What criteria should be used when considering genetic testing in patients with stones?

In this video, Nicolette G. Payne, MD, discusses incorporating genetic testing into routine clinical care for patients with kidney stones. She is a co-author of 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:

How do you envision integrating genetic testing into routine clinical care for patients with kidney stones? What are the potential challenges and opportunities in implementing such a strategy?

That was another thing we were interested in our study is that there are actually no clear guidelines on when to refer patients with nephrolithiasis to genetic testing. We don't have any clear factors on when our guidelines tell us to send someone to genetics. And so really, it's at the opinion of the referring provider or the urologist that the patient is seeing. In our nephrolithiasis clinic, we use some general criteria to refer to genetics, and that [includes] multiple stone events, stone event before the age of 18, bilateral kidney stones, and kidney stones that required multiple surgeries. Those are some of the criteria. And then, if the patient has undergone a 24-hour urine study, and based on that, we have a high suspicion for a genetic abnormality like a distal renal tubular acidosis or cystinuria, then we'll refer. I think our study showed that based on the high percentages of variants that we found, that the criteria that we're using is a relatively good measure to use to refer to genetics, and so I think, ultimately, it is up to the provider.

But how do we integrate this into clinical practice? I think any patient that you have who has multiple stone events, stone events before the age of 18, requiring multiple surgeries, or stones in both kidneys, I think those are all good factors to use to at least bring it up to the patient and say, "You could benefit from genetic testing. We may be able to find something that we can use to change management." In our study, unfortunately, we didn't find that there were any changes in clinical management made based on the genetic findings, but there have been prior research studies that list out all the different genetic abnormalities that you can have that cause kidney stones and make recommendations of different treatment options, whether that be medications or dietary changes, things like that specific to the disease process. We didn't find changes in our study, but there has been prior research to show that when you identify a variant for a disease process that you can make meaningful clinical changes that are specific to that disease process.

This transcription was edited for clarity.