Kidney Week

Abstract: TH-PO528

Value of Genetic Testing in a Glomerular Disease Center

Session Information

• Glomerular Diseases: Omics, Biomarkers, and Tools
  October 24, 2024 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Glomerular Diseases

• 1401 Glomerular Diseases: Mechanisms, including Podocyte Biology

Authors

• Blasco Pelicano, Josep Miquel, Columbia University, New York, New York, United States

Josep Miquel Blasco Pelicano, MD, PhD

• Nestor, Jordan Gabriela, Columbia University, New York, New York, United States

Jordan Gabriela Nestor, MD, MS, FASN

• Vena, Natalie, Columbia University, New York, New York, United States

Natalie Vena, MS

• Bogyo, Kelsie, Columbia University, New York, New York, United States

Kelsie Bogyo, MS

• Sanna-Cherchi, Simone, Columbia University, New York, New York, United States

Simone Sanna-Cherchi, MD

• Kiryluk, Krzysztof, Columbia University, New York, New York, United States

Krzysztof Kiryluk, MD

• Navarro Torres, Mariela, Columbia University, New York, New York, United States

Mariela Navarro Torres, MD

• Wooden, Benjamin, Columbia University, New York, New York, United States

Benjamin Wooden, MD

• Bomback, Andrew S., Columbia University, New York, New York, United States

Andrew S. Bomback, MD, MPH

• Appel, Gerald B., Columbia University, New York, New York, United States

Gerald B. Appel, MD, FASN

• Radhakrishnan, Jai, Columbia University, New York, New York, United States

Jai Radhakrishnan, MD, MBBS, MS, FASN

• Canetta, Pietro A., Columbia University, New York, New York, United States

Pietro A. Canetta, MD, MS

Background

Integrating genomics into clinical practice is essential for offering high-quality personalized medicine at glomerular disease centers.

Methods

This observational, retrospective study evaluated the clinical usefulness of genetic studies at Columbia University’s Glomerular Kidney Disease Center. Over 40 months (7/2020–11/2023), 231 patients with glomerular phenotypes were referred for genetic evaluation. After a multidisciplinary visit by a genetic counselor and a specialized nephrologist, genetic tests were selected individually based on clinical suspicion.

Results

Of the 231 patients,142 had a biopsy-confirmed glomerular disease, while 89 had a suspected glomerular disease, who never were biopsied. The average age was 43.5 years±16.8, with 54% female and 37% self-reported as white. Main clinical suspicions were collagenopathies (47%), hereditary focal segmental glomerulosclerosis (25%) and complement dysregulation (8%).
The most common genetic tests ordered (71%) were large, multi-gene (100+), next generation sequencing panels. Genetic testing results were positive diagnostic (pathogenic or likely pathogenic variants) in 34% (n=79) and positive non-diagnostic (APOL1 risk alleles) in 9% (n=20) (Figure 1). Among diagnostic results, the most frequent genes were collagen-related (COL4A3-5) with 76%, followed by complement genes (CFH, CFI, MCP) and NPHS1 & 2 (both 4%).
Top benefits and clinical implications included prognostic information (47%), therapeutic guidance (42%), familial testing (42%), establishing a genetic diagnosis (34%) and sub-specialty referral (32%).

Conclusion

Multi-disciplinary care integrating genetic evaluation of a glomerular disease referral population provided important benefits for the patients and their families. It is recommended to integrate this approach more broadly, moving forward to a precision medicine in glomerular disease.

Funding

• Government Support – Non-U.S.