Genomic Medicine Pilot For Hypertension And Kidney Disease In Primary Care

初级保健中高血压和肾脏疾病的基因组医学试点

• 批准号: 9266157
• 负责人: Carol R Horowitz
• 金额: $ 89.14万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-05-01 至 2018-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9266157
• 关键词: Address; Adopted; Adoption; Adult; Affect; African; African American; Albuminuria; Alleles; American; Angiotensins; Area; Attitude; Belief; Blood; Caring; Chromosomes, Human, Pair 22; Chronic Disease; Chronic Kidney Failure; Clinical; Clinical Decision Support Systems; Cluster randomized trial; Communities; Community Health Centers; Computerized Medical Record; Consent; Counseling; Diabetes Mellitus; Diagnostic; Disease Progression; End stage renal failure; Family; Family health status; Genomic medicine; Genomics; Health; Hypertension; Institutes; Institution; Kidney; Kidney Diseases; Kidney Failure; Knowledge; Medical center; New York City; Onset of illness; Outcome; Patient-Focused Outcomes; Patients; Pharmacogenomics; Pilot Projects; Population; Practice Guidelines; Primary Health Care; Probability; Process; Protocols documentation; Provider; Recording of previous events; Renin; Risk; Risk Factors; System; Technology; Testing; Translating; Urine; base; blood pressure regulation; cardiovascular risk factor; clinical care; clinical risk; disorder risk; end stage disease; evidence base; exome; experience; genome sequencing; health disparity; high risk; improved; insight; modifiable risk; non-diabetic; personalized medicine; point of care; primary care setting; programs; prospective; prototype; randomized trial; screening; tumor; underserved minority

DESCRIPTION (provided by applicant): Robust systems to consent, screen, return results, and to evaluate processes and outcomes of incorporating genomic risk information in clinical care for common chronic diseases are missing and urgently needed. We propose that hypertension-associated CKD in African ancestry communities has emerged as a highly relevant and well-suited opportunity for a 'prototype' genomic medicine demonstration project that addresses common chronic illnesses managed in primary care settings. African ancestry populations with hypertension (HTN) have 2- to 3-fold higher risk of developing CKD, and a 5-fold increased risk to progress to end stage renal disease (ESRD) when compared with whites. Recent discoveries demonstrate that testable alleles of the APOL1 locus on chromosome 22 have a major effect on and explain almost all of the excess risk for hypertension-associated CKD and its progression to ESRD in African ancestry populations. In this genomic medicine demonstration pilot project, we plan to implement a cluster randomized trial at primary care facilities of a network of community health centers in Harlem and the Bronx and at Mount Sinai Medical Center. The trial will test whether the desperately low probabilities of correct renal care i.e. appropriate ordering of tests to evaluate CKD and CKD progression, appropriate prescription of renoprotective renin angiotensin blockade, appropriate control of blood pressure in hypertensive patients with albuminuria of African ancestry, will be improved significantly in those facilities that receive EMR-enabled renal care CDS incorporating APOL1 genomic risk information compared with those facilities that receive renal care CDS based on conventional risk information only. The project will have three Specific Aims: 1) Understand knowledge, attitudes, beliefs about testing for APOL1, returning results, and engaging people of African ancestry and their clinicians into a process of testing, counseling and appropriate clinical care. 2) Develop systems and evidence-based advice messages to enable point of care Clinical Decision Support (CDS) for primary care providers advising renal care practice guidelines with our without genomic APOL1 risk information. 3) Conduct a cluster randomized trial assigning eight distinct primary care facilities to receive either renal care CDS with APOL1 genomic risk information (GENOMIC RENAL CARE FACILITY) or with conventional risk information (CONVENTIONAL RENAL CARE FACILITY) to guide primary care for non-diabetic African Americans with hypertension. In the long-term, the proposed genomic medicine demonstration pilot project is expected to generate essential new insights for sustainable adoption and large-scale dissemination of genomic medicine in diverse clinical settings providing care for common adult-onset diseases in general, and for underserved African Ancestry populations with large excess burden of non-diabetic kidney diseases specifically.

描述（由申请人提供）：目前缺少用于同意、筛选、返回结果以及评估将基因组风险信息纳入常见慢性病临床护理的流程和结果的强大系统，但急需这些系统。我们认为，非洲血统社区中与高血压相关的 CKD 已成为“原型”基因组医学示范项目的一个高度相关且非常合适的机会，该项目旨在解决初级保健机构中管理的常见慢性疾病。与白人相比，患有高血压 (HTN) 的非洲裔人群患 CKD 的风险高出 2 至 3 倍，进展为终末期肾病 (ESRD) 的风险高出 5 倍。最近的发现表明，22 号染色体上 APOL1 基因座的可测试等位基因对非洲血统人群中高血压相关 CKD 及其进展为 ESRD 的几乎所有超额风险具有重大影响并解释了这一点。在这个基因组医学示范试点项目中，我们计划在哈莱姆区和布朗克斯区社区卫生中心网络的初级保健机构以及西奈山医疗中心实施整群随机试验。该试验将测试非洲血统的患有蛋白尿的高血压患者中，正确的肾脏护理的可能性极低，即评估 CKD 和 CKD 进展的适当的测试顺序、适当的肾保护性肾素血管紧张素阻断处方、适当的血压控制。与仅接受基于传统风险信息的肾脏护理 CDS 的机构相比，接受包含 APOL1 基因组风险信息的支持 EMR 的肾脏护理 CDS 的机构显着增加。 该项目将有三个具体目标：1) 了解有关 APOL1 检测、返回结果的知识、态度和信念，并让非洲血统的人及其临床医生参与检测、咨询和适当的临床护理过程。 2) 开发系统和基于证据的建议消息，为初级保健提供者提供护理点临床决策支持 (CDS)，利用无基因组 APOL1 风险信息为肾脏保健实践指南提供建议。 3) 进行一项整群随机试验，指定八个不同的初级保健机构接受带有 APOL1 基因组风险信息（基因组肾脏护理设施）或传统风险信息（常规肾脏护理设施）的肾脏护理 CDS，以指导非糖尿病非洲人的初级护理患有高血压的美国人。从长远来看，拟议的基因组医学示范试点项目预计将为基因组医学在不同临床环境中的可持续采用和大规模传播产生重要的新见解，为一般成人发病的常见疾病和服务不足的非洲提供护理特别是具有大量非糖尿病肾病负担的祖先人群。