Community-Based Evaluation of APOL1 Genetic Testing in African Americans

非裔美国人 APOL1 基因检测的社区评估

基本信息

批准号：
9144421
负责人：
WYLIE G. BURKE
金额：
$ 64.62万
依托单位：
UNIVERSITY OF WASHINGTON
依托单位国家：
美国
项目类别：
财政年份：
2015
资助国家：
美国
起止时间：
2015-09-15 至 2018-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9144421
关键词：
Address Affect African American Age Anxiety Apolipoproteins Area Benefits and Risks Chronic Kidney Failure Clinical Communities Confusion Consensus Data Educational Materials Ensure Environmental Exposure Family member Feedback General Population Genes Genetic screening method Goals Individual Inherited Injury Interview Kidney Kidney Diseases Kidney Failure Kidney Transplantation Knowledge Participant Patients Persons Policies Policy Maker Population Prevention Primary Health Care Principal Investigator Professional Organizations Protocols documentation Provider Reporting Research Research Personnel Risk Science Testing Time Uncertainty United States Variant advocacy organizations base clinical care community based evaluation ethnic minority population experience high risk informant meetings member non-diabetic preference programs public health relevance racial minority risk variant social stigma

项目摘要

DESCRIPTION (provided by applicant): Endstage renal disease (ESRD) or kidney failure affects over 500,000 persons in the United States and disproportionately affects racial and ethnic minority populations. Compared to whites, African Americans are 2-4 times more likely to develop ESRD, and represent 32% of the ESRD population, while only representing 13% of the US population. Two independent variants of the Apolipoprotein L1 (APOL1) gene, G1 and G2, have been associated with a 7 to 10-fold greater risk of developing non-diabetic ESRD in African Americans. Furthermore, people who inherit two risk variants (G1/G1, G2/G2 or G1/G2) are also more likely to develop ESRD at a younger age, and Individuals receiving donor kidneys from deceased individuals with two risk variants experience shorter kidney transplant survival. It is not known whether everyone with high- risk genotypes will develop ESRD; the exact mechanism of injury for APOL1-related risk or its relation to environmental exposures; or whether those with co-morbid conditions are more likely to develop ESRD. To address these uncertainties, research that includes assessment of APOL1 status will be needed. APOL1 testing may also be offered to African American patients to guide management of chronic kidney disease (CKD) or as part of prevention efforts aimed at reducing kidney disease, and has been proposed as part of kidney transplant protocols. Yet because of uncertainties regarding the clinical implications of APOL1 variants, testing could also generate confusion, anxiety or stigma. Multiple forms of evidence, including the views of community members, are needed to support responsible approaches to providing information about APOL1 status in research and clinical care. Research Goal: To determine African-American community views concerning the risks and benefits of returning information about APOL1 risk variants to research participants and testing for APOL1 risk variants in clinical care and renal transplant programs, and to promote inclusion of those views in policy discussions. To that end, the specific aims of the proposal are: Aim 1: Conduct key informant interviews with researchers, clinicians, community leaders, and African Americans with and without kidney disease, to determine their views about providing APOL1 results to research participants and utilizing APOL1 testing in clinical care, and renal transplant programs. Aim 2: Conduct three community-based deliberative groups to identify community preferences and priorities for responsible approaches to providing APOL1 results to research participants and utilizing APOL1 testing in clinical care and renal transplant programs. Aim 3: Convene a national meeting of stakeholders to review the current science of APOL1-related kidney disease, review findings of the deliberative groups, and develop guidance for policy-makers. The successful completion of this project will provide community-based guidance to researchers, clinicians and policy makers regarding the return of APOL1 results in research and the use of APOL1 testing in clinical care. PHS 398/2590 (Rev. 09/04, Reissued 4/2006)

描述（由申请人提供）：美国有超过 500,000 人患有终末期肾病 (ESRD) 或肾衰竭，并且对少数族裔人口的影响尤为严重，与白人相比，非裔美国人患 ESRD 的可能性高出 2-4 倍。占 ESRD 人群的 32%，而仅占美国人群的 13%。载脂蛋白 L1 (APOL1) 基因的两个独立变体 G1 和G2 与非洲裔美国人患非糖尿病 ESRD 的风险增加 7 至 10 倍有关，此外，遗传两种风险变异（G1/G1、G2/G2 或 G1/G2）的人也更有可能患上非糖尿病 ESRD。罹患终末期肾病 (ESRD) 的年龄较轻，并且接受来自具有两种风险变异的已故个体的供体肾脏的个体的肾移植存活期较短。与 APOL1 相关的风险或其与环境暴露的关系；或者患有合并症的人是否更有可能发展为 ESRD，还需要进行包括 APOL1 状态评估在内的研究。非洲裔美国患者指导慢性肾病 (CKD) 的治疗或作为旨在减少肾病的预防工作的一部分，并已被提议作为肾移植方案的一部分，但由于 APOL1 变异的临床影响存在不确定性，因此测试可能是可行的。还生成需要多种形式的证据（包括社区成员的观点）来支持负责任的方法，以提供有关 APOL1 在研究和临床护理中的状态的信息研究目标：确定非裔美国人社区对风险和污名的看法。将有关 APOL1 风险变异的信息返回给研究参与者并在临床护理和肾移植计划中测试 APOL1 风险变异的好处，并促进将这些观点纳入政策讨论中。为此，该提案的具体目标是：目标 1：对研究人员、超级明星、社区领袖以及患有或不患有肾脏疾病的非裔美国人进行关键信息采访，以确定他们对向研究参与者提供 APOL1 结果以及在临床护理和肾移植项目中使用 APOL1 检测的看法。：建立三个以社区为基础的审议小组，以确定社区偏好和优先事项，以负责任的方式向研究参与者提供 APOL1 结果并在临床护理和肾移植计划中利用 APOL1 测试目标 3：召开全国利益相关者会议来审查该项目的成功完成将为研究人员、羊群和政策制定者提供关于 APOL1 结果返回的社区指导。研究以及 APOL1 测试在临床护理中的应用 PHS 398/2590（修订版 09/04，重新发布 4/2006）。