GENETICS IN CLINICAL NEPHROLOGY 2023 ASN (Videos )

GENETICS IN CLINICAL NEPHROLOGY This early program provides expertise in outpatient management of patients with Mendelian kidney disorders. This program reviews the historical development of genetic testing for patients with Mendelian kidney disorders, principles for genetic testing in individuals suspected of having a hereditary kidney disorder, and considerations of specific clinical settings, including early-onset disease for typical adult-onset disorders, late-onset disease for typical childhood-onset disorders, and genetic testing in the transplant clinic setting. Experts cover several important topics in the field, such as the value of genetic testing in individuals with CKD of unknown etiology, cystic kidney diseases, glomerulopathies, tubular transport, and nephrolithiasis disorders.

Given the complexity of genetic test result reporting, a detailed review of the interpretation of test results is discussed, including the interpretation of variants of unknown significance (VUS). The role of genetic testing in the nephrology transplant clinic for both donors and recipients, the importance of pre- and post-testing genetic counseling, and appropriate test result sharing with patients and their families are discussed. This program also includes interactive clinical cases, debates, and panel discussions.