Tips for Testing Adults With Suspected Genetic Kidney Disease

Abstract

Genetic kidney disease is common but often unrecognized. It accounts for most cystic kidney diseases and tubulopathies, many forms of CAKUT, and some glomerulopathies. Genetic kidney disease is typically suspected where the disease usually has a genetic basis, or there is another affected family member, a young age at onset, or extra- renal involvement, but there are also many exceptions to these guidelines. Genetic testing requires the patient’s written informed consent. Where a patient declines testing it may be worthwhile reassessing later. Genetic testing not only indicates the diagnosis, but also the inheritance pattern, likely at-risk family members, disease in other organs, clinical course and, possibly, effective treatments. Sometimes genetic testing does not identify a pathogenic variant even where other evidence is strong. A Variant of Uncertain Significance (VUS) may be reported, but should not be used for clinical decision-making. It may be reclassified after more information becomes available without necessarily retesting the patient. Patients should be provided with a copy of their genetic test report, the results explained and at-risk family members offered ‘cascade’ testing. A referral to a clinical geneticist or genetic counsellor helps identify affected family members and provide advice to assist with reproductive decisions.