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Review
. 2025 Feb;25(2):237-249.
doi: 10.1016/j.ajt.2024.10.019. Epub 2024 Oct 31.

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

Elizabeth G Ames  1 , Prince M Anand  2 , Mir Reza Bekheirnia  3 , Mona D Doshi  4 , Mireille El Ters  5 , Margaret E Freese  6 , Rasheed A Gbadegesin  7 , Lisa M Guay-Woodford  8 , Anuja Java  9 , Daniel Ranch  10 , Nancy M Rodig  11 , Xiangling Wang  12 , Christie P Thomas  13
Affiliations
Review

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

Elizabeth G Ames et al. Am J Transplant. 2025 Feb.

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.

Keywords: Mendelian inheritance; genetic counseling; genetic testing; recurrent disease; risk alleles.

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Conflict of interest statement

Declaration of competing interests The authors of this manuscript have conflicts of interest to disclose as described by the American Journal of Transplantation. E.G.A. serves on the scientific advisory boards of TANGO2 Research Foundation; is a principal investigator (PI) for Ultragenyx Pharmaceutical and a coinvestigator for Moderna and Applied Therapeutics; and has served as a consultant for Asklepios Biopharmaceutical. P.M.A. serves on the Speakers’ Bureau for Callidtas Therapeutics and Sanofi Pharmaceutics. M.D.D. receives research funding from the National Institutes of Health (U01DK116097) as part of the APOL1 Long-term Kidney Transplantation Outcomes Network (APOLLO) Clinical Center 7. R.A.G. serves on the scientific advisory board for Vertex Pharmaceutical. L.M.G.-W. serves as a scientific advisor for Otsuka Pharmaceutical. A.J. serves on the Scientific Advisory Boards of Alexion, AstraZeneca Rare Disease, and Novartis pharmaceuticals. She is a PI for Novartis Pharmaceuticals and Apellis Pharmaceuticals and has served as a consultant for Dianthus Therapeutics and Aurinia Pharmaceuticals. N.M.R. serves on the Scientific Review Committee for Dicerna Pharmaceuticals. X.W. serves on the Scientific Advisory Board of Natera. C.P.T. is a site PI for Vertex Pharmaceuticals.

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