Shanna M 00:11
Hello, Welcome to the Adventist Healthcare & You podcast. I'm Shanna,

Nimeet K 00:14
and i'm Nimeet

Nimeet K 00:15
Good, how are you?

Shanna M 00:15
Hi Nimeet, how are you?

Shanna M 00:16
Good. I am excited today because we have two very special guests with us. Dr. Shannon O'Connor, who is a medical oncologist with Maryland Oncology Hematology at the Shady Grove Aquilino Cancer Center. Welcome Dr. O'Connor. First time guest.

Shannon O'Connor, MD 00:30
Yes

Shanna M 00:31
We're happy you're here.

Shannon O'Connor, MD 00:31
I'm excited.

Shanna M 00:32
We are welcoming back Dr. Courtney Ackerman, who is also a medical oncologist with Maryland Oncology Hematology at the White Oak Cancer Center. Welcome back Dr. Ackerman.

Courtney Ackerman, MD 00:42
Thanks for having me.

Shanna M 00:43
Both Dr. O'Connor and Dr. Ackerman are cancer genetic specialists, and that is a topic that has come up in the news a lot lately. It's trending, a lot of people are interested in it. There's a lot of always new things in cancer treatment. But this was one of those things that's sort of at the forefront right now. So we wanted to have you in to talk about breast cancer specifically, and women and genetics for breast cancer. So welcome.

Nimeet K 01:11
I think it's a very exciting topic, and we have the experts here as well. So why don't you tell our listeners, what do you guys do within Adventist HealthCare? So I'll start with you, Dr. O'Connor.

Shannon O'Connor, MD 01:14
Well, I work with Maryland Oncology, as Shanna said, and so we are partners with Adventist and we care for the Adventist community, our Aquilino Cancer Center is right on the campus of the Shady Grove Hospital. So yeah, I see all kinds of cancer patients, and especially a genetic patients, especially with breast cancer.

Courtney Ackerman, MD 01:40
And I also similar to Shannon, I work at the White Oak campus, and we work closely between Maryland Oncology and Adventist HealthCare, I also do a lot with breast cancer and cancer genetics, we do see all kinds of cancer, but a large proportion of breast cancer in my practice,

Shanna M 01:58
I think what's special about both of our cancer centers is they're comprehensive. So everything is under one roof in both places. But you can get sort of this specialized treatment in this genetics area at both places. And we have that expertise. And so it's nice that we're able to offer that at both, at both locations. And so no matter where you are in the community, you can find a an expert like you all.

Shannon O'Connor, MD 02:24
And we have a genetic counselor also that works with Courtney and I at both locations, and so she just does genetic counseling and

Shanna M 02:31
Okay, so well let's let's kind of just go into that. What is this whole topic around genetics? How would you kind of describe it to patients, it's more than just family history, maybe.

Shannon O'Connor, MD 02:42
I mean, genetics in general is looking at family history, what's in your family history to see if you may be at particularly high risk of a specific type of cancer or may hold a gene mutation. So if a gene is mutated, that means it's not functioning properly, and it puts you at a particularly high risk of maybe one two or more cancers. And so looking for those specific mutations in the genes that you were born with is what we can test for. And we have a specialty and hereditary risk assessment just for cancer genetics. There's other types of genetics as well for diabetes and heart disease and things like that, that we don't do at our cancer center. So this is looking for specific cancer gene mutations in your body that you were born with.

Shanna M 03:23
Dr. Ackerman, for breast cancer in particular, what are you looking for, for genetics?

Courtney Ackerman, MD 03:29
So we're looking at of course, if there's a family history of other relatives that have had breast cancer, or if a breast cancer patient is diagnosed at a young age, that's another thing that increases the risk that it could be hereditary or genetically related. And nowadays, we're really testing it almost all women with breast cancer can qualify for genetic testing, it's become much more liberal. So a lot of women we talk to about it, even if they have no family history, we still talk to them about the possibility of doing genetic testing to fully assess their risk.

Shanna M 04:00
Does that help with treatment too?

Courtney Ackerman, MD 04:03
It can help with treatment. So for sure, it can help in helping to decide which type of surgery may be right for a woman if we know that she is an increased risk because of a genetic mutation, it may lead us to recommending mastectomy as opposed to lumpectomy, it may add other risks of other cancers, not just breast cancer. So we may enhance the types of screenings that we're doing for women, how often they need screenings, and what type of screenings they need.

Shanna M 04:31
So it's obviously wonderful for patients that have been diagnosed with breast cancer. What about patients that have a family history or are concerned about their risk is this type of testing available?

Shannon O'Connor, MD 04:43
It's definitely for not only people affected with cancer, but just people that have a particular family history. And it's tricky to say who exactly meets criteria because you have to have a certain number of cancers on the same side of the family and they have to fit into a specific pattern that might fit with that gene. So it's hard to just give a broad classification, but the the red flags in a family would be young cancers, cancers before age 50, multiple cancers of the same type, multiple breast cancers in the family, multiple colon cancers in the family, multiple gynecologic cancers in the same family, and young cancers or just many people on the same side of the family that have had cancer. So those are red flags to bring up to your doctor to say, do I need genetic risk assessment, counseling and testing?

Nimeet K 05:25
Seems like there's a whole algorithm to follow to see if they need to be tested or not. And if they qualify for these risk factors or not

Shannon O'Connor, MD 05:32
Yes

Shanna M 05:33
Underscoring the importance of continuing to see your primary care, your OB/GYN, having that conversation about what you know about your family history, about your own risk factors. So that if they are those, as you say, red flags, you can be referred to someone like you, Dr. Ackerman, for testing.

Shannon O'Connor, MD 05:51
Correct. And it's important to just know your family history. A lot of people don't even know anything about their family. So ask around ask your parents, grandparents, siblings, cousins, because that's important information.

Nimeet K 06:02
Someone gets tested and they're tested positive, what kind of genes are they positive for? Is there a certain mutation that you typically look for, or, you know, certain things that are positive in there get tested?

Courtney Ackerman, MD 06:14
So generally, when a patient gets referred for genetic testing, we will, you know, thoroughly review their family history, build actually their family tree and list out, you know, who's been affected with cancer, what age what type of cancer, and then we look at all of that as the genetic specialist and really try to look at what they may be at risk for and decide what to test for. Most of the time, nowadays, we do what we call panel testing, which is where we don't just test for one or two genes, we do a panel that usually encompasses 30, or 40 genes that are what we call the most common hereditary cancer genes. So it really covers the gamut of what the most common genes that we see as being mutated in people that have strong family histories or personal histories of cancer.

Shanna M 06:59
So it's more than just the BRCA?

Courtney Ackerman, MD 07:01
Absolutely

Courtney Ackerman, MD 07:02
Absolutely, so then we usually, you know, the really important thing about what we do is that we not only review the family history, but we really counsel the patients on what the testing means, what the possible outcomes are, what it could mean for them specifically, as well as what it could mean for their family. And we really get their consent before we do the testing and really see that they you know, understand all the implications and what this could mean for their future and for their family. And then after the results come back, we do a similar counseling session, where whether it's positive or negative, or something we call a variant of uncertain significance, we really go over that in detail with them and what it means and what it changes for their screening, their preventive measures for cancer, as well as what it means for their family members.

Shanna M 07:02
Ok

Shannon O'Connor, MD 07:50
And when you mentioned BRCA, it reminded me that patients should remember if they had testing for BRCA one and two, only those genes, you need to have these panel tests. So it's really important to never just check for BRCA one and two, that's never adequate to assess whether you have a gene mutation that's going to put you at risk.

Shanna M 08:10
Ok, and it speaks to the changing in protocols and knowledge that we have

Courtney Ackerman, MD 08:15
Shannon brings up a good point, because a lot of patients, you know, there are a lot of OB/GYN 's will do like very limited testing in their offices, and patients think that they've gotten every check. And then you know, and also if similar to what Shannon said, if you've been tested a long time ago, more than 10 years ago, more than five years ago, a lot has changed in the last few years. So we recommend repeat testing. If people have a particularly high personal or family history and had testing, you know, more than five to 10 years ago,

Shannon O'Connor, MD 08:47
Where just a couple genes were tested. Update, we call it update testing. So ask your doctor if you need update testing.

Nimeet K 08:54
Also, like one thing you mentioned was that preparing the patients for the testing and after the testing itself, you know, it's positive or negative, it's fine, but at least preparing them what the next steps should be. People getting tested for cancer are probably just very scared. And I think providing a holistic approach is so important.

Shanna M 09:10
Well, that raises a good question. If you do have a family history, or you may test positive for a particular gene, does that automatically mean that you're going to have cancer?

Shanna M 09:20
Okay

Shannon O'Connor, MD 09:20
It just means you're not at a higher risk for cancer based on that genetic analysis, but also if you have a negative genetic panel, you still may have an increased risk of breast cancer in particular. So that's why a genetic specialist really needs to get involved because there's other risk models that we have to calculate, even based on your negative genetic testing results, you have to plug in the family history, breast biopsies, age of the first period, all kinds of things, and then it still calculates a risk. And you can actually still meet criteria for high risk breast screening, and extra testing, even if your genetics are negative. So there's both, even if you have a gene, you're not going to definitely get a cancer. If you don't have a gene, you're you could still get a cancer. And then there's the in between your negative but you're still high risk.

Shannon O'Connor, MD 09:20
No. So each gene has a particular set of risks. So whatever that gene is, in that post counseling session that we have to go over the results, we would say, here's gene X, and here's your particular risk of this cancer, that cancer that cancer. Here's your screening protocol going forward, but each gene carries a specific risk. The highest percentage cancer risk, especially for breast cancer is BRCA one and two, which is as high as 85%, which may be a bit of an over estimate, but that's the highest risk gene, most cancer genes are gonna give you 30 to 40% chance or even 20 to 30% chance of cancer so you're not definitely going to get a cancer even if you have a positive gene mutation and If your genetic testing is negative, that does not mean you're never going to get a cancer.

Shanna M 10:28
It's so amazing, when we talk about personalized healthcare and personalized treatment, to me I am listening to you and i'm like, everything is down to exactly what you in particular will need and your particular unique case. It seems that from what I've listened to Dr. Ackerman speak and other of our cancer specialists, that that's really the way cancer treatment and the approach to screening is going, it's this very hyper personalized approach. Has that really been what has changed over the years with cancer treatment?

Courtney Ackerman, MD 10:47
I think, absolutely. I mean, in both our screening methods and our treatment methods, everything has become much more personalized based on genetics, based on the molecular and biologic profile of the specific cancers, based on mutations both in the cancer itself, as well as mutations, like we're talking about here that someone may harbor in all of their genes, those things all play a role in how we treat each individual patient.

Shanna M 11:48
We're getting better at finding it, treating it and preventing it.

Courtney Ackerman, MD 11:51
Yes, absolutely.

Shanna M 11:53
Dr. O'Connor, you brought up a good point about like, you're not guaranteed to get cancer. And there's so many other factors here. I want to just raise something that's not really genetic related, but I think speaks to women in general is be considered high risk, but not have a family history. And most breast cancers are diagnosed in women that don't have a family history, too. So it's still important to understand your risk level. Is that correct?

Shannon O'Connor, MD 12:18
Yes. I mean, it's true. Most breast cancers and most cancers in general are not genetically linked. That's what most people think, Oh, I have no family history of cancer, i'm safe. I don't have any extra risks, that's actually, only about 10% of the time do we find a cancer mutation or a really strong kind of family history that's going to suggest why that person got the cancer. Most of the time, we don't know why people get cancer. So 10% of the time, we have a good reason and 90% of the time, we don't have a great reason.

Shanna M 12:47
So family history is a risk factor. But there are other things that contribute to even still making you high risk.

Courtney Ackerman, MD 12:53
Absolutely.

Shanna M 12:54
Dr. Ackerman, is there a couple that off the top of your head.

Courtney Ackerman, MD 12:57
Sort of what Dr. O'Connor was alluding to a little while ago, when she said if you're gene negative, there's still risk models that we do. So there are risk calculations that we do. And that a lot of times now they're doing it at radiology places, when you get your mammogram, they're calculating something called a TC score or a tire acoustic score, which takes into account you know, your breast density, your age, at your first period, your age at your first child, whether you've had prior breast biopsies, whether you have a family history. So all of those things also count towards figuring out what kind of risk someone has. And even if your genetics are negative, those other factors can still add up to being at increased risk, even without a family history or a genetic positive mutation.

Shanna M 13:41
Well let's switch to screenings then. So if you're at high risk, either through genetics, through other factors, what are some of the screening recommendations or other screening options that are out there? I think, you know, we've talked a lot about mammograms, what are some additional things that women can do.

Shannon O'Connor, MD 13:58
If you're on the high risk protocol and your doctor would determine that, your gynecologist or genetic specialist or breast specialist would determine that, you would get an annual mammogram and an annual breast MRI but they're staggered by six months. So you're getting some breast imaging every six months and so you're alternating between mammogram and breast MRI. The good thing about breast MRI, there's no radiation, it's a magnet, no radiation. The downside is you do get an IV injection, that has a tiny little bit of risk with it. Mammograms do have radiation of course. And then the downside of breast MRI is claustrophobia. So you do have to kind of lay still and it's a small space. If you cannot tolerate a breast MRI, there is something called a whole breast ultrasound that can be substituted instead of the breast MRI. But in general imaging every six months is the recommendation if you're high risk, and then based on that imaging, we tailor it from there.

Nimeet K 14:50
And what are some of the costs associated with these testing are they like different costs?

Shanna M 14:53
Especially for the genetic testing? Yeah

Courtney Ackerman, MD 14:55
For genetic testing, you know, the companies that Shannon and I work with, a lot of times, if you meet criteria for genetic testing, it will be covered by your insurance.

Shanna M 15:05
That's good.

Courtney Ackerman, MD 15:05
But if you have a high deductible, or your insurance happens to deny the testing, the companies that we work with have a maximum out of pocket that they charge patients. So most of the companies have a 200 or $250, maximum out of pocket. So and you can even opt to use that self pay option, even if your insurance covers it, but you have a high deductible, you can flip to the self pay rate, which is no more than $250, with the companies that we work with. And a lot of times it's even less than that.

Nimeet K 15:36
Yeah, that's really good.

Shanna M 15:37
I know that seems. Yeah, for some people, that may seem like a lot, but at least there are options, and there to make it available to people.

Courtney Ackerman, MD 15:45
and the companies, I would say that's the maximum that they charge. But it can be much less than that. Yeah, and a lot of times insurance does cover it as well, so

Shanna M 15:54
There's options

Courtney Ackerman, MD 15:54
You really should look into it and not be afraid of the costs. And part of our job as doing the counseling is to really explain to patients, you know, how this part of it works as well. And they're not going to send you a big bill for you know, 1000s of dollars without you knowing about it, we really counsel you about that piece of it as well.

Shannon O'Connor, MD 16:11
And that's a misconception. People are like, oh, I didn't get genetics because it was too expensive. The maximum you'll pay is $250. And that is the max like, like Courtney said. Even if $250 is too much to pay, there's financial assistance, and a lot of the companies will actually run the test for free if you really need it. So

Nimeet K 16:27
that's great

Courtney Ackerman, MD 16:28
We have ways to work around that

Shannon O'Connor, MD 16:30
It's affordable, they did not used to be the case, the tests used to be three to $6,000 per test, and now they're $250. So that's again, technology advancement and

Shanna M 16:39
trying to make things more accessible for people.

Courtney Ackerman, MD 16:41
Yeah, and we've learned over the years that how important this information is, so they've made it more accessible for patients and for the general population.

Shanna M 16:50
Okay

Nimeet K 16:51
So if the patients are looking for a provider or a doctor, how should they go about that? What should they look for in a provider? And

Shanna M 16:57
where should they start? If they're concerned? Yeah.

Courtney Ackerman, MD 17:00
So a lot of times, you know, primary care doctors or OB/GYN 's are probably the most common people that will refer patients to genetics, also gastroenterologist. So I know we're focusing on breast cancer, but there are some, you know, if you have a lot of polyps and things, then GI doctors oftentimes will send patients to genetics as well. So I think Shannon had mentioned earlier, really important to make sure when you're seeing your primary care, you're seeing your OB/GYN, make sure you're letting them know what your family history is so they can steer you in the right direction. Patients can also self refer to us, you know, we're easy to find on Google. You know, we do get patients that self refer because they're Googling about genetics or Googling about, you know, family history of cancer and things,

Shanna M 17:44
Hear it on the news,

Courtney Ackerman, MD 17:44
Yeah, or hear it on the news or listen to a podcast. You know, those types of things. But so patients can be self referred. But also, a lot of times, it'll be your annual visit with your primary care, your annual visit with your OB/GYN that will kind of spur this.

Shanna M 18:00
Alright. Well, this was wonderful information, thank you. Do you have anything that you want to add for our listeners, that is important for them to know or that you want to clear up or just just add about?

Shannon O'Connor, MD 18:13
Like we said, just know your family history, ask your doctor, if you need to have genetic risk assessment, always go to a genetic risk assessment specialist, because not everybody knows how to do this counseling, knows how to get you the the self pay price of $250, or the free testing, we have a lot of ins and outs, and we've worked with these companies for a long time. And we have special training in this counseling. And it's not just about, hey, let's go and get the test. You really have to know the pros and the cons, you know, risk benefit, what's going to change about my management, so it's really important to actually get a referral to a genetic specialist.

Shanna M 18:47
Okay

Courtney Ackerman, MD 18:48
I think the most common thing I see is that when patients get it done, like, you know, in their OB office or something, a lot of times they're still getting like only the two, the BRCA one and BRCA two tested for which as Shannon said, is not adequate. So really make sure when you're embarking on doing genetic testing or thinking about it, that you really go to a specialist and really be counseled about the whole process and what you're really getting yourself into. We are able to do virtual visits and in person visits, so that also makes it easier for patients, they don't always have to come in person and the genetic testing can be done with like a saliva sample or with blood.

Shanna M 19:26
Okay

Courtney Ackerman, MD 19:26
So there's different ways that we can do it to get to the same information.

Shanna M 19:30
Okay, I love that you can do virtual. It's amazing now what you can do, amazing to see the progression of things that can be done virtual that maybe used to not be, so

Courtney Ackerman, MD 19:41
Absolutely

Shanna M 19:42
It's great that things are more accessible.

Shannon O'Connor, MD 19:44
And we can also get you plugged in if like I said, if you're negative for genetics, but you're considered high risk, we have a high risk breast clinic that helps order the mammograms and the MRIs, keeps track of the risk models, keeps track of the risk, and there are also some medications that you may be able to be prescribed to lower your breast cancer risk. So we have a whole clinic for that as well. So just because the testing was negative doesn't mean you're off the hook. And in the clear, you may need medication, you may need that high risk screening protocol. So we have a whole clinic for that as well.

Shanna M 20:13
Lots of options.

Courtney Ackerman, MD 20:14
I know we were focusing mostly on breast cancer, but I would just put a small plugin. It's not just breast cancer, you know, if you have a family history of colon or gastric cancer, or a lot of colon polyps or GYN cancers, you know, uterine and ovarian, those are all things to pay attention to, to that you should seek genetic counseling for those types of family histories or personal histories as well.

Shanna M 20:38
Okay

Shannon O'Connor, MD 20:39
In Ashkenazi Jewish patients, anybody who's Ashkenazi Jewish, who has any cancer in the family, anywhere. One cancer in the family, if you're Ashkenazi Jewish you meet criteria for testing.

Shanna M 20:48
I'm glad you brought that up, because I thought about that when you were talking, is there any relation to genetics and increased risk around ethnicity or race?

Shannon O'Connor, MD 20:58
Ashkenazi Jewish is the highest risk population for specific cancer genes. And so that's why the criteria is very loose for them to meet criteria for testing.

Shanna M 21:08
Okay. Well, thank you. I think the biggest thing, the biggest takeaway is advocate for yourself, you know, talk to your doctor, talk to your family, you know understand your family history, understand your risk. Doctors, they're there to help and they're there to partner with you. Thank you. Anything else Nimeet?

Nimeet K 21:26
No, I think we covered a lot of good information.

Nimeet K 21:28
Just want to thank our speakers for that.

Shanna M 21:28
Yes.

Shanna M 21:30
Yes, thank you. To find information about our experts today, you can visit AdventistCancerCenters.com and click on find a doctor and you can search. You'll find all the information about our physicians and the services at the White Oak Cancer Center as well as the Aquilino Cancer Center. Information will be available in today's show notes as well. You can also find our physicians at MarylandOncology.com. We'd also love to hear from you our listeners, you can let us know if you like the podcast by leaving a rating or review or you can email podcast at AdventistHealthCare.com and let us know what healthcare topics you want to know more about. Don't forget to subscribe so you get new episodes. Thank you and be well!