Introduction: Recent studies have shown that up to 10% of adult stone formers may have an underlying monogenic cause. Indeed, >30 genes have been identified, yet additional clinically significant genetic variants exist but remain unidentified or understudied. With the increasing availability of genetic testing, we sought to describe genetic and clinical characteristic for patients undergoing genetic testing at a large stone center. Methods: A retrospective review was performed for all patients evaluated in our multi-disciplinary stone clinic and referred to our nephrolithiasis genetics clinic between 2018 when the genetics clinic was initiated through 2022. Patient demographic, clinical, stone, and genetic data were included. Specifically, we included stone history, composition, as well as the presence or absence of a genetic variant and its associated pathogenic significance if known. Results: 50 patients were referred to the nephrolithiasis genetics clinic over the 4-year period, of which 34 (68%) underwent genetic testing and were included in the analysis. Genetic testing identified a variant in 19 (58%) patients of which 6 (32%) had a variant with a known pathogenic association. Among patients with a variant identified, the majority had a family history of stones (68%), calcium-based stones (68%), and had been managed medically (79%) or surgically (79%) prior to testing. A large proportion (37%) had their first stone episode prior to age 18. There were no significant differences in demographic or clinical parameters between patients with pathogenic variants vs. variants of unknown significance (VUS) (Table). Solute-carrier (SLC) gene abnormalities were the most common variants identified among both groups (Figure). Conclusions: Most patients referred to genetics were found to have a genetic variant. However, the majority of these variants were of unknown significance. Further evaluation into associations of these VUS with clinical indicators/outcomes is warranted. SOURCE OF Funding: None
