Abstract: SA-PO0615
Geographic Patterns in Genetic Kidney Diseases: Exploring Location-Based Diagnostic Yield in a Nephrology Genetics Clinic
Session Information
- Monogenic Kidney Diseases: Tubular and Other
November 08, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases
Authors
- DeLonais-Parker, Ava, Saint Louis University School of Medicine, St. Louis, Missouri, United States
- Aydin, Orhun, Saint Louis University, St. Louis, Missouri, United States
- Rabideau, Kate, Saint Louis University School of Medicine, St. Louis, Missouri, United States
- Truong, Dzuy, Saint Louis University School of Medicine, St. Louis, Missouri, United States
- Befeler, Jaime, Saint Louis University School of Medicine, St. Louis, Missouri, United States
- Unes, Meghan Marie, Saint Louis University School of Medicine, St. Louis, Missouri, United States
- Lentine, Krista L., SSM Health Saint Louis University Hospital, St. Louis, Missouri, United States
- Caliskan, Yasar, SSM Health Saint Louis University Hospital, St. Louis, Missouri, United States
Background
While genetic testing is increasingly used in nephrology, little is known about the geographic distribution of referrals or whether diagnostic yield varies by location. We examined referral patterns to our academic center and assessed whether positive diagnosis rates differed by patient location.
Methods
We conducted a retrospective analysis of 78 adult patients referred for genetic testing as part of routine nephrology care. Demographic, clinical, and genetic data were collected through chart review. Genetic testing approaches included targeted gene panels. All patients received clinical genetic counselling. Patient data is geocoded and heatmaps are created based on the GI-statistic to quantify spatial patterns of genetic testing.
Results
The mean age at evaluation was 48.4±16.7 years, with 53% identifying as female. Most patients self-identified as European American (63%) or African American/Afro-Caribbean (27%). A referral heat map demonstrated geographic clustering of patients receiving genetic testing for hypertension-related kidney disease, especially near downtown Saint Louis (Figure 1). A genetic diagnosis was confirmed in 28 of 78 patients (35.9%). Among positives, the most frequently implicated genes were PKD1 (9.0%), PKD2 (7.7%), and APOL1 two renal risk variants (3.8%). The genetic basis for these patients is shown in Figure 2.
Conclusion
Spatial analysis revealed a significant association between geographic location and likelihood of both referral and positive genetic diagnosis. Evaluation of spatial patterns in genetic testing criteria reveals significant clustering of cases where testing was driven by kidney disease attributed to hypertension.