Dr. Choudry and Dr. Durant on questions raised by pathogenic research in genitourinary cancers

In this video, Mouneeb Choudry, MD, and Adri Durant, MD, discuss questions that arise from the Journal of Urology study “Germline Pathogenic Variants Identified in Patients With Genitourinary Malignancies Undergoing Universal Testing: A Multisite Single-Institution Prospective Study.” Choudry and Durant are urology residents at Mayo Clinic in Phoenix, Arizona.

Transcription:

What questions arise from this research?

Choudry: I think 1 of the biggest questions that comes from this is that we are identifying these PGVs in the prostate, bladder, and renal cancer populations. But having a better understanding of which PGVs are really putting patients at an increased risk vs others, I think would definitely be something that needs more investigation. And then I think more work needs to be put into, how do we broaden the guidelines? A lot of times, I think what we struggle with in the medical field is, we have a lot of different tools and resources that we can use to help patients in terms of their overall care and guiding their treatment. But much of that comes back to, do insurances cover that, or do patients have the ability to afford that? Many times, these insurance companies will reference guidelines. I think more work needs to be put into better guideline statements on who needs this sort of genetic testing. That's not to say that we need to make it broad right away and say, everyone who has any concern for prostate, renal, or bladder cancer should have that. But I think there needs to be a little more work and investigation there to pinpoint who needs this and who doesn't. And then I think the other part of this, which we kind of touched on a little bit, and I think more questions need to go into is, like Dr. Durant talked about with the cascade testing, and family members uptaking this once they learn that the family member has these concerning PGVs, how to get more of these family members information they need to want to go and pursue genetic testing. And then once they have that information, what do they really do? We know that it's important, but I think some more work needs to be done to better have an understanding of who really needs it, and what do we do about it?

Durant: I agree. This is, I think, an impressive study from the amount of patients we were able to enroll from the Mayo Clinic sites, but still larger population studies are needed to validate these findings as far as what is the pathogenic variant rate within universal populations, and universal screening. And then as Dr. Choudry talked about, what is the infrastructure we need to help guide patients with these pathogenic variant results? What does that mean to them? And this, I'm sure, will continue to evolve as precision medicine continues to evolve in GU cancers as well.