Ames Elizabeth G, Anand Prince M, Bekheirnia Mir Reza, Doshi Mona D, El Ters Mireille, Freese Margaret E, Gbadegesin Rasheed A, Guay-Woodford Lisa M, Java Anuja, Ranch Daniel, Rodig Nancy M, Wang Xiangling, Thomas Christie P
Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
Department of Internal Medicine, Medical University of South Carolina, Lancaster, South Carolina, USA.
Am J Transplant. 2025 Feb;25(2):237-249. doi: 10.1016/j.ajt.2024.10.019. Epub 2024 Oct 31.
The increasing availability of clinically approved genetic tests for kidney disease has spurred the growth in the use of these tests in kidney transplant practice. Neither the testing options nor the patient population where this should be deployed has been defined, and its value in kidney transplant evaluation has not been demonstrated. Transplant providers may not always be aware of the limitations of genetic testing and may need guidance on comprehending test results and providing counsel, as many centers do not have easy access to a renal genetic counselor or a clinical geneticist. In this practice resource, a working group of nephrologists, geneticists, and a genetic counselor provide a pragmatic, tailored approach to genetic testing, advocating for its use only where the genetic diagnosis or its exclusion can impact the choices available for transplantation or posttransplant management or the workup of living donor candidates at increased risk for heritable disease.
临床上已获批准的肾脏疾病基因检测方法日益增多，这推动了这些检测在肾移植实践中的应用增长。目前，既未明确检测选项，也未确定应采用这些检测的患者群体，其在肾移植评估中的价值也尚未得到证实。移植医疗人员可能并不总是了解基因检测的局限性，在理解检测结果和提供咨询方面可能需要指导，因为许多中心难以获得肾脏遗传咨询师或临床遗传学家的帮助。在本实践资源中，一个由肾病学家、遗传学家和遗传咨询师组成的工作组提供了一种实用的、量身定制的基因检测方法，主张仅在基因诊断或排除基因诊断会影响移植或移植后管理的可用选择，或影响对遗传性疾病风险增加的活体供体候选人的检查时，才使用基因检测。
