Amanda Wilde (Host): Genetic testing is an increasingly important tool to identify hereditary health risks. Today we'll talk about how genetic testing works, why it's important, and who should get tested with Megan Mortenson, Genetic Counselor Oncology WakeMed Cancer Care. This is WakeMed Voices, the podcast from WakeMed Health and Hospitals.

I'm Amanda Wilde. Welcome, Megan. Thank you for being here.

Megan Mortenson, MS, CGC: Glad to be here today.

Host: So can you talk first of all about the role genetics plays in cancer care?

Megan Mortenson, MS, CGC: Yes. Increasingly, genetics plays a role in how cancers are both prevented by identifying individuals who are at an increased risk of cancer early, as well as how we treat cancers, as medications have begun to be developed that allow us to target in broken pathways within a individual who has cancer.

 So it has increasingly become very important for us to pay attention to not only the person in front of us with cancer, but the family history and what could be causing cancer in this family. Of course when it comes to cancer, only about 10% of all cancer is due to a genetic cause. But figuring out who those individuals are is very important for taking care of both individuals who currently have cancer, but also their family members.

Host: And how do you figure out who should have genetic testing? When is it recommended?

Megan Mortenson, MS, CGC: Well, there are ever-changing guidelines that tell us who, and it could be very specific, but there are certain features that we look for both in an individual and a family history, certain red flags. Sometimes it's just what the cancer is itself. There are several cancers we know have a high chance of being due to a hereditary cancer condition. For example, pancreatic cancer and ovarian cancer. Both have about 20% of individuals who find themselves with those cancers do so because of a hereditary cancer condition. So sometimes it's the cancer itself that gives us the hint that we need to offer some cancer genetic testing.

Other times it's when the cancer happens. So when we see very young cancers in individuals, so we see breast cancer in a woman under the age of 50 or colon cancer in a young person as well. Those are signals that we might want to look at hereditary cancer conditions. And then just looking at the family history and seeing multiple individuals either with the same cancer or cancers we know are linked genetically, are all things that we look for to identify who the people are that who should have genetic testing.

Host: Well, how does someone like you, a genetic counselor, work with patients, and families and physicians to determine if a cancer or a family history of cancer has a hereditary cause? What is the process?

Megan Mortenson, MS, CGC: So normally what happens is the patient has identified. Here at WakeMed we use several family history tools to identify who would be the best individuals to refer for genetic testing. And then the from the patient perspective, they're told that their family history, or personal history may be concerning and that they'll get an appointment with one of our cancer genetic counselors.

Those appointments can occur via video visit or via in person, and they typically last about 30 minutes to an hour. During that time, we take a very detailed family history regarding all the family members that you know about that have any cancer history, as well as those who did not have cancer.

And then we talk about genetic testing in a lot of detail. Talking about the benefits of the testing, what the limitations of that testing are, as well as what the costs are. If the patient, after hearing all of this information is amenable and would like to proceed with testing, then a sample is gathered, either a blood sample or a saliva sample. And then testing is sent off to a lab that will do that testing and results come back in about two to three weeks.

Host: In that situation, do most people choose genetic testing or do many people decide not to do that?

Megan Mortenson, MS, CGC: It's a mixed bag. The majority of people who make it to the appointment, lots of people say no at the get go when approached by their doctor and say that that's not information they're interested in. But most of the people who end up in my office are already prone to wanting to proceed and most of them do proceed with testing. For those that don't, there's certainly a number of reasons an individual may not be interested in testing and that's always a completely acceptable response. But as testing has become much more useful in treatment, patients are much more interested in because it can affect their treatment and also as testing has become much more affordable, it has become much more acceptable to proceed with testing.

Host: And then for those who get tested, how do genetic testing results impact the treatment options?

Megan Mortenson, MS, CGC: So for certain types of genetic conditions like the BRCA 1 and BRCA 2 gene, as well as conditions like Lynch syndrome, there are certain treatments that over the years we have realized work better for those individuals as well as treatments that have been specifically designed to use that broken pathway within that individual to help treat that cancer.

So it can have a very large impact on the treatment of a current cancer, but it also can have a huge impact on what we do to prevent cancers. So individuals who know their cancer risk can modify how they are screened for cancer as well as choose surgeries and medications that can help reduce their risk for cancer. And so be very preventative and hopefully prevent cancers.

Host: Right. That's the goal. So the treatments are informed by genetics and how do we understand the test results when they come in, whether they are positive for a deleterious mutation or not.

Megan Mortenson, MS, CGC: So here at WakeMed, after test results are back, you will again either meet in person or via telephone with the genetic counselor to go through those test results in detail. If a person is positive, there will be a long conversation about that particular gene. What are the cancer risks and which body parts are at risk, based on that particular gene, as well as what are the recommendations as to what next steps are to take best possible care of that patient?

I'll use an example. So Lynch syndrome is a condition that's associated with colon cancer, endometrial cancer, ovarian cancer, stomach cancer, and a slightly increased risk of other digestive tract cancers. So an individual who finds out they have Lynch syndrome is recommended to be followed very closely with colonoscopies and endoscopies for the stomach and the colon, as well as women who have that condition are recommended to be followed very closely by their gynecologist and consider surgery for removal of their reproductive organs once they've completed their family to help remove that risk.

But the recommendations are very specific to each particular gene. So the genetic counselor will go over the specifics of a person's genetic change with them. So even if somebody has a negative test result, there's still an extended conversation with the genetic counselor about, well, your family history is still your family history, and how should we take care of you even if you're negative? And so even if a person comes to me and tests negative for a gene mutation, I would still talk about how best we should be watching that person for cancer in the future. And sometimes that means increased cancer screening and sometimes that doesn't.

Host: So as a genetic counselor, I'm hearing you really have to be up to date on the latest research involving genetics, and it seems to be evolving quickly. What have you seen in the evolution of genetics over the years?

Megan Mortenson, MS, CGC: Well, I've been a cancer genetic counselor for eight years, and I've been a genetic counselor for more than 16 years, and when I studied there were only a handful of genes to talk about related to cancer. And so since I started in 2006, the number of genes has greatly increased. We now test for more than 80 genes when someone comes in for hereditary cancer testing in comparison to just a few genes previously, and we also back then, had fewer guidelines and fewer recommendations of what to do next.

Lots of people chose not to know what their genetic test results were just because they didn't think it was going to matter or change how we would take care of them. And that was true cause we didn't know necessarily what to do. We have a much clearer picture of how to take care of people once we identify these conditions.

And then one of the biggest things that has changed has been the price of genetic testing. Genetic testing used to be prohibitively expensive, several thousand dollars for just a handful of genes. And now testing is covered much better by insurance. But if it has to be paid for out of pocket, it's less than $300. So that has made it much more accessible to a larger group of people.

Host: That's great. So that should continue trending in that direction.

Megan Mortenson, MS, CGC: Yes, I expect that more genes will be added as well as the costs may go even further down. And certainly I expect that it's just going to become more and more common for it to be a part of our general medical healthcare.

Host: Well, Megan, thank you very much for this important conversation to help us understand the link between genetics and cancer care, and thanks for being there for your patients and families.

Megan Mortenson, MS, CGC: It is my pleasure, to work with all the families I work with. It's, it's a true pleasure to work with our WakeMed patients, and thank you for having me today.

Host: That was Megan Mortenson, Genetic Counselor Oncology WakeMed Cancer Care. To learn more about WakeMed Cancer Care, visit www.wakemed.org/cure. And if you found this podcast helpful, please share it on your social channels and be sure to check out the entire podcast library for topics of interest to you. I'm Amanda Wilde with WakeMed Voices brought to you by WakeMed Health and Hospitals in Raleigh, North Carolina.