Implementation of clinical genetic testing into the routine diagnostic workup of patients with kidney disorders can improve care when employed with proper patient selection. Due to advances in technology, testing with curated gene panels associated with kidney diseases are commercially available, are relatively inexpensive, and have quick turnaround time. While this may reduce barrier to entry, their adoption into routine nephrology care may be hindered when practitioners do not have comfort and experience ordering or interpreting these tests. Identifying patients who may have a monogenic etiology of their kidney disease will increase the diagnostic yield of testing, avoid unnecessary use of resources, and reduce anxiety around unclear or secondary findings. Genetic testing can end one’s diagnostic odyssey and help identify other family members at risk. Additionally, obtaining a genetic result can aid diagnostic precision, enhance understanding of disease, and may allow for alterations in treatment plans and screening for extrarenal manifestations of disease as well as clarify prognosis and aid in family planning. In this Core Curriculum, using a case-based approach, we highlight these and other topics in clinical genetic testing to enhance utilization in the general nephrology patient population.

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肾脏病学临床基因检测：2024 年核心课程


在正确选择患者的情况下，将临床基因检测实施到肾脏疾病患者的常规诊断检查中可以改善护理。由于技术的进步，使用与肾脏疾病相关的精选基因面板进行检测是市售的，相对便宜，并且周转时间短。虽然这可能会降低进入门槛，但当从业者没有安排或解释这些测试的舒适度和经验时，它们可能会阻碍它们在常规肾脏病学护理中的采用。识别可能具有肾脏疾病单基因病因的患者将提高检测的诊断率，避免不必要的资源使用，并减少对不明确或继发性结果的焦虑。基因检测可以结束一个人的诊断之旅，并帮助识别其他处于危险中的家庭成员。此外，获得遗传结果有助于诊断精度，增强对疾病的理解，并可能允许改变治疗计划和筛查疾病的肾外表现，以及阐明预后并有助于计划生育。在本核心课程中，我们使用基于案例的方法，突出临床基因检测中的这些和其他主题，以提高一般肾病患者群体的利用率。