10 tips to integrate genetic testing into nephrology practice

Abstract

A substantial subset of chronic kidney disease has an underlying monogenic cause, both in children and adults. Modern sequencing technologies provide the means for broad genetic testing. Approaches to therapy and patient care become increasingly aetiology-based. Thus, unravelling the genetic cause is getting clinically more and more important. Today, genetic testing represents a valuable diagnostic tool that offers clinical value in various aspects, starting from validation, refinement, or correction of the diagnosis (so-called reverse phenotyping). This often leads to optimized evaluation of risks and prognosis, improved clinical management and potentially targeted treatment options. Interpreting genetic results and test reports is often regarded as challenging. The following ten tips aim to provide clinicians with helpful background information on genetic tests, address frequent uncertainties and unanswered questions, and aid in the use of genetic testing in routine diagnostics.