Abstract: PUB186
High Genetic Diagnostic Yield in a Nephrology Genetic Clinic: Clinical and Genetic Characteristics of Referred Patients
Session Information
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
- 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
- Aydin, Orhun, Saint Louis University, 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
Genetic kidney disease (GKD) is an important and often underrecognized cause of chronic kidney disease (CKD), yet integration of genetic testing into nephrology practice remains limited. Real-world data describing patient characteristics, diagnostic yield, and the clinical utility of genetic testing in routine care are needed. We report the clinical and genetic characteristics of patients referred for genetic evaluation at our academic center.
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.
Results
The mean age at evaluation was 48.4 years (SD 16.5), with 53% identifying as female. Most patients were of self-identified European American (63%) or African American/Afro-Caribbean (27%) ancestry. At referral, 45% had unclassified CKD with suspected genetic etiology. A monogenic kidney disease diagnosis was established in 36% of patients. Pathogenic or likely pathogenic variants associated with the clinical phenotype were detected in 33%, most commonly in PKD1 (9%) and PKD2 (7.7%), consistent with autosomal dominant polycystic kidney disease (ADPKD). Family history of kidney disease was present in 37%. Most patients were not on renal replacement therapy (94%) at the time of evaluation.
Conclusion
The establishment of a dedicated nephrology genetic clinic led to the identification of a genetic diagnosis cause in over one-third of patients, with the highest diagnostic yield among those with suspected hereditary kidney disease. These findings support the implementation of genetic testing in routine nephrology care.
Table 1. Baseline Characteristics