A multidisciplinary model for implementation of nephrogenetics in CKD outpatients: a clinical and data-driven...

Genetic forms of chronic kidney disease are increasingly being diagnosed in adult patients, particularly in those with early-onset disease, a positive family history, syndromic features, or histological findings suggesting a hereditary origin. However, the implementation of genomics in adult nephrology remains limited because structured multidisciplinary pathways are lacking.

We established a weekly multidisciplinary nephrogenetics clinic at the Nephrology and Dialysis Unit of Firenze 2, Italy, in collaboration with the Diagnostic Genetics Unit of the Careggi University Hospital. The model includes nephrologists, clinical geneticists, molecular geneticists, psychologists, and nursing staff. Genetic testing was guided by clinical presentation and included targeted gene panels as well as exome sequencing. Pre- and post-test counseling and psychological support were routinely provided.

Between March 2024 and May 2025, 154 adult patients were evaluated. The most common clinical indications were hereditary kidney stone disease, known or suspected ciliopathies, collagen-related disorders, and glomerular diseases. A molecular diagnosis was achieved in 88 patients (57.1%). Among those with chronic kidney disease of unknown etiology, 45.8% (11/24) received a genetic diagnosis. Genetic findings led to diagnostic reclassification in 31.8% (28/88) of cases and informed treatment decisions, family screening, and transplant planning.

A multidisciplinary nephrogenetics clinic is a feasible and effective model for adults with suspected hereditary kidney disease. This approach improves diagnostic accuracy, supports personalized care, and promotes the integration of genomic medicine into nephrology practice. Broader implementation of such models should be encouraged to address unmet clinical needs and enhance patient outcomes.