Genetic Testing and Stone Disease

Genetic Testing and Stone Disease

Co-host: Kyle Wood, MD

Population analysis demonstrated that genetic conditions resulting in stone disease are magnitudes higher than those seen in clinical cohorts, suggesting underdiagnosis. Urologist play a unique role as we often times have many touch points with these patient given their presentation for stone disease. With the advancement of treatments, specifically in primary hyperoxaluria, it is essential that urologist play a more active role in the earlier diagnosis of patients. Genetic testing has become readily available at lower cost and much of the perceived barriers to genetic testing are addressed by current available programs.

Outline:
1. The contribution of genetics to kidney stone disease
2. Specific studies using genetic testing
3. Primary Hyperoxaluria as an example
4. Current Genetic Testing and Ease
5. The role of the Urologist

References:
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