信息学临床决策支持来支持该计划，因此临床医生会收到明确的建议，以指导使用遗传信息。 UF＆Shands PMP目前专注于一个药物遗传学例子，但是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程序。在过去的一年中，我们建立了必要的机构基础设施，以支持PMP，现在有望扩大该计划，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计划。我们的具体目的是：特定目标1。扩展和评估药物遗传信息的临床实施的影响，以通过扩展到更广泛的患者人群以及对临床决策基于临床决策的其他药物基因型组合来指导UF＆SHAND的治疗决策。具体目的2。在UF＆Shands卫生系统以外的各种机构中实施并评估PMP，包括a）奥兰多健康心脏研究所，这是一个私人心脏病学集团实践，是奥兰多卫生的一部分，大型的私人卫生系统，以及b）通过佛罗里达州立大学（FSU）医学实践网络的小型社区医院。具体目标3。确保有关基因组医学的适当知识水平，开发和实施创新的基因组医学教育计划：3a。医师和其他医疗保健提供者； 3b。卫生专业学生；和3C。患者。将基因组医学实施到患者护理中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，以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，每种医学都是由我们提出的目标解决的。