Ten tips for ordering, interpreting, and communicating genetic test results in nephrology

Area of Science:

• Nephrology
• Medical Genetics
• Clinical Diagnostics

Background:

• Genetic testing is crucial in nephrology for diagnosis, prognosis, and treatment, but many clinicians lack confidence in genetic concepts and variant interpretation.
• This knowledge gap hinders the effective use of genetic testing to improve patient outcomes in kidney disease.

Purpose of the Study:

• To provide nephrologists with 10 practical, actionable tips for safely and confidently integrating genetic testing into routine clinical practice.
• To empower clinicians to leverage genetic testing for improved diagnosis, management, and patient outcomes in nephrology.

Main Methods:

• The review outlines a framework for genetic testing in nephrology, emphasizing early testing, precise phenotyping, and appropriate test selection (single-gene, panels, exome, genome).
• It details strategies for informed consent, reading genetic reports, interpreting variant classifications (diagnostic, suggestive, uninformative), and managing variants of uncertain significance.
• The importance of periodic reanalysis and multidisciplinary collaboration is also highlighted.

Main Results:

• The review presents 10 practical tips designed to demystify genetic testing for nephrologists.
• These tips cover the entire workflow from test ordering and interpretation to result disclosure and ongoing management.
• Each tip includes a 'nephrogenetics nugget' for practical application in patient care.

Conclusions:

• Implementing these 10 tips provides a robust framework for nephrologists to effectively utilize genetic testing in everyday practice.
• This integration facilitates better molecular diagnoses, personalized treatment strategies, and improved patient outcomes in kidney diseases.
• The review encourages ongoing learning, multidisciplinary collaboration, and data sharing to advance the field of nephrogenetics.