Genetic testing and personalized treatment for kidney stone formers

Kidney stone disease (KSD) is heritable and genetic testing is becoming increasingly relevant to its management. However, it is unclear who should be offered genetic testing and what these investigations should entail. This review gives an overview of the existing evidence and future directions.

In highly selected cohorts, genetic testing for monogenic disease can yield high diagnostic rates. These diagnoses can facilitate genetic counselling, familial testing, and targeted medical therapies.Our understanding of the role of rare intermediate effect size and common low effect size genetic variants is evolving. The clinical utility of polygenic risk scores and genetic sequencing in unselected cohorts remains uncertain.

Genetic testing for monogenic KSD is advised in individuals with a strong family history and with recurrent stones. There is a need for large-scale studies, including in urology settings, to determine optimal criteria for patient selection in real world settings. Further research is required to define the role of genetic testing, including polygenic risk scores, in risk prediction, personalised management, and disease recurrence.