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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
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A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology
Abraham W Aron1, Neera K Dahl, Whitney Besse
1Section of Nephrology, Department of Internal Medicine, Yale School of Medicine, New Haven, Connecticut.
Kidney360
|October 17, 2022
Summary
Genetic testing is now affordable for diagnosing kidney diseases. This review guides clinicians on using genetic panels for unexplained kidney disorders, improving patient care and prognosis.
Area of Science:
- Nephrology
- Medical Genetics
- Genomic Medicine
Background:
- Genetic testing is increasingly utilized for diagnosing kidney diseases of unknown origin.
- Decreased costs and improved accessibility make genetic testing a viable option for patients and clinicians.
- There's a growing need for genetic testing to confirm diagnoses, guide treatment, and provide prognostic information.
Purpose of the Study:
- To provide a detailed discussion of clinical genetic testing cases in nephrology.
- To highlight the identification of pathogenic variants versus genetic risk alleles.
- To address the diagnostic limitations and utility of genetic testing in kidney disorders.
Main Methods:
- Case reviews of patients undergoing genetic testing with a kidney gene panel.
- Discussion of pathogenic variants in monogenic kidney diseases.
- Analysis of diagnostic limitations and utility of genetic tests.
Main Results:
- Successful identification of pathogenic variants for monogenic kidney diseases.
- Demonstration of the contrast between pathogenic variants and genetic risk alleles.
- Exploration of diagnostic challenges and benefits in real-world clinical scenarios.
Conclusions:
- Clinical genetic testing is a valuable tool for unexplained kidney disorders.
- Provider education is crucial for effective selection, interpretation, and application of genetic tests.
- Genetic testing has the potential to transform the diagnosis and treatment of kidney-related conditions.
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