Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies

Area of Science:

• Genetics
• Nephrology
• Genomic Medicine

Background:

• Genetic factors contribute significantly to kidney diseases, affecting 10-15% of adult and 70% of pediatric end-stage renal disease cases.
• Next-generation sequencing (NGS) advances enable comprehensive genomic assessment, positioning genetic testing as a primary diagnostic tool in clinical settings.

Purpose of the Study:

• To demystify genetic test selection for nephrologists treating patients with kidney disease.
• To highlight interdisciplinary collaboration opportunities between nephrology and genetics professionals.
• To support the integration of precision medicine approaches in nephrology.

Main Methods:

• Detailed review of various clinical genetic testing modalities, including their technical strengths and weaknesses.
• Discussion of established indications for genetic testing in nephrology.
• Development and illustration of a generalized workflow for genetic test selection in kidney disease patients.

Main Results:

• Provides a clear overview of available genetic testing options and their clinical utility.
• Offers a practical framework to guide nephrologists in choosing the most suitable genetic tests.
• Identifies key research areas and methodologies for advancing genetic testing in nephrology.

Conclusions:

• Genetic testing offers significant diagnostic and management benefits for kidney disease patients.
• A structured approach and interdisciplinary collaboration are essential for effective genetic test utilization in nephrology.
• Further research is needed to optimize genetic testing strategies and their impact on precision medicine for kidney diseases.