Genetic testing is all the rage nowadays. Companies sell kits that will use your genes to both tell you where you ancestors come from as well as tell you what diseases hide in your genes. I was recently asked about the role of genetic testing in urology and thought that it was a great question.
First, a warning, I’m not going to mention any specific genetic test as I don’t want to provide advertising to any company so if someone has a specific question, just ask me at your next visit.
Let’s start with screening for urological diseases. It turns out that in the kidney cancer world, there are a few genetic diseases that put patients at high risk of kidney cancer including von Hippel-Lindau disease, hereditary leiomyomatosis, hereditary papillary renal carcinoma and Hirt-Hogg-Dube syndrome but unfortunately for the most common type of kidney cancer, sporadic clear cell renal cell carcinoma, there is no commercially available genetic test. In fact, the most common way kidney cancer is diagnosed nowadays is as an incidental finding on abdominal imaging!
Prostate cancer is a bit different but not much. About 95% of all prostate cancer is sporadic meaning that it does not have a genetic component but there is a small group, about 5% of all patients, who harbor a genetic predisposition to prostate cancer. Mutations in the BRCA2 gene, the same gene that can cause breast cancer in women, has been linked to prostate cancer so men with two or more first degree relatives with prostate cancer should be screened.
On the other hand, using genetic testing after the diagnosis of prostate cancer is an exciting field that has much potential. The trick with treating prostate cancer is that most prostate cancer does not require any active treatment. It can be safely monitored because it tends to grow very slowly. On the other hand, not all prostate cancer grows slowly and so there are numerous genetic tests available that can help guide physicians and patients in selecting appropriate patients for monitoring. If you have prostate cancer and have questions about using genetic tests for monitoring, please contact me.
Another common question is the use of genetic screening for kidney stones and unfortunately the answer is a bit complicated. It is a true statement that kidney stones run in families; if a parent had stones, a patient is much more likely to get stones themselves. That does not mean though that your genetics is to blame. Why? Because most families eat the same types of food and dietary considerations are much more likely to blame. There are certain stones though, cysteine stones for example, that are genetic but those are incredibly uncommon.
Like most physicians I believe that as our understanding of genetics increases, my ability to treat patients will improve but unfortunately genetic testing remains at its infancy and in most cases is not ready for clinical use.
If you have questions, please call my office for an appointment and I’ll be glad to explain everything in person!