IRIS: Incorporating Research Into Sight

IRIS：将研究融入视野

• 批准号: 8330462
• 负责人: CATHERINE ANNE MCCARTY
• 金额: $ 15.15万
• 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/8330462
• 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）：该项目的主要目标是首先开发和验证电子算法，准确识别每种眼科表型的病例和对照，并进行全基因组关联研究，以增进我们对这些疾病状态及其影响的理解。治疗。下一个目标是将具有临床意义的结果转化为临床实践。马什菲尔德诊所是转化研究的理想场所，部分原因是内部开发的电子健康记录有助于及时将研究结果与医疗保健提供者必要的决策支持工具结合起来。具体目标包括： 1. 开发和验证眼科疾病的电子算法以及眼科疾病药物治疗的功效，并实施在 eMERGE 网络上开发的其他表型算法。目标 1开发和验证针对高眼压/青光眼、眼压 (IOP) 降低药物的反应、AMD、AMD 治疗的反应、泪膜不足、对用于治疗泪膜不足的人工泪液的反应的电子算法。表型在其他 eMERGE 站点开发并与其他站点共享数据。 2. 利用 Marshfield 近 5000 名 50 岁及以上研究受试者的 GWAS 数据以及 eMERGE 网络中另外 20-25,000 名受试者的数据，开展眼科疾病和眼科药物遗传学的遗传发现。统计分析将包括使用 SNP 数据的传统 GWAS、拷贝数变异 (CNV) 数据分析以及基因/环境分析。 3. 与广大社区和临床医生开展有关将 GWAS 结果纳入电子健康记录以告知医疗保健决策的咨询活动。目标 3a。与眼科医生就基于基因的处方目标 3b 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同意，以允许共享遗传数据目标 3c。与整个 PMRP 队列就结果返回和研究进度 Aim 3d 进行沟通。根据目标 3e 咨询工作的结果，联系所有拥有 GWAS 数据的受试者，以获得与他们自己和/或其医疗保健提供者共享 GWAS 数据的同意。将临床相关的 GWAS 数据纳入眼科医生和验光师的 EMR 中 相关性：随着人口老龄化，视力障碍变得越来越普遍，影响生活质量和医疗保健费用。拟议的项目将确定青光眼/高眼压症（失明的第二大原因）、年龄相关性黄斑变性（老年人失明的主要原因）和干眼症的基因/环境预测因子，以及对青光眼/高眼压症反应的基因预测因子。针对这些情况的药物治疗。使用具有临床意义的 GWAS 数据可以节省视力和医疗保健费用。