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Abstract: SA-PO534

The Clinical Impact of Genetic Testing in Outpatient General and Transplant Nephrology: A Tertiary Centre Experience

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic


  • Sankar, Lakshna, Geisinger Health, Danville, Pennsylvania, United States
  • Sanghi, Pooja, Geisinger Health, Danville, Pennsylvania, United States
  • Singh, Gurmukteshwar, Geisinger Health, Danville, Pennsylvania, United States
  • Anand, Prince Mohan, Medical University of South Carolina, Charleston, South Carolina, United States
  • Kalra, Kartik, Geisinger Health, Danville, Pennsylvania, United States
  • Chang, Alex R., Geisinger Health, Danville, Pennsylvania, United States

Monogenic diseases account for 10-15% of kidney diseases. The impact of clinical genetic testing in real-world nephrology is not well-characterized.


A retrospective study was conducted at Geisinger from June 2020 to April 2022. Patients with suspicion for inherited kidney disease underwent genetic testing. We classified positive finding as having a pathogenic (P) or likely pathogenic (LP) variant in a gene consistent with the clinical phenotype or presence of two apolipoprotein L1 (APOL1) risk alleles. The number of variants of unknown significance (VUS) that matched the clinical phenotype were quantified.


Positive genetic diagnoses were obtained in 42 patients (P/LP variants n=36; 2 APOL1 risk alleles n=6) encompassing 19 genes. Among those without a genetic diagnosis, 17 patients had a VUS that was consistent with the renal phenotype. The mean number of VUS was 4.8 ± 2.6. 92% of the patients (136/147) had at least 1 VUS. Diagnostic yield of genetic testing in CKD of unknown cause was 28% (Figure 1). Among potential kidney donors, 1/9 (11%) had a positive variant (CFI gene). 28% of the patients (15/53) with positive genetic diagnoses underwent kidney transplant workup. Family testing was done in 6 families confirming 2 genetic diagnoses in 2 relatives who were referred to genetic counseling.


Nephrologist-driven use of genetic testing can provide molecular diagnoses influencing management in CKD/ESKD patients. Family testing provides insights that help identify appropriate living donors, refer those with a positive diagnosis to genetics clinic and re-classify VUS as disease causing variants. Our study represents real - world application and utilization of renal genetic testing.