Counseling patients with nephrolithiasis regarding genetic testing

In this video, Nicolette G. Payne, MD, discusses the recent Urology paper, “The Use of Genetic Testing in Nephrolithiasis Evaluation: A Retrospective Review from a Multidisciplinary Kidney Stone Clinic.” Payne is a urology resident at Mayo Clinic in Phoenix, Arizona.

Transcription:

Given the high percentage of variants of unknown significance identified in your study, what are the potential implications for patient care and counseling? How do you address patient concerns and uncertainties regarding these findings?

That's kind of the million-dollar question here. With our findings, what do we do with these? How do we counsel patients? And this is a tough question, because when a patient undergoes genetic testing, they're hoping for answers. They want to know if they have some disease and what we can do about it. And they come back and they have this variant of unknown significance, and it's kind of in the name, right? It's a variant. It's some difference from the population, but we do not know the clinical significance of it yet, and so the short answer is that we can't really make any changes to management, and we can't really change our counseling for those. That's tough to explain to patients after they underwent genetic testing, and they want an answer, and the answer is, "Interesting. We'll keep this in mind. We'll let you know if the research changes, but we can't make any clinical changes." And so I think what's really important for this is that you counsel patients before they undergo testing. Testing can be really expensive. Our test that we use is GeneDx. It looks at 41 different genes, and the test is actually relatively reasonable in comparison to other genetic tests on the market. It's around $200 out of pocket, and insurance may or may not cover it. But other genetic testing, through my research, I found can go as high as $3000 and again, insurance may or may not cover that. So I think it's important to be very transparent with patients and say, "We're going to do this genetic testing. We may find a genetic abnormality that we can counsel you on, but more likely we're going to find a variant of unknown significance or nothing at all. And if we find this variant of unknown significance, we can't make any changes to management based on that, because we don't have enough information yet." And I think if you counsel patients before they take the test, before they spend the money, that will really help in the counseling afterwards; you can say, "Remember how we talked about this? We knew this was a possibility, and this is what we found." I think it will help the conversation afterwards, and it will make things a lot easier to talk about if you've already told them that before they go in.

This transcription was edited for clarity.