Department of Medicine, VA Puget Sound Health Care System, Division of Nephrology, and Kidney Research Institute, University of Washington, Seattle, Washington, USA.
Department of Bioethics and Humanities, University of Washington, Seattle, Washington, USA.
Am J Nephrol. 2019;50(4):303-311. doi: 10.1159/000502675. Epub 2019 Sep 3.
Apolipoprotein A1 (APOL1) gene variants occurring in people of West African descent contribute to the greater burden of kidney disease among African Americans. These variants are associated with increased risk of nondiabetic nephropathy, more rapid progression of chronic kidney disease, and shorter survival of donor kidneys after transplantation. However, only a minority of people with APOL1-associated risk develops kidney disease and specific clinical measures to address APOL1-associated risk are lacking. Given these uncertainties, we sought to engage members of the African American public in discussions with other stakeholders about the appropriate use of APOL1 testing.
Formative interviews with community members, researchers, and clinicians in Seattle WA, Nashville TN, and Jackson MS, provided baseline information about views toward APOL1 testing and informed the design of 3 community-based deliberations among African Americans. A national meeting held in March 2018 included 13 community members, 7 scientific advisors and 26 additional researchers, clinicians, bioethicists, patient advocates, and representatives from professional organizations and federal funding agencies. Using small break-out and plenary discussion, the group agreed on recommendations based on current knowledge about APOL1-associated risk.
Meeting outcomes included recommendations to develop educational materials about APOL1 for community members and clinicians; to offer APOL1 research results to participants; and on the use of APOL1testing in kidney transplant programs. The group recommended against the routine offer of APOL1 testing in clinical care. Areas of disagreement included whether kidney transplant programs should require APOL1 testing of prospective living donors or bar individuals with APOL1 risk from donating kidneys and whether testing should be available on request in routine clinical care.
We recommend continued discussion among stakeholders and concerted efforts to ensure active and informed participation of members of the affected community to guide research on APOL1 and kidney disease.
发生在西非裔人群中的载脂蛋白 A1（APOL1）基因突变导致非裔美国人的肾脏疾病负担加重。这些变体与非糖尿病性肾病的风险增加、慢性肾脏病的快速进展以及移植后供体肾脏的存活时间缩短有关。然而，只有少数具有 APOL1 相关风险的人会发展为肾脏疾病，并且缺乏针对 APOL1 相关风险的具体临床措施。鉴于这些不确定性，我们试图让非裔美国人社区成员与其他利益相关者就 APOL1 检测的适当用途进行讨论。
在西雅图华盛顿州、纳什维尔田纳西州和杰克逊密西西比州对社区成员、研究人员和临床医生进行了形成性访谈，提供了关于 APOL1 检测看法的基线信息，并为 3 次非裔美国人社区为基础的审议提供了信息。2018 年 3 月举行的一次全国会议包括 13 名社区成员、7 名科学顾问和 26 名额外的研究人员、临床医生、生物伦理学家、患者倡导者以及来自专业组织和联邦资助机构的代表。通过小型分组讨论和全体会议讨论，该小组根据当前对 APOL1 相关风险的了解就建议达成一致。
会议结果包括为社区成员和临床医生编写有关 APOL1 的教育材料的建议；向参与者提供 APOL1 研究结果；以及在肾脏移植计划中使用 APOL1 检测的建议。该小组建议反对在临床护理中常规提供 APOL1 检测。存在分歧的领域包括肾脏移植计划是否应要求潜在的活体供者进行 APOL1 检测，或是否应禁止具有 APOL1 风险的个人捐赠肾脏，以及是否应在常规临床护理中根据要求提供检测。
我们建议利益相关者继续讨论，并共同努力，确保受影响社区成员的积极和知情参与，以指导 APOL1 和肾脏疾病的研究。
