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Kidney Week

Abstract: PO2068

Utility of Genetic Testing in Kidney Transplant Evaluation

Session Information

Category: Transplantation

  • 1902 Transplantation: Clinical

Authors

  • Beretich, Lauren, Natera, Inc., San Carlos, California, United States
  • Singh, Neeraj, John C. McDonald Regional Transplant Center, Shreveport, Louisiana, United States
  • Palermini, Arianna, Arkansas College of Osteopathic Medicine, Fort Smith, Arkansas, United States
  • Qamar, Aleeza, John C. McDonald Regional Transplant Center, Shreveport, Louisiana, United States
  • Luksic, Daniel, Natera, Inc., San Carlos, California, United States
  • McCormick, Sarah, Natera, Inc., San Carlos, California, United States
  • Tabriziani, Hossein, Natera, Inc., San Carlos, California, United States
  • Billings, Paul Richard, Natera, Inc., San Carlos, California, United States
Background

Genetic testing is an emerging tool in pre-kidney transplant (KT) evaluations for individuals with end-stage renal disease (ESRD). A known genetic etiology can inform the risk of disease recurrence, guide transplant management, and enable evaluation of living related donors. Despite these benefits, there is a paucity of literature describing the use of diagnostic genetic testing as part of the pre-KT evaluation. Here we describe the initial experience incorporating a broad renal genetic testing panel for KT candidates in one Louisiana center.

Methods

A retrospective review was conducted on 31 patients that underwent a KT evaluation in April 2021 with RenasightTM, a NGS-based >380-gene kidney disease test. The patients were primarily female (20/31), African American (16/31), and <50 years of age (17/31). The primary clinical causes of CKD were hypertension (HTN) and/or diabetes (20/31).

Results

Positive findings were identified in 32.3% (10/31) of patients in the APOL1, CFI, COL4A4, and PKD2 genes. Additionally, 29.0% (9/31) of the patients were identified as heterozygous carriers of autosomal recessive conditions. Of the positive cases, 60% (6/10) were either homozygous or compound heterozygous for the G1 and G2 risk alleles in the APOL1 gene. One individual, heterozygous for a likely pathogenic variant (c.57+1G>C) in the CFI gene, associated with atypical hemolytic uremic syndrome, along with biopsy-proven thrombotic microangiopathy was tested for complement proteins in plasma. Due to the potential increased risk of recurrence, simultaneous liver-kidney transplant and Eculizumab was considered.

Conclusion

In this initial experience, kidney genetic testing was an informative tool resulting in a change in patient management. The genetic testing yield in this cohort is likely enriched as many of these patients had a positive family history of kidney disease, significant proteinuria, or ESRD attributed to HTN. Genetic testing in pre-KT patients has potential clinical impact on post-KT management and selection of living-related donors. Further research is needed to describe the utility of genetic testing for kidney transplant candidates.