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Options With Genetic Testing in Ovarian Cancer

Insights From: Angeles Alvarez Secord, MD, Duke University Medical Center; Michelle Berke
Published: Thursday, Dec 28, 2017



Transcript: 

Angeles Alvarez Secord, MD: One of the areas that I think is so important for physicians to know for patients with ovarian cancer is the need for testing. And I said ovarian cancer, but this is broad, right? Ovarian, tubal, and peritoneal cancer we lump together.

Michelle Berke: OK.

Angeles Alvarez Secord, MD: So, in your situation, you probably remember we talked about genetic testing very early on in the course.

Michelle Berke: Yes, I think we did my genetic testing probably a week after I met you.

Angeles Alvarez Secord, MD: Right.

Michelle Berke: Right before my surgery.

Angeles Alvarez Secord, MD: That’s how we knew you were BRCA1-positive. And there are so many different reasons to get the testing. At that point in time, there wasn’t a PARP inhibitor that had been approved for treatment in ovarian cancer for maintenance therapy, and that was 2014 when you were diagnosed. Olaparib was approved that year for a treatment indication.

So, just going back to talk a little more about genetic testing, there are so many women who don’t get tested, and it’s so important that physicians really need to know about the need for testing all women with an epithelial ovarian, tubal, or peritoneal cancer and the different platforms that are available. In your situation, you’re at Duke. We’re so lucky we have genetic counselors who are right down the door, literally right down the hall from me, right? They can do your counseling with you and talk to you about the different tests that you can get. And they probably counseled you about just doing the BRCA1 or BRCA2 mutation test, or this bigger panel of testing.

Michelle Berke: Yes, it was the BRCA1.

Angeles Alvarez Secord, MD: But that was your test that was positive.

Michelle Berke: Yes, that was my positive test.

Angeles Alvarez Secord, MD: Do you remember what kind of test you had? Was it one of the larger panel tests?

Michelle Berke: I think it was one of the larger panels. I got a huge booklet so…

Angeles Alvarez Secord, MD: Was it overwhelming for you to go through that process?

Michelle Berke: Not really. The woman that explained everything to me, she was very good at explaining doctor-speak I guess you could say. So, I had no problem.

Angeles Alvarez Secord, MD: One of the things that people talk about is if you just test for BRCA1 or BRCA2, you’re going to miss these other tumors. But if you do these bigger panel tests, you may just get a lot of variance of uncertain significance. You don’t know what they mean.

Michelle Berke: Oh, yes, OK.

Angeles Alvarez Secord, MD: Which may cause a lot of anxiety. So, there are pros and cons to each approach. I really think that having the most information is the best.

Michelle Berke: Beneficial for your survival, yes. I’m glad I found out.

Angeles Alvarez Secord, MD: But having the larger panel tests gives you more information about these different genes that you were tested on and there are a whole bunch of different panels. I don’t think one panel is better than another, but I would just say it’s really important for physicians to have that conversation with their patient. They can do point-of-care testing. They can do it from the office if they don’t have access to a genetic counselor, just because I worry about people missing that opportunity to get tested and find out. You talked about how you get information about your prognosis, but you also get information that can indicate that you could get one of these drugs, the PARP inhibitors, and you get information that can help other family members. Because if you test positive, then you can talk to your family about getting tested. And I know in your situation, you have 2 daughters and they both got tested and they’re negative.

Michelle Berke: They’re both negative, yes.

Angeles Alvarez Secord, MD: Which is great news. One issue that I get asked from medical oncologists is if someone has had genetic testing, it’s negative, now they have recurrent ovarian cancer, and they can possibly get one of these PARP inhibitors for maintenance treatment, what test do you get and when?

Michelle Berke: A lot of questions.

Angeles Alvarez Secord, MD: We didn’t really have to talk about this because you already knew in your situation.

Michelle Berke: Yes.

Angeles Alvarez Secord, MD: But I have some patients who don’t have the germline mutation and there are actually 2 tests that they can order that’s available. We talked about them in the context of clinical trials because the NOVA study used the Myriad test for homologous recombination defects. There’s also a companion diagnostic test for Myriad to evaluate just for BRCA mutations in the germline mutation, or now even the somatic. And then there’s the FoundationFocus test as well for germline and somatic BRCA mutations. So, if they have a patient who doesn’t have the germline mutation, there’s still these other testing platforms they could use to identify if their patient may be a candidate. But it’s important though. Patients need to ask about this, right?

Michelle Berke: They do, yes.

Angeles Alvarez Secord, MD: And physicians need to be aware about these different platforms for testing.

Transcript Edited for Clarity 
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Transcript: 

Angeles Alvarez Secord, MD: One of the areas that I think is so important for physicians to know for patients with ovarian cancer is the need for testing. And I said ovarian cancer, but this is broad, right? Ovarian, tubal, and peritoneal cancer we lump together.

Michelle Berke: OK.

Angeles Alvarez Secord, MD: So, in your situation, you probably remember we talked about genetic testing very early on in the course.

Michelle Berke: Yes, I think we did my genetic testing probably a week after I met you.

Angeles Alvarez Secord, MD: Right.

Michelle Berke: Right before my surgery.

Angeles Alvarez Secord, MD: That’s how we knew you were BRCA1-positive. And there are so many different reasons to get the testing. At that point in time, there wasn’t a PARP inhibitor that had been approved for treatment in ovarian cancer for maintenance therapy, and that was 2014 when you were diagnosed. Olaparib was approved that year for a treatment indication.

So, just going back to talk a little more about genetic testing, there are so many women who don’t get tested, and it’s so important that physicians really need to know about the need for testing all women with an epithelial ovarian, tubal, or peritoneal cancer and the different platforms that are available. In your situation, you’re at Duke. We’re so lucky we have genetic counselors who are right down the door, literally right down the hall from me, right? They can do your counseling with you and talk to you about the different tests that you can get. And they probably counseled you about just doing the BRCA1 or BRCA2 mutation test, or this bigger panel of testing.

Michelle Berke: Yes, it was the BRCA1.

Angeles Alvarez Secord, MD: But that was your test that was positive.

Michelle Berke: Yes, that was my positive test.

Angeles Alvarez Secord, MD: Do you remember what kind of test you had? Was it one of the larger panel tests?

Michelle Berke: I think it was one of the larger panels. I got a huge booklet so…

Angeles Alvarez Secord, MD: Was it overwhelming for you to go through that process?

Michelle Berke: Not really. The woman that explained everything to me, she was very good at explaining doctor-speak I guess you could say. So, I had no problem.

Angeles Alvarez Secord, MD: One of the things that people talk about is if you just test for BRCA1 or BRCA2, you’re going to miss these other tumors. But if you do these bigger panel tests, you may just get a lot of variance of uncertain significance. You don’t know what they mean.

Michelle Berke: Oh, yes, OK.

Angeles Alvarez Secord, MD: Which may cause a lot of anxiety. So, there are pros and cons to each approach. I really think that having the most information is the best.

Michelle Berke: Beneficial for your survival, yes. I’m glad I found out.

Angeles Alvarez Secord, MD: But having the larger panel tests gives you more information about these different genes that you were tested on and there are a whole bunch of different panels. I don’t think one panel is better than another, but I would just say it’s really important for physicians to have that conversation with their patient. They can do point-of-care testing. They can do it from the office if they don’t have access to a genetic counselor, just because I worry about people missing that opportunity to get tested and find out. You talked about how you get information about your prognosis, but you also get information that can indicate that you could get one of these drugs, the PARP inhibitors, and you get information that can help other family members. Because if you test positive, then you can talk to your family about getting tested. And I know in your situation, you have 2 daughters and they both got tested and they’re negative.

Michelle Berke: They’re both negative, yes.

Angeles Alvarez Secord, MD: Which is great news. One issue that I get asked from medical oncologists is if someone has had genetic testing, it’s negative, now they have recurrent ovarian cancer, and they can possibly get one of these PARP inhibitors for maintenance treatment, what test do you get and when?

Michelle Berke: A lot of questions.

Angeles Alvarez Secord, MD: We didn’t really have to talk about this because you already knew in your situation.

Michelle Berke: Yes.

Angeles Alvarez Secord, MD: But I have some patients who don’t have the germline mutation and there are actually 2 tests that they can order that’s available. We talked about them in the context of clinical trials because the NOVA study used the Myriad test for homologous recombination defects. There’s also a companion diagnostic test for Myriad to evaluate just for BRCA mutations in the germline mutation, or now even the somatic. And then there’s the FoundationFocus test as well for germline and somatic BRCA mutations. So, if they have a patient who doesn’t have the germline mutation, there’s still these other testing platforms they could use to identify if their patient may be a candidate. But it’s important though. Patients need to ask about this, right?

Michelle Berke: They do, yes.

Angeles Alvarez Secord, MD: And physicians need to be aware about these different platforms for testing.

Transcript Edited for Clarity 
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