Evaluation for genetic disease in kidney transplant candidates: A practice resource

Elizabeth G. Ames, Prince M. Anand, Mir Reza Bekheirnia, Mona D. Doshi, Mireille El Ters, Margaret E. Freese, Rasheed A. Gbadegesin, Lisa M. Guay-Woodford, Anuja Java, Daniel Ranch, Nancy M. Rodig, Xiangling Wang, Christie P. Thomas

Research output: Contribution to journalReview articlepeer-review

Abstract

The increasing availability of clinically approved genetic tests for kidney disease has spurred the growth in the use of these tests in kidney transplant practice. Neither the testing options nor the patient population where this should be deployed has been defined, and its value in kidney transplant evaluation has not been demonstrated. Transplant providers may not always be aware of the limitations of genetic testing and may need guidance on comprehending test results and providing counsel, as many centers do not have easy access to a renal genetic counselor or a clinical geneticist. In this practice resource, a working group of nephrologists, geneticists, and a genetic counselor provide a pragmatic, tailored approach to genetic testing, advocating for its use only where the genetic diagnosis or its exclusion can impact the choices available for transplantation or posttransplant management or the workup of living donor candidates at increased risk for heritable disease.

Original languageEnglish
Pages (from-to)237-249
Number of pages13
JournalAmerican Journal of Transplantation
Volume25
Issue number2
DOIs
StatePublished - Feb 2025

Keywords

  • Mendelian inheritance
  • genetic counseling
  • genetic testing
  • recurrent disease
  • risk alleles

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