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Updated: Jun 11, 2025
07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
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Clinical Genetic Testing in Nephrology: Core Curriculum 2024.
Abraham W Aron1, Neera K Dahl2
1Division of Nephrology and Hypertension, Department of Medicine, Georgetown University School of Medicine, Washington, DC.
Summary
Clinical genetic testing for kidney disorders improves patient care with proper selection. This approach enhances diagnosis, reduces costs, and aids family planning by identifying monogenic kidney diseases.
Area of Science:
- Nephrology
- Clinical Genetics
- Genomics
Background:
- Clinical genetic testing offers advancements for diagnosing kidney disorders.
- Curated gene panels for kidney diseases are now accessible, affordable, and rapid.
- Barriers to adoption include practitioner comfort and experience with genetic testing.
Purpose of the Study:
- To enhance the utilization of clinical genetic testing in nephrology.
- To guide practitioners in selecting appropriate patients for genetic testing.
- To highlight the benefits of genetic testing in diagnosing kidney diseases.
Main Methods:
- A case-based approach is used to illustrate key concepts.
- Discussion focuses on patient selection for genetic testing.
- The curriculum aims to build practitioner confidence and experience.
Main Results:
- Proper patient selection increases diagnostic yield and resource efficiency.
- Genetic testing can resolve diagnostic odysseys and identify at-risk family members.
- Results aid in precise diagnosis, disease understanding, and treatment adjustments.
Conclusions:
- Clinical genetic testing, when appropriately applied, significantly improves kidney disorder diagnosis and management.
- Genetic insights facilitate personalized treatment, prognosis clarification, and family planning.
- Enhanced practitioner education is crucial for broader adoption in nephrology.
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