Genetic testing in autosomal dominant polycystic kidney disease: why it matters in 2025

ADPKD is the most common monogenic cause of kidney failure globally and a significant cause of morbidity and mortality. It is now recognized that it may result from both major and minor genes with associated differences in disease penetrance, symptom burden and clinical outcomes. Genetic testing is now readily available to discriminate between different genotypes and is being increasingly utilized for diagnostic and prognostic indications. In this short review, we summarize the reasons why testing should become part of standard care for ADPKD patients where available and highlight some current limitations and challenges to testing. Defining the genetic landscape in ADPKD for all ethnic groups will be key to the future development and deployment of individualized patient-centered management in this condition.