Genomic Medicine Pilot For Hypertension And Kidney Disease In Primary Care

描述（由申请人提供）：缺乏强大的系统来同意，筛选，返回结果，并评估将基因组风险信息纳入常见慢性病临床护理的过程和结果。我们建议，高血压相关的慢性肾脏病在非洲血统的社区已经成为一个高度相关的和非常合适的机会，一个“原型”基因组医学示范项目，解决常见的慢性疾病在初级保健环境管理。与白人相比，患有高血压（HTN）的非洲血统人群发生CKD的风险高2至3倍，进展为终末期肾病（ESRD）的风险高5倍。最近的发现表明，22号染色体上APOL 1基因座的可检测等位基因对非洲血统人群中高血压相关CKD及其进展为ESRD的几乎所有过度风险具有重大影响并解释了这些风险。在这个基因组医学示范试点项目中，我们计划在哈莱姆和布朗克斯的社区卫生中心网络的初级保健设施和西奈山医疗中心实施一项群集随机试验。该试验将测试正确的肾脏护理的极低概率，即评估CKD和CKD进展的适当检查顺序，肾保护性肾素血管紧张素阻断剂的适当处方，非洲血统的高血压蛋白尿患者的血压适当控制，将在接受EMR的设施中得到显著改善-与仅基于常规风险信息接收肾脏护理CDS的机构相比，纳入APOL 1基因组风险信息的启用肾脏护理CDS。 该项目将有三个具体目标：1）了解知识，态度，对APOL 1测试的信念，返回结果，并使非洲血统的人及其临床医生参与测试，咨询和适当的临床护理过程。2)开发系统和循证建议信息，以便为初级保健提供者提供床旁临床决策支持（CDS），为肾脏护理实践指南提供建议，其中包含我们的无基因组APOL 1风险信息。3)进行一项分组随机试验，分配8家不同的初级保健机构接受含APOL 1基因组风险信息（基因肾保健因子）或常规风险信息（常规肾保健因子）的肾保健CDS，以指导非糖尿病非洲裔美国人高血压患者的初级保健。从长远来看，拟议的基因组医学示范试点项目预计将产生重要的新见解，促进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，为一般常见的成人发病疾病提供护理，并为非洲服务不足的非糖尿病肾病人群提供特别的额外负担。

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.