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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Beyond Kidney Genes: Broad Clinical Implications of Genetic Testing for Nephrology Patients
Naama Elefant1, Maddalena Marasà2, Hila Milo Rasouly1
1Center for Precision Medicine and Genomics, Columbia University Irving Medical Center, New York, NY.
Abstract:
Genetic testing in nephrology is evolving beyond diagnosis of kidney diseases to significantly influence broader patient care. This review evaluates the expanding role of genetic information in nephrology practice. We compare various testing technologies-including targeted gene panels, exome/genome sequencing, and single nucleotide polymorphism (SNP) arrays-highlighting their clinical utility and limitations in various medical specialties. We discuss existing tests where genetic results could impact the care of patients with chronic kidney disease (CKD): management of CKD-associated comorbidities, clinical implications of American Society of Medical Genetics and Genomics actionable genes, pharmacogenomic tests to optimize medication selection and dosing, and Human Leukocyte Antigen testing. As novel genetic tools emerge, such as polygenic risk scores and clonal hematopoiesis of indeterminate potential, we discuss how they may soon be reported in clinical settings. Given the complexity of interpreting diverse genetic data, we advocate for the integration of genetics professionals into nephrology care teams. This review concludes that genetic testing beyond kidney-specific genes holds immense promise for improving the care of patients with kidney diseases, but further research is necessary to establish guidelines for its integration into nephrology practice. Semin Nephrol 36:x-xx © 20XX Elsevier Inc. All rights reserved.
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