Kidney Week

Abstract: FR-PO657

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

Session Information

• Genetic Kidney Diseases: Cohort Studies - Genetic Associations and Diagnoses
  October 25, 2024 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1202 Genetic Diseases of the Kidneys: Non-Cystic

Authors

• Baigam, Nahida, LSU Health New Orleans, New Orleans, Louisiana, United States

Nahida Baigam, MD, MBBS

• Do, Tammy Nguyen, LSU Health New Orleans, New Orleans, Louisiana, United States

Tammy Nguyen Do, MD

• Perez, Annalisa B., LSU Health New Orleans, New Orleans, Louisiana, United States

Annalisa B. Perez, MD

• Bajracharya, Siddhartha Darshan, LSU Health New Orleans, New Orleans, Louisiana, United States

Siddhartha Darshan Bajracharya, MD

• Mohandas, Rajesh, LSU Health New Orleans, New Orleans, Louisiana, United States

Rajesh Mohandas, MD, FASN, MPH

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.