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Kidney Week

Abstract: SA-PO530

Incorporating a Renal Genetics Clinic Into Clinical Practice: The Cleveland Clinic 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

Authors

  • Tan, Xin Yee, Cleveland Clinic, Cleveland, Ohio, United States
  • Borden, Chloe, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio, United States
  • Wang, Xiangling, Cleveland Clinic Genomic Medicine Institute, Cleveland, Ohio, United States
Background

The perceived need for timely diagnoses of genetic kidney diseases to allow multifaceted disease-specific patient care led to the establishment of our Renal Genetics Clinic(RGC) in 2018 which has since been rapidly growing.

Methods

A retrospective review was conducted to evaluate the diagnostic yield of available genetic testing modalities and it’s diagnostic and therapeutic implications among the patients who were referred to our RGC from January 2019 to March 2022.

Results

309 patients from 299 pedigrees including 118 males and 191 females aged 35.1±20.3 years old were seen in our RGC during this period,292 of whom were recommended for genetic testing and 252 had results available.Presentations were variable comprising mainly of glomerular diseases(33%),cystic kidney diseases(25.2%),electrolyte disorders(24.9%),congenital anomalies of kidneys and urinary tract(6.5%) and nephrolithiasis/ nephrocalcinosis(3.2%).A tiered testing algorithm was utilized which encompassed single gene panel(SGP), multigene panel(MGP),chromosomal microarray(CMA) and whole exome sequencing(WES).Among patients with results available,44.8%(113) had a positive result, 25.4%(64)had variant(s) of undetermined significance(VUS),8.3%(21) were identified as heterozygous carriers,and 21.4%(54) tested negative. The diagnostic yield of different testing modalities is illustrated in Figure 1. The majority of positive results in our patients were achieved by MGP(71.7%),followed by SGP(18.6%),WES(8.9%) and CMA(0.9%).The positive results brought about a new diagnosis or a change in diagnosis in 67.3%(76) of patients and confirmed a priori diagnoses in 32.7%(37).Consequently,this has resulted in a change in management including change in medications in 27.4%(31) of patients.

Conclusion

As genetic testing becomes increasingly accessible,we have demonstrated compelling benefits of incorporating a specialized RGC into nephrology practice with quantifiable diagnostic and therapeutic impacts.