Abstract: PUB283
Genetic Testing in Nephrology and Kidney Transplant Clinics in an Academic Center with a Predominant Minority Population
Session Information
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic
Authors
- Madera Marin, Luis N., University of New Mexico School of Medicine, Albuquerque, New Mexico, United States
- Garcia, Pablo, University of New Mexico School of Medicine, Albuquerque, New Mexico, United States
- Argyropoulos, Christos, University of New Mexico School of Medicine, Albuquerque, New Mexico, United States
- Singh, Namita, University of New Mexico School of Medicine, Albuquerque, New Mexico, United States
Background
Chronic kidney disease (CKD) affects about 14% of the adults in the US. Accurate diagnosis of any clinical condition is key to appropriate and successful management. A recent multi-center study showed that genetic testing with a CKD-focused 385 gene panel called Renasight® substantially refined clinical diagnoses and had widespread implications for treatment strategies. We aimed to review the diagnostic yield of Renasight® in our patient population as well as the impact of test results on management decisions.
Methods
We conducted a retrospective chart review on all adult patients who underwent Renasight® testing through nephrology and/or kidney transplant clinics. Hospital EMR and Natera® organ health portal (clinical genetic testing company providing Renasight® testing) were utilized as sources.
Results
A total of 28 individuals underwent Renasight® testing between 7/1/2020 and 4/15/2024. Of the entire cohort: mean age was 43 years, 57% males, and 57% identified their ethnicity as Hispanic or Latino. The majority of the patients (75%) were referred from transplant clinics. Mean serum creatinine at initial visit for non-ESKD patients (n=17) was 2.34 mg/dL (S.D. 2.07). Family history of kidney disease was found to be positive in about 36 percent. FSGS was noted to be the most common reason for test order. Renasight® test reported positive significant gene abnormality in 4 (14%), with an additional 17 people (60%) with a variable of undetermined significance (VUS) or carrier mutation. Negative result aided in decision making for all 3 potential living donors to proceed. Out of the 4 positive results, 2 positive APOL1 mutations confirmed the suspected FSGS diagnosis. Both these patients self-identified as African Americans. One patient previously diagnosed as CKD, unspecified was found to have likely pathogenic CFI gene, associated with aHUS and C3G, which is postulated to significantly impact treatment strategies in future.
Conclusion
In our primarily Hispanic/ Latino population, we noted a diagnostic yield of 14% for significant gene abnormalities. Positive results impacted management in 3 out of 4 cases, and negative report supported decision to proceed with living donor evaluation in all tested for this indication.