Clinical Genetic Testing in Nephrology: Core Curriculum 2024

Abstract

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.