Cases from the Community: Investigators Provide Their Perspectives on the Practice Implications of Emerging Clinical Research — A Special Video SupplementImportance of genetic testing
3:54 minutes.
TRANSCRIPTION:
DR LOVE: One final question from a doc again who came down to the booth, which is, he talks about patients who’ve had BRCA testing in the past, 5 years ago or even 10 years ago, with strong family histories, and the question of other genes to look for that might be important to know about and newer methods of screening. Do you ever rescreen your patients for BRCA-negative? DR O’SHAUGHNESSY: All the time, Neil. Our genetics program has had to hire many, many more genetic counselors. I have this conversation — when I’m in clinic, I have this conversation about probably 6 to 8 times a day. DR LOVE: Wow! DR O’SHAUGHNESSY: Yes. Yes. Yes. We’re doing it routinely in the strong family history or somebody who presented young — in other words, that they would qualify today for genetic testing. DR LOVE: And what kind of lesions do you see that make you do — I assume this is really more related to the family, not therapeutic, correct? DR O’SHAUGHNESSY: Or the patient herself, if her ovaries are intact or she still has breast tissue. What about MRIs? DR LOVE: Right. Right. DR O’SHAUGHNESSY: The NCCN has come out with some helpful early guidance on what do you do if it’s a PALB2 or an ATM or one of those. Their bottom line is, if you have more than a 20% lifetime risk of breast cancer with one of these other germline mutations that MRIs are being recommended. They say it a little tongue in cheek, but they’re doing the best they can until they have the data. But they’re using that 20% lifetime risk of developing breast cancer. So I think there’s real action to be had from it. DR LOVE: So what specific panel do you yourself utilize? Now, of course, there’s a recent paper, Neil, that there’s not terrific concordance between what people do with these variants. Some people just say, “We don’t know.” Some say, “They’re wild type. We think they’re not deleterious.” And others call them deleterious. I think it was in JCO. This was in JCO, Neil. It just came out. And that was like, “Oh! That’s kind of scary,” because there’s some huge implications for those types of things. So we have to be careful, but if somebody really — and what I do, do, Neil, if somebody, for example, doesn’t have a particular family history, and let’s say she was diagnosed at 45. So technically, she qualifies. I say, “You know what? You’ve already had BRCA1/2 testing. It’s clear. Let’s wait a few years, because let’s not go to the well at this moment on this, because we need more time. We need more time to sort out all these variants.” So I do put it off if I can, Neil. |