Utility of Genetic Testing in Patients with CKD of Uncertain Etiology: Results from an Underserved, Predominantly African American, Urban Population

Background: Genetic testing is being increasingly used in the diagnosis of patients with Chronic Kidney Disease( CKD) of uncertain etiology. Most centers limit the use to young patients with unexplained CKD or those with a strong family history of kidney disease. The utility of genetic testing might vary depending on the genetic composition of the population studied. We report our experience with genetic testing in a large, urban, predominantly African American population, associated with an academic practice in New Orleans Methods: DNA from a cheek swab of 65 patients with CKD of uncertain etiology was evaluated for 385 gene panels (the RenasightTM test). Results: The mean age of the patient population was 55 +/- 13 years. Of those most were males 78 %, and African American 71 %. Overall, 34 % had a known pathogenic mutation while 66 % had negative tests. The mean age in the positive and negative test groups was 52.58 and 56.86 years, respectively. Many patients who did not have a pathogenic mutation had carrier status for APOLA1 or COL4. Conclusion: CKD-focused genetic panels have significantly enhanced clinical diagnoses. In our patient population, which was not restricted by age or a positive family history, 1/3 patients had a definitive diagnosis for their CKD because of genetic testing. These findings advocate for the broader implementation of genetic test panels in the clinical care of CKD patients with unknown etiology.