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（由适用提供）：末期肾脏疾病（ESRD）或肾脏衰竭影响美国超过500,000人，并不成比例地影响种族和少数民族。与白人相比，非裔美国人发展ESRD的可能性高2-4倍，占ESRD人口的32％，而仅占美国人口的13％。载脂蛋白L1（APOL1）基因G1和G2的两个独立变体与在非洲裔美国人中发展非糖尿病ESRD的风险更大，这是相关的。此外，继承两个风险变异的人（G1/G1，G2/G2或G1/G2）也更有可能在年轻的年龄发展ESRD，并且从具有两个风险变体的死者肾脏接受供体肾脏的人会经历较短的肾脏移植生存。尚不知道每个具有高风险基因型的人是否会发展ESRD。 APOL1相关风险的确切机制或与环境暴露的关系；或那些患有合并条件的人是否更有可能发展ESRD。为了解决这些不确定性，将需要对APOL1状态进行评估的研究。 APOL1测试也可以提供给非裔美国人患者，以指导慢性肾脏疾病（CKD）的管理，也可以作为旨在减少肾脏疾病的预防工作的一部分，并已被提议作为肾脏移植方案的一部分。然而，由于对Apol1变体的临床意义的不确定性，测试也可能引起混乱，焦虑或污名。需要多种形式的证据，包括社区成员的观点，以支持负责任的方法来提供有关研究和临床护理中APOL1状态的信息。研究目标：确定有关返回有关APOL1风险变体信息的风险和收益的非裔美国人社区观点，以研究参与者以及测试临床护理和肾脏移植计划中的APOL1风险变体，并促进这些观点在政策讨论中。为此，该提案的具体目的是：目标1：对患有或没有肾脏疾病的研究人员，临床医生，社区领袖和非裔美国人进行关键的线人访谈，以确定他们对在临床护理和肾脏移植计划中提供APOL1结果和使用APOL1测试的看法。目标2：进行三个基于社区的审议小组，以确定社区的偏好和优先级，以提供为研究参与者提供APOL1结果的负责任方法，并在临床护理和肾脏移植计划中使用APOL1测试。目标3：召集一场全国利益相关者会议，以审查当前与APOL1相关的肾脏疾病的科学，审查审议团体的发现，并为决策者制定指导。该项目的成功完成将为研究人员，临床医生和政策制定者提供基于社区的指导，从而导致研究和在临床护理中使用APOL1测试。 PHS 398/2590（Rev. 09/04，重新发行4/2006）