Integrating a culturally competent APOL1 genetic testing program into living donor evaluation

项目概要/摘要 活体供肾移植是治疗终末期肾病的最佳方法 （ESKD）。然而，LD本身未来ESKD的风险更高。非裔美国人（AA）LD有一个 甚至比献血后白色LD患ESKD的风险更大，为3.3倍。因为有证据表明 载脂蛋白L1（APOL 1）风险变异导致这种更大的风险，移植肾学家越来越多地 使用APOL 1测试来评估非洲血统的LD候选人。然而，肾病学家并不总是 由于缺乏知识和技能， 关于APOL 1如果没有适当的咨询，APOL 1测试将放大LD候选人的决策 关于捐赠的冲突，危及他们的知情同意。考虑到他们捐献后患终末期肾病的风险增加， 以及AA对基因检测的广泛文化关注，保护AA LD候选人的道德至关重要。 通过APOL 1测试，以文化上胜任的方式提高捐赠的知情决定。 没有移植计划将APOL 1测试以文化上胜任的方式整合到LD评估中。 临床“聊天机器人”，即使用人工智能为患者提供遗传信息的移动的应用程序， 减轻对临床医生时间的限制，可以改善知情的治疗决策，减少决策冲突。 由一家医学遗传学公司创建的聊天机器人“Gia”可以适应任何条件。但没有 APOL 1上的聊天机器人目前可用。没有为肾病学家提供的咨询培训计划， 以文化上合适的方式就APOL 1和捐赠向AA LD提供咨询。由于缺乏基因 咨询师们，提高肾脏病学家的遗传知识对于将基因检测纳入实践至关重要。 本研究的目的是文化适应和评估的有效性，一个APOL 1测试 在两个为大量AA LD人群服务的移植中心（芝加哥，IL和华盛顿， DC）。APOL 1测试计划将评估文化能力测试，聊天机器人， 对AA LD候选人关于捐赠的决策冲突，决策准备， 捐赠意愿和对知情同意的满意度。具体目标是： 1.将Gia和移植咨询调整为APOL 1，用于常规临床实践 2.评估这种干预对决策冲突、准备和意愿的有效性， 捐赠在一个前后设计 3.通过使用RE-AIM框架，评价该干预措施在临床实践中的实施情况， 纵向评价肾病科医师咨询实践和LD对知情同意的满意度。 本研究的影响将是创建AA LD的APOL 1测试模型，然后可以 通过实施科学方法在国家一级实施。APOL 1将作为一个模型， 在移植和其他做法中纳入文化上合格的基因检测，以改善患者的知情同意。

PROJECT SUMMARY/ABSTRACT Living donor (LD) kidney transplantation is the optimal treatment for patients with end-stage kidney disease (ESKD). However, LDs take on a higher risk of future ESKD themselves. African American (AA) LDs have an even greater, 3.3-fold, risk of ESKD than white LDs post-donation. Because evidence suggests that Apolipoprotein L1 (APOL1) risk variants contribute to this greater risk, transplant nephrologists are increasingly using APOL1 testing to evaluate LD candidates of African ancestry. However, nephrologists do not consistently perform genetic counseling with LD candidates about APOL1 due to a lack of knowledge and skill in counseling about APOL1. Without proper counseling, APOL1 testing will magnify LD candidates’ decisional conflict about donating, jeopardizing their informed consent. Given their elevated risk of ESRD post-donation, and AAs’ widely-held cultural concerns about genetic testing, it is ethically critical to protect AA LD candidates’ safety through APOL1 testing in a culturally competent manner to improve informed decisions about donating. No transplant programs have integrated APOL1 testing into LD evaluation in a culturally competent manner. Clinical “chatbots,” mobile apps that use artificial intelligence to provide genetic information to patients and relieve constraints on clinicians’ time, can improve informed treatment decisions and reduce decisional conflict. The chatbot “Gia,” created by a medical genetics company, can be adapted to any condition. However, no chatbot on APOL1 is currently available. No counseling training programs are available for nephrologists to counsel AA LDs about APOL1 and donation in a culturally competent manner. Given the shortage of genetic counselors, increasing nephrologists’ genetic literacy is critical to integrating genetic testing into practice. The objective of this study is to culturally adapt and evaluate the effectiveness of an APOL1 testing program for AA LDs at two transplant centers serving large AA LD populations (Chicago, IL, and Washington, DC). The APOL1 testing program will evaluate the effect of the culturally competent testing, chatbot, and counseling on AA LD candidates’ decisional conflict about donating, preparedness for decision-making, willingness to donate, and satisfaction with informed consent. The specific aims are to: 1. Adapt Gia and transplant counseling to APOL1 for use in routine clinical practice 2. Evaluate the effectiveness of this intervention on decisional conflict, preparedness, and willingness to donate in a pre-post design 3. Evaluate the implementation of this intervention into clinical practice by using the RE-AIM framework to longitudinally evaluate nephrologist counseling practices and LDs’ satisfaction with informed consent. The impact of this study will be the creation of a model for APOL1 testing of AA LDs, which can then be implemented nationally via implementation science approaches. APOL1 will serve as a model for integrating culturally competent genetic testing into transplant and other practices to improve patient informed consent.