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Scott Webb: Inherited genetic mutations play a major role in about 5 to 10% of all cancers and genetic counseling is typically recommended for people who have a personal and/or family history suggestive of a hereditary cancer condition. It's important to know, however, that having a family member with cancer does not automatically mean that you're in a high risk family. And joining me today to discuss hereditary cancers and how genetic testing and counseling can help save lives is Morgan Dally. She's a genetic counselor with Franciscan Health.

This is the Franciscan Health Doc Pod. I'm Scott Webb. Morgan, it's so great to have you on today. I'm really excited about this. This is a fascinating topic. So let's start here. What are the most common types of hereditary cancers?

Morgan Dally: The most common reasons that we see patients for genetic counseling tend to be breast and ovarian cancer. So those are the most common types of cancer that I think physicians and patients are most concerned about, possible hereditary cause. But the indications for hereditary cancer continue to expand to where we're seeing more and more different cancer types.

So in addition to breast and ovarian cancer, there are other types of cancers that can be hereditary, which includes colon, endometrial or uterine cancer, pancreatic cancer, prostate cancer, and we're even seeing expansion into hematological malignancies as well, like leukemias. There's really a wide variety of different types of cancers that we're finding can have a known genetic component.

Scott Webb: Yeah. I know that inherited genetic mutations play a big role in as much as 5 to 10% of all cancers. So who's at the highest risk for the types of cancers that you're mentioning?

Morgan Dally: There's kind of a general list of indications that we use to help physicians know when they need to refer a patient for a genetic counseling. This list is meant to capture or include most patients that are going to be at the highest risk to test positive for a genetic mutation. So that includes individuals who are diagnosed with cancer at a young age, depending on the cancer type that is considered to be under the age of 45 or 50.

We look for individuals that have multiple primary cancers. So that's like somebody developing maybe one breast cancer and then a completely separate breast cancer in the other breast, for example, or maybe somebody developing a breast cancer and then an ovarian cancer. Also, individuals with bilateral cancer, so maybe like both kidneys being affected with cancer or both ovaries or both breasts.

We look for a strong family history of cancer. So if we're seeing that there are multiple generations affected, multiple family members, especially with the same type of cancer, that's definitely a red flag. We look for rare cancers that would include men developing breast cancer. Most people don't typically think of men being at risk for breast cancer, but they absolutely can develop that. And that is a red flag. Also, ovarian and pancreatic cancer are considered to be more rare cancers that can definitely be caused by a hereditary condition.

We also look for -- if there's somebody that knows in their family that there is already been a genetic mutation identified, we definitely want to see all family members related to that individual because they would be considered at risk for that same genetic mutation. And then we just always say that if there's a patient that has any concerns at all about their family history of cancer, we welcome them to make an appointment with us to dive deeper into their family history and see if it's something that would be appropriate for them to consider having done in terms of genetic testing.

Scott Webb: Yeah. And when we talk about family, it just occurred to me, you know, in this era of digital medical records, much easier to sort of have all those things at the ready, at your fingertips, on your mobile device. But when I think back to my grandparents or great-grandparents, when we talk about family history and the role that it may play in any of us developing cancers, probably a little bit difficult for people, right?

A lot of the people's memories are a little bit foggy, information might be sort of anecdotal. "Oh, I think grandma had this." Is that one of the difficulties for people in terms of, you know, bringing their family history and their medical records together for this type of counseling? Is it difficult for a lot of people to just track down who had what and when?

Morgan Dally: Yes, that's actually a very good point. You're absolutely right. It is difficult, especially when we get into kind of like the grandparent's generation. First of all, cancer was treated and diagnosed very differently, even when we go back 30, 40, 50 years ago. So it might've been that they really weren't told much by their doctor or weren't ever told what type of cancer they had or it wasn't even identified. So that creates a problem.

Also, I have found that with kind of the older generations, they didn't really like talking as much about cancer or I've noticed female cancers, if you will, so like ovarian endometrial, breast cancer, were not as widely talked about among family members, so that creates difficulty with knowing if that was in your family history.

And then there's also the possible issue of estrangement from family members. So we'll sometimes have patients who maybe don't talk to one entire side of their family, or maybe they don't have any information about their father or father's side of the family. So that can definitely limit, how much knowledge a patient has about what's going on in the family.

But I do find that when there are patients that are really motivated about knowing this information, there's typically maybe like one-point person in the family that's like the historian, that knows everything about the family lore and family history.

And we send out a detailed questionnaire prior to a patient's appointment that asks about three to four generations of that family history and what types of cancers and about how old they were when they were diagnosed. And so they can take that step by step and reach out to family members to try to track down some of that information.

So we try to support them the best we can to just get the information that we're able to get. And then sometimes, we might not be able to get that complete look at the family history and we just have to do the best we can based on what the patient does know.

Scott Webb: Yeah, you're so right. It does seem like every family has a sort of an unofficial family historian, you know? So in my family, I have an aunt. Everybody goes to my aunt because she knows everything and she remembers everything. So hopefully, a lot of other people have that as well, have that sort of family historian. But, you know, if people can't get complete family history records, the good thing is there are other things at our disposal here to try to diagnose, and let's talk about those things. Let's talk about genetic tests for hereditary cancer syndromes.

Morgan Dally: Yeah. So genetic testing has come a long way in the last 20 years or so. And even within the last five years, there have been so many advancements both in the technology that's used for genetic testing now, as well as the many different genes that we now know to be associated with hereditary cancer. So I always tell patients if they had come to see me more than five years ago, the testing we would have been ordering was much more limited. We were really just testing for a couple of different genes. Some people have heard of the BRCA genes or the BRCA1 and 2 genes related to hereditary breast and ovarian cancer. There's another condition called Lynch syndrome that is associated with hereditary colon and endometrial cancer.

And so the testing was much more limited. It was on a gene by gene, condition by condition basis. Now, the testing that we do, it can be done on either a blood draw or a saliva sample, and it includes analysis of many different genes. It's a very quick test. So the turnaround time is typically two to three weeks. The most common testing that we order for individuals is over a 40-gene panel. So we're looking at 40 different genes related to hereditary cancer. So not just those like BRCA1 and 2 genes, but also multiple others that span cancer risks related to multiple different types of cancer.

And so we typically get those results back in two to three weeks, and then we follow up with the patient and call those results out to them and talk about what those results showed, what that means for the patient, what that means for potentially their family members, if they were to test positive, for example. And we make sure to counsel the patient appropriately, and send that information back to their referring provider and healthcare team.

So in a lot of cases, if we get a positive result-- less than 10% of tests that we send out come back positive. But when we get a positive result, that tells us, you know, what gene a mutation was found and, based on that result, we know what the specific risks for cancer are related to that gene and that gene mutation.

And then based on those cancer risks, there are oftentimes established medical management guidelines that provide recommendations for how to follow that patient appropriately. So that might include additional screening. If for example, the patient is at a high risk to develop something like breast cancer, we might start breast screening at earlier ages and do additional breast screening as well. So something like a breast MRI in addition to a yearly mammogram. If the patient is at a high risk for something like colon cancer, we might start screening colonoscopies at younger ages and do those more frequently.

Sometimes there are even preventative surgeries that are an option for individuals. An example of that might be if there's a significantly increased risk for something like ovarian or endometrial cancer and a woman is nearing the age of maybe natural menopause and is done having children, she might elect to have a preventative hysterectomy to reduce that risk of developing those types of cancers.

So we follow these established guidelines to try to, you know, be proactive about that risk for cancer to lower the risk of that patient developing cancer, or in some cases prevent it from happening altogether. And we make sure to communicate that to the patient's entire health care team, so everyone's on the same page.

So that's a general summary of what might happen for a patient that comes in to have testing, maybe based on a family history of cancer. But we're seeing a lot of patients that have active cancer diagnoses as well, meaning they've recently been diagnosed with cancer. They're undergoing treatment at this time for that cancer diagnosis and then these test results can sometimes help guide their surgical decisions and even some of their treatment options for that cancer diagnosis as well.

Scott Webb: I'm wondering when should we consider genetic testing and counseling? Is there a certain age? If we have a family history, is it 30, 35? When should we make that call, come in and so on?

Morgan Dally: Yeah, that's a really good question. Most of the kind of red flags for hereditary cancer that we talked about are a good guideline for knowing even if you should consider a genetic counseling or testing, if you have some of those red flags of, you know, multiple family members diagnosed with cancer, especially if it's the same type of cancer. So multiple family members with breast cancer or colon cancer, for example. If we're seeing anybody with early onset cancer in the family, if we're seeing rare type of cancer, if there's a known genetic mutation already. But in terms of an actual age for recommending it, that really varies.

We will test most individuals over the age of 18 for these genetic conditions. We typically don't test minors for multiple reasons. But if it is an adult onset condition, which most of these hereditary cancer conditions are with just a few couple of exceptions. Most of them are adult onset cancer risks, meaning we aren't going to start screening until adulthood and the earliest that most of the screening is recommended is to be in the early to mid-20s.

I would say anybody over the age of 18 that has concerns about their family history is absolutely encouraged to either talk with their doctor, even just talking with their primary care doctor about those concerns or their OB-GYN. And then if we see them in the office for genetic counseling, it is possible that we might recommend that a different family member actually do genetic testing first.

For example, let's just say somebody who's concerned about their family history of breast cancer and their mom was just recently diagnosed with breast cancer. Based on the family history, it might be our recommendation that we actually test the patient's mother who has breast cancer to then know if there even is a genetic mutation in the family that the patient would be at risk for. So in some cases, there is a strategy to who we test in the family to glean the most information and the most information about that patient's risk for cancer and a genetic mutation as well.

Scott Webb: Yeah, definitely. And I'd really love the approach. All the information you've brought today and really that approach of trying to pull as much information as you can and make the best and most informed decisions that you can, you know, on how to move forward with people. So, really great stuff. Anything else we want people to know about hereditary cancers, genetic testing, the work that you do?

Morgan Dally: You kind of hit the nail on the head. Knowing your family history is really first step, right, to being informed and making informed medical decisions about your risk for cancer and being proactive about that risk for cancer. So I just always try to encourage patients to talk with family members.

If there is someone in the family, they can talk to about that, to know how much cancer is in the family. I find that patients often are really surprised once they actually do the work to kind of track down that family history. And they do that three to four generation family history questionnaire, and they come in and they say, "You know, I knew there was cancer in the family, but after I did this, I realized, you know, there was more than I had even thought."

So I think that's the biggest point I want to make is just how important it is to know your family history. And that's not just cancer. I mean, knowing any medical conditions in the family is going to help your doctor be able to manage your health the best that they can.

The other thing I would also like to just emphasize is that I think there's a misconception that genetic testing or genetic counseling is very expensive or something that might be unaffordable for a lot of people. But with the advances of genetic testing technology and with the improvement of insurance coverage, we actually find that coverage of genetic testing is very, very good. The same goes for the genetic counseling appointment. And we talk with the patient about that and we find that most patients pay less than a $100 out of pocket for the actual testing itself.

And so that's just something I wanted to highlight, because again, if you had come to see me more than five years ago, our conversation might've been very different in terms of what the actual cost was, but now, you know, it's become a lot more affordable.

Scott Webb: Yeah, that's a great way to end, and I’m glad you brought up the affordability of this and just think about that, you know, a hundred bucks in most cases and everything that you're testing for and what those results could mean for a person, for a family. So really amazing having you on. Great information, really fascinating topic. And, Morgan, thank you so much for your time today and you stay well.

Morgan Dally: Thanks for having me. You Too.

Scott Webb: Go to FranciscanHealth.org/cancer to learn more about genetic testing and counseling, or to take a health risk assessment to see if you're at risk for some of the most common hereditary cancers. And we hope you found this podcast to be helpful and informative. This is the Franciscan Health Doc Pod. I'm Scott Webb. Thanks for listening.