IRIS: Incorporating Research Into Sight

IRIS：将研究融入视野

• 批准号: 8514886
• 负责人: CATHERINE ANNE MCCARTY
• 金额: $ 40.89万
• 依托单位: ESSENTIA INSTITUTE OF RURAL HEALTH
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-08-15 至 2015-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8514886
• 关键词: Age; Age related macular degeneration; Algorithms; Artificial Tears; Blindness; Caring; Clinic; Communities; Consent; Consultations; Data; Data Analyses; Disease; Doctor of Philosophy; Elderly; Electronic Health Record; Electronics; Environment; Eye; Film; Focus Groups; Genes; Genetic; Genotype; Glaucoma; Goals; Health Care Costs; Health Personnel; Healthcare; Medical; Newsletter; Ocular Hypertension; Ophthalmologist; Optometrist; Pharmaceutical Preparations; Pharmacogenetics; Phenotype; Physicians; Physiologic Intraocular Pressure; Population; Principal Investigator; Quality of life; Research; Research Subjects; Site; Study Subject; Translating; Translational Research; Variant; Vision; Vision Disorders; aged; base; case control; clinical practice; clinically relevant; cohort; data sharing; eye dryness; gene discovery; gene environment interaction; genome wide association study; meetings; response; tool

DESCRIPTION (provided by applicant): The primary goals of this project are first to develop and validate electronic algorithms, to accurately identify cases and controls for each ophthalmic phenotype, and to conduct genome wide association studies that advance our understanding of these disease states and their treatment. The next goal will be to translate clinically meaningful results into clinical practice. The Marshfield Clinic is an ideal setting for translational research, in part because an internally-developed electronic health record facilitates timely incorporation of research results with necessary decision support tools for health care providers. Specific aims include: 1. Develop and validate electronic algorithms for ophthalmic conditions and efficacy of medical therapy for ophthalmic conditions and implement other phenotype algorithms developed across the eMERGE network. Aim 1 a. Develop and validate electronic algorithms for ocular hypertension/glaucoma, intraocular pressure (lOP) response to lOP lowering medications, AMD, response to AMD treatment, tear film insufficiency, response to artificial tears used to treat tear film insufficiency Aim lb. Implement electronic algorithms for phenotypes developed at the other eMERGE sites and share data with the other sites. 2. Leverage GWAS data available for nearly 5000 research subjects aged 50 years and older in Marshfield and an additional 20-25,000 subjects throughout the eMERGE network to undertake genetic discoveries for ophthalmic conditions and ophthalmic pharmacogenetics. Statistical analyses will include traditional GWAS using the SNP data, analysis of copy number variant (CNV) data, and gene/environment analyses. 3. Undertake consultation activities with the general community and clinicians related to the incorporation of GWAS results into electronic health records to inform health care decisions. Aim 3a. Conduct focus group discussion with ophthalmologists related to genetic-based prescribing Aim 3b. Meet with the PMRP Community Advisory Group to discuss potential reconsent of study subjects to allow the sharing of genetic data Aim 3c. Communicate with the entire PMRP cohort about return of results and study progress Aim 3d. Contact all subjects with GWAS data to obtain consent to share their GWAS data with themselves and/or their health care providers, based on the results of the consultation efforts Aim 3e. Incorporate clinically relevant GWAS data in the EMRs for ophthalmologists and optometrists RELEVANCE: With the ageing of the population, vision disorders are becoming more common, impacting quality of life and health care costs. The proposed project will identify gene/environment predictors of glaucoma/ocular hypertension (the second leading cause of blindness), age-related macular degeneration (the leading cause of blindness in the elderly) and dry eye, as well as genetic predictors of response to medical therapy for these conditions. Use of clinically meaningful GWAS data could save sight and health care costs.

描述（由申请人提供）：该项目的主要目标首先是为了开发和验证电子算法，准确地确定每个眼科表型的病例和控制，并进行广泛的基因组关联研究，以提高我们对这些疾病状态及其治疗的理解。下一个目标是将临床意义的结果转化为临床实践。 Marshfield诊所是转化研究的理想环境，部分原因是内部发达的电子健康记录有助于及时纳入研究结果，并为医疗保健提供者提供必要的决策支持工具。具体目的包括：1。开发和验证电子算法的眼科疾病和医疗疗法对眼科条件的疗效，并实施整个Emerge网络中开发的其他表型算法。目标1 a。开发和验证电子高血压/青光眼，眼内压（LOP）对LOP降低药物的反应，AMD，对AMD治疗的反应，撕裂膜的反应，用于治疗撕裂膜不足的反应的反应，用于治疗其他emerge Site和其他emerge Sere and Data Data and Sermant and share sopare and Sermane and Data Data and share and share and Sermate and sopare and sopare and sopare and sopare and share and Data and Data and sopare and sopare and share and share and sopare and sopare and and emerge。 2。利用GWAS数据可用于Marshfield的近5000名50岁及50岁以上的研究对象，以及整个Emerge网络中的另外20-25,000名受试者，可为眼科条件和眼科药物遗传学提供遗传发现。统计分析将使用SNP数据，拷贝数变体（CNV）数据的分析以及基因/环境分析的传统GWA。 3.与将GWAS结果纳入电子健康记录的一般社区和临床医生进行咨询活动，以告知医疗保健决策。目标3a。与与基于遗传的处方AIM 3B有关的眼科医生进行焦点小组讨论。与PMRP社区咨询小组会面，讨论研究对象的潜在重新评估，以允许共享遗传数据目标3C。与整个PMRP队列进行有关结果的回归和研究进度目标3D进行沟通。通过咨询工作的结果AIM 3E，请与GWAS数据联系所有受试者，以获得同意与自己和/或其医疗保健提供者共享其GWAS数据。将眼科医生和验光师的EMR中纳入临床相关的GWAS数据 相关性：随着人口的衰老，视力障碍变得越来越普遍，影响了生活质量和医疗保健成本。拟议的项目将确定青光眼/眼高血压的基因/环境预测因素（失明的第二大主要原因），与年龄相关的黄斑变性（老年人失明的主要原因）和干眼症以及这些条件下对医疗治疗的反应的遗传预测指标。使用临床上有意义的GWAS数据可以节省视力和医疗保健费用。