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.

中文翻译：

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肾移植候选者的遗传病评估：实践资源


临床批准的肾脏疾病基因检测的日益普及刺激了这些检测在肾移植实践中的使用增长。尚未定义应部署的检测选项和患者群体，其在肾移植评估中的价值尚未得到证明。移植提供者可能并不总是意识到基因检测的局限性，并且可能需要理解检测结果和提供咨询的指导，因为许多中心无法轻松获得肾脏遗传咨询师或临床遗传学家的帮助。在这个实践资源中，由肾脏病学家、遗传学家和遗传咨询师组成的工作组提供了一种务实的、量身定制的基因检测方法，倡导仅在基因诊断或其排除可能影响可用于移植或移植后管理的选择或遗传性疾病风险增加的活体供体候选人的病情检查时才使用基因检测。