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Genetic Counseling in Kidney Disease: A Perspective
Quinn Stein1, Maggie Westemeyer1, Tarek Darwish2
1Natera Inc, Austin, TX.
Kidney Medicine
|June 19, 2023
Summary
Genetic counselors are essential partners for nephrologists as genetic testing becomes more common in kidney disease care. They empower patients with knowledge for informed decisions regarding genetic tests and hereditary kidney conditions.
Area of Science:
- Nephrology
- Genetics
- Medical Genetics
Background:
- Genetic testing is increasingly integrated into nephrology practice.
- There is a growing need for partnership with genetic experts in nephrology.
Purpose of the Study:
- To highlight the crucial role of genetic counselors in nephrology.
- To explain the value genetic counselors bring to patients undergoing genetic testing for kidney diseases.
Main Methods:
- The abstract discusses the training and expertise of genetic counselors specializing in nephrology.
- It emphasizes the collaborative relationship between genetic counselors and nephrologists.
Main Results:
- Genetic counselors facilitate informed decision-making for patients regarding genetic testing.
- They manage complex aspects like variants of uncertain significance and extrarenal manifestations.
- They provide essential education and support for patients and families, including cascade testing and family planning.
Conclusions:
- Genetic counselors are ideally suited to partner with nephrologists, maximizing the utility of genetic testing in kidney disease.
- Genetic counseling is a dynamic, patient-centered process that facilitates value-based decision-making.
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