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Abstract: PO1289

Utility of Genetic Testing in Informing Management of Patients with Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Ross, Daniel W., Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, New York, United States
  • Jhaveri, Kenar D., Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, New York, United States
  • Kartchner, Laurel, Natera, Inc., San Carlos, California, United States
  • Clark, Dinah, Natera, Inc., San Carlos, California, United States
  • Gaj, Kerry, Natera, Inc., San Carlos, California, United States
  • Malieckal, Deepa A., Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, New York, United States
Background

Early identification of monogenic causes of CKD through genetic testing can improve disease treatment, inform management and improve outcomes. Genetic testing can also be useful for families with a history of CKD to plan for the future, including appropriate identification of organ donors. Here we describe the use of genetic testing, with RenasightTM, an NGS-based >380 gene panel for kidney disease, to inform treatment for patients being treated for kidney abnormalities.

Methods

We performed a retrospective analysis of genetic test results using RenasightTM (NGS-based>380 broad kidney gene panel) at a large academic center over an 18-month period. After signed informed consent, broad genetic testing was performed on blood or saliva samples from 31 patients. Genetic testing results were then related to alterations in the management of treatment of these patients.

Results

In this cohort, 41.9% (13/31) were female with an average age 51 years. The most common demographic groups were African American and Caucasian (6 patients [19.4%], each). Nineteen patients (61.3%) underwent Renasight testing due to a CKD diagnosis, 5 (16.1%) due to nephritis/nephritic syndrome, 3 (9.7%) due to proteinuria/nephrotic syndrome, 1 (3.2%) due to thrombotic microangiopathy, 1 (3.2%) due to phosphorus metabolism disorder, and 1 (3.2%) due to hemochromatosis.

Positive results were identified in 12.9% (4/31) of the patients in the COL11A1, COL4A4, and APOL1 genes. Genetic testing results led to changes in management for 35.4% (11/31) of patients, confirmed diagnoses for 22.6% (7/31), provided additional diagnoses for 41.93% (13/31), and prompted family testing for 22.6% (7/31). For 4 patients with positive findings, test results impacted treatment management: 1 had transplant management impacted, 1 underwent biopsy to confirm Alport Syndrome, 1 had FSGS diagnosis confirmed and 1 underwent biopsy to confirm FSGS and initiated dialysis. Additionally, negative results led to alterations in management for 48.4% (15/31) of patients.

Conclusion

In this cohort at an academic practice, genetic testing informed nephrologists’ management of their patients in multiple capacities. Negative results can rule out genetic causes of disease, and carriers and variants of uncertain significance (VUS) can inform family planning decisions and enable testing in family members.