Cheryl Martin (Host): Certain gene mutations can increase the risk of breast cancer. Genetic testing can lead to early detection and save lives. Deena Wahba is a genetic counseling manager with BayCare. Her passion: educating people about hereditary cancer and their options. We'll talk specifically about breast cancer genetics and screening for risk.

This is BayCare HealthChat. I'm Cheryl Martin. Deena, thanks for coming on to discuss such an important topic.

Deena Wahba: Thank you so much for having me, Cheryl.

Cheryl Martin (Host): First, talk about breast cancer statistics and the risk factors for breast cancer.

Deena Wahba: Sure. So, we know that breast cancer is the most common cancer among females, aside from lung cancer and skin cancers. About 12.3% of women develop breast cancer over their lifetime. Most of the time, we'll see this at older ages: 60’s 70’s, 80’s, but especially when we see a young woman diagnosed with breast cancer, or perhaps several generations of breast cancer in a family, that makes us more suspicious that there could be a cause of breast cancer being passed on in a family.

Risk factors for breast cancer could include lifestyle risk factors such as smoking or certain exposures to different chemicals, weight, things like that. And then there's uncontrollable risk factors or risk factors we can't control, such as our family history, when we start our periods, if women become pregnant. Things of that nature.

Cheryl Martin (Host): Talk about the genes that contribute to hereditary breast cancer.

Deena Wahba: The most well-known genes that contribute to hereditary breast cancer are the BRCA1 and BRCA2 genes. We've known about these genes for over 30 years, and they are definitely some of the most high-risk breast cancer-related genes. And I do want to make it really clear: Every single person has two copies of each, the BRCA1, BRCA2 genes.

It's when these genes have a mistake or a mutation that we’ll actually see elevated breast cancer risks. Only about 5-10% of breast cancers are hereditary, and half of these breast cancers are caused by mutations, or mistakes, in the BRCA genes.

So there are many other genes that contribute to hereditary breast cancer risk. They’re more recently discovered genes, so ATM, PALB2, CHEK2, STK11, etc. But typically nowadays when we think about genetic testing, we offer comprehensive testing that incorporates analysis of all of the potential genes that could contribute to hereditary breast cancer, but also other types of cancer.

Cheryl Martin (Host): So if a woman, for example, is concerned about the risk of breast cancer in her family, should she be proactive and come in for genetic counseling?

Deena Wahba: I always empower individuals and educate providers about the impactful nature of genetic counseling and potentially testing. Whether or not a woman decides to proceed with genetic testing, which they may, they may not, for various reasons. Genetic counseling is extremely helpful when it comes to even calculating a woman's risk for breast cancer based on a certain family history or clinical risk factors.

I mentioned earlier, age of menstruation, age of menopause, if one's been pregnant, how many times, at what age do they give birth? All of these clinical factors can be taken into consideration along with height, weight, and then family history of cancer to calculate a woman's risk to develop breast cancer over their lifetime. And if lifetime risk exceeds 20%, for instance, then we would recommend a breast MRI.

A breast MRI would be done in conjunction with a mammogram alternating every six months. If five-year risk of breast cancer exceeds 1.7%, we actually can talk about chemo prevention, which is medication to lower breast cancer risk. So while increased surveillance would allow for earlier detection of a potential cancer, chemo prevention would actually lower breast cancer risk by about half over a five-year period. So that's just the genetic counseling component. I haven't even gotten to the genetic testing piece.

So with genetic testing, we can certainly identify if a woman has a mutation in their DNA that increases their breast cancer risk. Oftentimes, these genes associated with hereditary breast cancer are associated with additional cancer risks as well, whether it's ovarian or colon or pancreatic. This has a significant impact on how we screen and manage an individual's health. So if we find that a female has a BRCA1 or 2 mutation, of course, we would talk about increased breast cancer surveillance, usually starting at 25 years of age. They would also have the option of prophylactic mastectomies to reduce breast cancer risk by the removal of breast tissue.

We would also talk about removal of the ovaries and fallopian tubes. Once a woman has completed childbearing. Typically around age 40. There would be options for pancreatic cancer screening. So, although a woman may come in just for a family history alone of breast cancer testing could reveal certainly that there are other cancer risks that need to be addressed and monitored and managed appropriately.

Cheryl Martin (Host): And what's involved in that testing?

Deena Wahba: Testing, in our setting, often involves a blood draw and the commercial laboratories we use for this testing. We'll arrange typically for a mobile draw, so they will ship a patient a blood kit. A local lab will call the patient to schedule a blood draw at their convenience at the patient's own residence.

And once the sample gets to the lab, the lab will contact the patient regarding any billing issues. Oftentimes, insurance covers the cost of testing, but depending on the specific plan, copay deductible, there could be a lingering cost, which the lab will address with the patient directly. We, genetic counselors, upon receipt of results, typically contact the patient within one to two business days to relay those results to the patient. If positive for any hereditary cause of cancer, even if it's an incidental finding, we may find, oh, this patient has an increased risk for colon cancer, but they came to us because of breast cancer in the family.

Regardless, we always talk to the patient about the positive findings, implication for the patient and their family members because we each share half of our DNA with our siblings, children, parents, and we also draft a family letter so that the patient can share this information with family members about implications of test results for their family members, how to get genetic testing, etc.

Cheryl Martin (Host): This is great. So how often do you get someone coming in who wants the testing but has no proof of breast cancer, let's say, running in the family or any other cancers?

Deena Wahba: So when we actually take a family history, we don't require that the patient bring in their family members' medical records that state, oh, my mother had ovarian cancer or breast cancer or whatever cancer. We collect the family history as reported by the patient. But let's say a patient comes in and says, I have no idea what my family history looks like. I was adopted and I literally have no information of my family and what's going on medically and relatives, there are testing options for those individuals. At this time, they're mostly self-pay. So proactive testing that looks at about 163 genes for cardiovascular and hereditary cancer risk.

This can be paid for with an HSA, FSA, credit card. If an individual doesn't have an HSA/FSA, it can be broken down into installments. So it is meant to be affordable, but there are some folks who just have a very limited history in their family and would like this information to make more powerful decisions when it comes to their health care and informed decisions.

Cheryl Martin (Host): Well, what I like about it is what you said. The testing may reveal possible cancer at some point, other types of cancer. And it's been my experience a lot of times when you go to the doctor, you don't automatically just get this testing. Only if you're having some problems, and then they decide to test that particular area.

Deena Wahba: That's exactly right. And our group of genetic counselors at BayCare, we made a decision probably about five years ago to always offer the most comprehensive tests to our patients. That checks for, you know, not only a predisposition to cancers that are in a patient's family, but also, any other potential hereditary type of cancer.

And the more I've practiced, the more I've appreciated that this information, although incidental mutations may be found, is very powerful for patients over time. It saves lives over time. If we know someone has an elevated risk for a rare neuroendocrine tumor or a kidney tumor that we would not have checked for otherwise, just based on family history alone or personal history.

It's very powerful information that allows for early detection or prevention of certain types of cancer, which is lifesaving, life changing, and it doesn't only affect the patient, it affects their family members. So again, our genetic counseling team at BayCare really made the decision years ago to always offer the most comprehensive test available and to ensure the patient that when results come back, we will be there to go over those results in detail. And I really don't want to even take away from, you know, most patients come back with a completely normal result. Negative. No mutations found, no hereditary cause of cancer found. But that certainly doesn't take away from their family history of cancer or any clinical risk factors they may have that increase breast cancer risk.

For example, atypical ductal hyperplasia, atypical lobular hyperplasia are benign lesions of the breast, but they elevate breast cancer risk development. So we always run risk assessments for our patients who test negative during genetic testing. We make sure we're offering appropriate screening or medical interventions.

A negative test result certainly doesn't mean someone's in the clear of any elevated risk. So it's a piece of the puzzle. It's a powerful piece of the puzzle.  But as is an individual's personal and family history, which is really why it's helpful to have genetic counselors assess all those components. Come up with a plan for a patient, run appropriate risk assessments and help them determine how to explain this information to family members and the importance of this information.

Cheryl Martin (Host): That leads to the question you talked about you provide the person with a letter to share with family members. Any other aspects of that you want to discuss? Once a person has been tested, they have this information, do you share with them specifics on how to broach family members or next steps for family members?

Deena Wahba: I always make it clear to the patient that it's strongly encouraged that if you do test positive for a mutation, share this information with your family members. If there are strained relationships, I try to identify if there's someone in the family who perhaps has a better relationship with a particular individual.

 It’s not uncommon that there can be some fracturing within families due to a variety of reasons. However, I do always try to encourage sharing of information, even if it's a quick Facebook message that has the PDF that we send the patient attached to it. The family letter is de-identified.

It just says, “Dear family member, Your family member has tested positive for a cancer gene mutation. Because you're related, you may also have this. This is what was found, this is what it could mean for you in terms of your screening and management. This is how to get genetic testing.” Then we go over insurance options.

We talk about potential discrimination. So in some states there can be higher premiums or denial of coverage by life insurance, long-term care insurance, long-term disability insurance based on genetic information alone. In Florida, we actually have a law that prohibits that, but that's not true in every state.

So the letter talks about that as well. It talks about how to find a genetics professional to go over this information with them and walk them through the genetic counseling and testing process. It also has our office contact information for questions. Butt we try to make the letter as detailed about the genetic finding as possible without an abundance of patient information.

It just says, “Dear family member, your family member has tested positive.” So we try to make it easy to share for patients. It can be difficult information to share, and we do go through strategies with patients when needed, to help elicit the best response from their relatives and help in the sharing process.

Cheryl Martin (Host): This has been great information. Just before we wrap up, anything else you want to share about breast cancer genetics and the importance of screening for risk?

Deena Wahba: I think, you know, there have been cases over my career, patients over my career, that will always stay with me, linger in my mind, for a variety of reasons. One patient that comes to mind was a woman who, she was 30 when she developed breast cancer. I saw her at the age of 60. Now she has ovarian cancer.

She had a sister who died at 24 from breast cancer, and my patient actually ended up raising her sister's children along with her own. You know, we offered her genetic testing and sure enough, this patient comes back with a BRCA mutation. Had we have known this, she would never have developed ovarian cancer, but she was never offered genetic testing despite the burden of cancer in the family and in herself.

And I remember feeling an immense amount of disappointment, anger, frustration, sadness for this patient who would go on to pass away from this diagnosis. And the patient was sitting in front of me while I'm telling her these results, and she had a smile on her face and she said, “You know, I feel hopeful. I feel hopeful that my family will now know what the cause of the cancer in the family is, and they can take steps. I've left a great legacy. I have my kids, I have my numerous nieces and nephews. I've lived a wonderful life.” I think it's that kind of appreciation of how resilient some of my patients are that really has left a mark.

The other thing is, gosh, we could have let this woman leave even more of a legacy, have even more good years. And I think that's the hard part. So I really take to heart the amount of responsibility that health care providers, including myself, have when it comes to making sure genetic testing is offered and made available.

And then helping patients not only get the testing, but ensuring they can share the results with family members that are so impactful, lifesaving. And I guess that is the thought I would like to leave people with today. If you have an urge to seek genetic counseling, discuss genetic testing, reach out to our office.

There's plenty of genetic counselors in the Tampa Bay area, at different locations. There’s so many of us and we all have the same goal in mind. It's just to empower individuals to really take control of their cancer health and engage in life saving and quality of life improving decisions.

Cheryl Martin (Host): Well, you have been a great, great advocate and your passion is evident. Deena Wahba, thank you so much for educating us on breast cancer, genetics, and the importance of screening. Very informative. Thank you.

Deena Wahba: Thank you.

Cheryl Martin (Host): That wraps up this episode of BayCare HealthChat. Head on over to our website at BayCare.org for more information and to get connected with one of our providers.

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