Journal article
Genetic testing in the evaluation of recipient candidates and living kidney donors
Current opinion in nephrology and hypertension, Vol.33(1), pp.4-12
01/2024
DOI: 10.1097/MNH.0000000000000934
PMID: 37823847
Abstract
Purpose of review The aim of this study is to provide an overview of the role of genetic testing in the evaluation of kidney transplant candidates and living donors who may be at risk for heritable kidney disease. We focus our discussion on monogenic diseases, excluding renal diseases that have complex polygenic influences. Adoption of new technologies such as next-generation sequencing (NGS) with comprehensive gene panels has greatly enabled access to genetic testing recently; yet transplant professionals rarely receive adequate training in clinical genetics. In addition to a broad discussion of genetic testing, we hope to illustrate the thought processes and resources used in clinical genetic evaluation of recipient candidates and donors. Recent findings Targeted renal genetic panels, whole exome and genome sequencing have greatly expanded our ability to test for pathogenic variants. Testing methods, analytic tools and the subsequent interpretation by the testing laboratory and treating physician impacts patient management and clinicians may lack the resources to practice in this new era of genomic medicine. Summary The expansion of genomics into transplant medicine can provide improved diagnosis in transplant candidates and potentially disease prediction in living donors. Transplant professionals need to be familiar with emerging trends, promises and limitations of NGS-based testing.
Details
- Title: Subtitle
- Genetic testing in the evaluation of recipient candidates and living kidney donors
- Creators
- Brian K. Lee - Seton Medical CenterChristie P. Thomas - Iowa City VA Medical Center
- Resource Type
- Journal article
- Publication Details
- Current opinion in nephrology and hypertension, Vol.33(1), pp.4-12
- DOI
- 10.1097/MNH.0000000000000934
- PMID
- 37823847
- ISSN
- 1062-4821
- eISSN
- 1473-6543
- Language
- English
- Electronic publication date
- 10/13/2023
- Date published
- 01/2024
- Academic Unit
- Stead Family Department of Pediatrics; Obstetrics and Gynecology; Nephrology; Internal Medicine
- Record Identifier
- 9984480348202771
Metrics
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