The Power of Genomic Testing

[00:00:00] Adam Walker: This podcast is brought to you by Agendia, a leading provider of innovative precision oncology solutions for early stage breast cancer. Using advanced genomic tests like MamaPrint and Blueprint, they enable clinicians to quickly identify the most effective treatment plan at the point of diagnosis, minimizing risks of over and under treatment.

From Susan G Komen, this is Real Pink, a podcast exploring real stories, struggles, and triumphs related to breast cancer. We’re taking the conversation from the doctor’s office to your living room.

Tumor profiling or genomic testing can give us information about the genes in a person’s cancer cells and can help guide doctors to the best possible treatment plan by predicting the risk of recurrence or when breast cancer returns after initial treatment. If a low risk of recurrence is shown, people with breast cancer and their doctors can choose to pursue a less aggressive treatment plan with confidence.

Here today to empower us with information about the power of genomics and to give further insight into how it can possibly affect treatment decisions is medical oncologist specializing in breast cancer and cancer genomics and Chief Medical Officer at Agendia, Dr. William Audeh. Dr. Audeh, welcome to the show.

[00:01:15] Dr. William Audeh: Thank you, Adam. It’s a pleasure to be here with you.

[00:01:17] Adam Walker: I’m happy to talk with you. I think this is such an important thing and something that I think probably many of us don’t know a lot about, which is why we’re having this conversation. So talk to me about genomics. Let’s start with an overview of what that is to help our listeners and me understand what we’re going to be talking about today.

[00:01:36] Dr. William Audeh: Yeah, great. What we talk about when we refer to genomics is looking at the genome, genes within a cancer. This is really important because we now understand that the real pathology of cancer is down at the level of the genes. That’s where the defects are. And so using the current technology to be able to look at the genes in a cancer, really helps us, make the best clinical decisions.

So we’re looking at which genes are turned on, which genes are turned off, because they’re the drivers that really direct how a cancer is going to behave. And importantly, which treatments they may be most sensitive to.

[00:02:17] Adam Walker: Okay. Okay. So it helps you kind of understand the behavior of the cancer and, essentially how to treat it then.

And so, can you talk about why genomic testing is helpful in particular with breast cancer?

[00:02:29] Dr. William Audeh: Yes. We’ve always relied on understanding breast cancer by looking at clinical factors like how big the tumor is, whether it went into the lymph nodes or not. As well as the way it looks under the microscope, the size of the cells and things like that.

But that did not give us any real details about what’s going on down at the genetic and genomic level. So, one thing we’ve learned is that when we look at the genomics of a breast cancer, we can actually predict better than we could have before based upon clinical and pathology features, exactly how that cancer is going to behave.

And as you mentioned in the introduction, we can predict with greater accuracy, the likelihood that it has spread and also understand better what’s driving its growth so that we can target our treatment more specifically to patients what that cancer is sensitive to.

[00:03:25] Adam Walker: Okay. So, then what can genomic testing tell us that might potentially change treatment for the better and why is that important?

[00:03:33] Dr. William Audeh: Yeah. We all love to talk about precision medicine and personalized medicine these days, and I think genomics has really empowered us to do that because each cancer is unique, each cancer is different. And the way we detect those differences is really down at the genomic level. We couldn’t really do that using standard pathology and clinical features.

And so one of the major breakthroughs that we’ve achieved with using genomics and newly diagnosed breast cancer is identifying women who can safely avoid chemotherapy. Because while they may look under the microscope and on clinical features, like someone who would need chemotherapy, that I as a medical oncologist would immediately think I need to treat this patient aggressively.

We’ve learned that at the genomic level, some of these cancers are really not very aggressive and can be adequately treated with anti estrogen pills, for example, and avoid chemotherapy. That was the main first use of genomics. What’s most exciting is actually we’ve gone way beyond that now. We can actually not only identify women who can avoid being over treated with

chemotherapy, but we can also better identify those women where we might need to escalate treatment more than we had initially anticipated because we’re finding now down at the genomic level that there’s something a bit more aggressive about this cancer that the microscope wasn’t telling us and when we avoid over treatment of course, we still cure the same number of women but with less toxicity but when we escalate treatment in selected women where the genomics is directing us to do that, we believe we’re going to cure more women.

And that of course is the ultimate outcome, to cure as many women as we possibly can with as little toxicity, as is needed to get there.

[00:05:33] Adam Walker: Yeah, I don’t think I would have thought of it like that. I never would have imagined by knowing the genes of it, you can avoid over treatment or under treatment.

That’s amazing. So that’s good to know, we certainly don’t want either one for people. So, what have doctors traditionally used to inform their treatment decisions and how does genomic testing fit into that? And inform the treatment plan for patients?

[00:05:59] Dr. William Audeh: For decades, we’ve relied on clinical features such as how big the tumor is, whether the cancer had moved into the lymph nodes under the arm, things like that, as well as looking at the cancer under the microscope.

Does it have estrogen receptors on it or other clues that might tell us how to treat the cancer and how it might behave? What genomics has told us, however, is that while those factors are still extremely important and part of the standard of care, they’re not enough. We now really see genomic information as another pillar of critical information that has to be applied to make the best decisions for women with newly diagnosed breast cancer.

I’ll give you a couple of examples where applying genomic information has not only allowed us to avoid chemotherapy in a large number of women who would have previously gotten it, but we’re now better able to identify which women might benefit from the newest and most promising treatments. For example, immunotherapy. Immunotherapy has moved into many cancers and has increased the cure rates of many cancers that previously at very poor prognosis. In breast cancer, we’re just starting to move immunotherapy in, but we are using genomic profiling to better identify which women with breast cancer might really benefit from this new and exciting treatment.

It also helps us now to decide which we’re going to have to use chemotherapy, which chemotherapy drug may be the better choice. We also have new genomic information that guides us in that direction as well.

[00:07:43] Adam Walker: I love that. I love that. I love the more targeted, the more specific therapies that we can offer, obviously, the better and I assume the more that we know about the cancer, the more targeted we can offer those therapies.

So are we seeing shifts in how certain women are being treated for breast cancer now versus in the past as we gain access to these types of technological advances?

[00:08:04] Dr. William Audeh: Oh, absolutely. I think the application of genomic information has dramatically changed our approach to breast cancer, not only the way we’re treating women now, but the way we’re conducting our clinical trials to continue to improve outcomes.

So, I think one of the major, benefits, of genomic information that has changed our approach is, not only finding women who can avoid chemotherapy, but for the women with hormone positive breast cancer, where genomics is most commonly used. We’re actually using genomics to help guide how to manage the anti estrogen treatment as well.

We can actually find women whose cancer looks the same under the microscope, but genomically, we’re learning that it’s a very slow growing and not very dangerous cancer. Some of those women might even be able to get by with less than the standard five years of anti estrogen treatment when we find them genomically.

On the other end of that spectrum, we also know that some women can still have a recurrence many years after diagnosis, as long as five or ten years later and we would love to be able to prevent those late recurrences. One way we do that is to convince women to keep going with their anti estrogen therapy beyond five years, but we didn’t really know until recently which women really needed that extra five years. And now, genomics is providing us with that answer as well. We can identify that one group that we really think would be best to stay on the pills and the other ones can stop at five years. Another shift is deciding whether to give treatment before surgery or waiting until after surgery.

For the most part, when we first had genomic information, it was primarily used after surgery, but now most of the genetic, the genomic testing that we’re using

these days is being obtained prior to surgery so that we can use that information to make the best decisions for all of the treatment planning.

Some women are best treated with treatment before surgery and some should go directly to surgery; and genomics is helping us make that decision as well.

[00:10:26] Adam Walker: It really sounds like it gives you a lot more criteria by which to make decisions and make recommendations to patients. It gives you so much more information.

So we’ve talked about that, what we do with the information that we’ve learned from genomic testing, but how is the testing done? How do doctors even get the information in the first place?

[00:10:45] Dr. William Audeh: Yeah, it’s actually very simple, because all we need is a small sample of the cancer itself.

And, as I mentioned, we’re doing a lot of genomic testing prior to surgery. So the cancer sample we have in that case, is the so called core biopsy, or the biopsy that was done with a needle that took out a sample of a lump in the breast, and under the microscope, the pathologist told us it’s cancer.

There are enough cancer cells in that sample for us to extract the genomic material to run the test that I’m talking about. So, all that a doctor has to do, once a diagnosis has been made, is request that the pathologist send a sample to a genomic testing laboratory such as Agendia for example, and the turnaround for that kind of test is usually just a matter of days that information can be brought back to the doctor and their patient within a short period of time; rapidly enough to make a decision for surgery as you’ve been decided.

[00:11:56] Adam Walker: Wow, that’s fantastic. I love that. Okay and can anyone with breast cancer receive genomic testing or is a specific stage or specific type of breast cancer?

[00:12:05] Dr. William Audeh: The majority of genomic testing that I’ve been talking about is in women who are newly diagnosed , at an early stage of breast cancer. Fortunately in the united states, you, the majority of women who are diagnosed with breast cancer are diagnosed at a curable stage.

Stage 1, 2, or 3. So, those are the women who are typically tested with genomic testing, because that’s where we have these major critical decisions to make; right at the outset. Because that’s our one chance to make the right decisions. to

cure that woman with breast cancer. So any woman with breast cancer can genomic testing.

It is most helpful in terms of the number of questions that are answered in women with hormone positive breast cancer, but we’ve also tested other women with HER2 positive breast cancer or triple negative breast cancer. And the sky’s the limit really with this kind of technology, because as we ask more questions in the setting of research and observing large numbers of women who have this genomic information, we can also learn things about why some women do better than others.

We, of course, notice that there are some racial disparities in the outcomes of breast cancer, and we’ve actually generated a great deal of genomic information that’s helping us understand why some women don’t do as well as others. That may in part be due to some genomic differences in their cancers.

So this is a very active area of research, even though it’s now considered part of the standard of care. There’s always more that we can do to improve outcomes.

[00:13:52] Adam Walker: itIsounds like you’re already doing a lot to improve outcomes and you’ll do even more. That’s fantastic. Now, if our listeners want to find out more, where can they go to find out more information about genomic testing?

[00:14:03] Dr. William Audeh: Certainly, Susan G. Komen website has a great deal of information. Other, websites such as LearnLookLocate, they have great information. We, of course, at Agendia. com, have very extensive information about our genomic tests. I’m a breast medical oncologist as you said at the beginning, I practiced for nearly 30 years in Los Angeles before joining Agendia.

And I think that we’ve reached the point where every woman who is diagnosed with breast cancer should know about genomics and should avail themselves of the information that’s really all over the internet. But, some of these sites that I just mentioned can provide really valuable.

[00:14:50] Adam Walker: That’s fantastic.

It sounds to me like super valuable testing, really valuable information. What you shared with us today is really valuable as well. Dr. Audeh, I really appreciate your time. Thanks for joining us on the show today.

[00:15:01] Dr. William Audeh: Thank you, Adam. It’s been a pleasure talking to you.

[00:15:03] Adam Walker: And thank you to Agendia for supporting this Real Pink podcast.

For more information about genomic testing in breast cancer, visit Agendia.com or Komen.org.

Thanks for listening to Real Pink, a weekly podcast by Susan G Komen. For more episodes, visit RealPink.Komen.org. For more on breast cancer, visit Komen.org. Make sure to check out @SusanGKomen on social media. I’m your host, Adam. You can find me on Twitter @AJWalker, or on my blog, adamjwalker.com.