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Prakash Chandran (Host):  Each one of us has a unique genome based on the sum of all of our DNA. This contains hereditary information that might be relevant to our health. With advances in technology, we can now learn through testing and the guidance of a genetic counselor, what medical conditions we may be predisposed to. Let’s talk about it today with Amanda Nascimento, a Genetic Counselor and the Cancer Center at Harrington Hospital.

This is Healthy Takeout, the podcast from Harrington Hospital. I’m Prakash Chandran. So, first of all Amanda, let’s start with the basics here. What exactly is genetic testing?

Amanda Nascimento (Guest):  So, genetic testing is when a sample usually blood, but not always is taken from a person and basically is tested to look at the DNA code to see if there are any changes that could increase a person’s risk for developing or even having a specific genetic disorder, like cancer for example.

Host:  I see and when you are testing, are you testing specifically for one thing at a time, like the cancer, or do you test it once and it tells you an array of things that could potentially be wrong?

Amanda:  Well that depends on how the testing is ordered. But the technology exists to do either one of those things. So, you might have heard of whole genome sequencing is sort of a newish technology where basically you give blood and they test all the major genes to see if there are any changes. You might be testing for Alzheimer’s or cancer or any number of conditions. But if you say you come to the Cancer Center at Harrington; we’re generally not going to be testing people for predisposition to Alzheimer’s, we’re going to be testing more specifically for cancer genes.

Host:  Okay and just to clarify here, I think the only thing that I know about genetic testing is something like 23andMe. Right, where I submit like a cotton swab, I send it out and it sends me something back. How is this different?

Amanda:  23andMe can, in some ways it’s really a lot of it is the same. They are taking a sample and they’re testing someone’s DNA and looking at different spots in their genes or in their genome for changes or variations or you might hear the word mutation. So, but that’s not necessarily specific for your doctor is looking for a particular disease or a particular condition. So, what we would do say at the Cancer Center or maybe a cardiologist might do, or a neurologist might do would be to test more specifically for disease genes.

Host:  I see that you are a genetic counselor. I’m curious to learn a little bit more about what that is and what you do as a genetic counselor and when you get involved.

Amanda:  Basically, a genetic counselor is someone who has training in both genetics and counseling and communication. So, at its core, genetic counseling is helping people understand all this complex information because the more we learn about genetics, I feel like the more complex it gets really. So, it’s basically helping people understand this type of information and also how it affects themselves, potentially their children, their siblings because when you are taking a genetic test; it’s a lot different from a complete blood count or getting your blood glucose taken. Your genetics really can affect lots of other people in your family. So, a genetic counselor’s job is to help a person understand not only what the information means but potentially how does that affect their children or again, their siblings or other people in their families and just helps them process some of that information.

Host:  Yeah, that makes sense and I love what you were saying there. One thing is the competence of understanding genetics but the other is communication because like you said, it is so incredibly complex. I’m curious as to when a doctor might recommend or order genetic tests. Can you talk to us a little bit about the lifecycle of when you get involved?

Amanda:  I can, and I will specifically talk about cancer just because that’s where I am but if you have the questions about OB-GYN or something like that, I used to do that, so I could speak about that as well. So, generally, what we would see in the Cancer Center is a person would go to their just primary care physician for a check up or maybe they have just something they are checking on like who knows, they twisted their ankle or who knows, whatever, you go to your doctor and they may take a bit of a history. Often doctors will have you fill out a form and it will just basically say like does anyone in your family have heart disease or cancer and if cancer, then who. Who in the family has cancer and then the doctor may look and say wow, there’s several people with particular types of cancers, maybe they are related cancers, like breast cancer and ovarian cancer together can sometimes cluster. You might see it in multiple generations. You might see cancer in people who are young so for example, breast cancer in a woman before menopause might be a red flag. Male breast cancer, things like that that are just kind of red flags or multiple individuals who have cancer.

So, then the doctor might say, I’m a little bit concerned about this family history. I’d like for you to go see a genetic counselor to talk about it and it’s a person’s choice. They don’t have to come. No one has to come see a genetic counselor. But if they are interested in learning a little bit more about the family history, my job would be to take an extensive family history to ask more questions, to really dig into the patterns of cancer in the family. And then potentially if it seems like the right family, meaning that they fall under particular guidelines for testing, I may offer genetic testing to them which they can accept or decline. So, nothing is mandatory.

Host:  Yeah, but just at a high level, how do you then determine who is a good candidate for genetic testing? Like what is the threshold that you look for?

Amanda:  Yeah, well that is very dependent on the cancer and on the family history. So, there is something called the National Comprehensive Cancer Network or NCCN for short and it actually does have some nice guidelines in place already for particular cancers. So, again, if we take the example of breast cancer. If you are seeing a woman who has breast cancer at age 30, that’s very young. So, that would be a red flag and then maybe they have a sister with ovarian cancer and a mother. So, you really take the whole picture and that why it’s important to take a three generation at least three generation family tree because you really can get a sense of what types of cancers, who had the cancer, how old were they when they developed cancer and based on what people can provide in terms of their family history; that’s when you compare that to the NCCN guidelines and then you can offer testing.

Now to clarify, I could say to a person well you don’t really meet the testing guidelines but I certainly, if they wanted testing, we could certainly still do an informed consent and order genetic testing. It just may not be covered by insurance if it doesn’t fall within the testing guidelines.

Host:  Okay, understood. And just for a lay person here who is like well this sounds really interesting. I want to see what’s been in my family history, what the future generation might be predisposed to. Could they just go to you and say like heh this is something that I’m interested in or do they really have to be referred by a physician?

Amanda:  I mean generally, at least the way it works at the Cancer Center where I work; is it really does have to come from their doctor. I guess theoretically, you could just say heh, I’m kind of interested in this but I think generally for us, we’re taking referrals from the community of doctors within the health system.

Host:  So, two questions here. How accurate is the information that you are getting back from testing and the second question is once you pass that along to the physician, how does that inform them in terms of the way that they give out treatment?

Amanda:  Goof question. So, I’m going to start with the first question and just tell you the second question the answer is going to be it depends. But let’s start with accuracy. So, the labs that we use are it’s called CLIA certified, it’s basically the labs are certified by a body that goes into different labs and makes sure that they are using best practices, that they are validating their samples and all of that kind of stuff. So, in terms of accuracy, I mean nothing is 100%. I mean no one can ever tell you a test is 100% accurate but the results we’re getting because we only send to labs that have good reputations and they’re very well validated. If I see a positive result, I trust that that result is positive. Does that answer that question?

Okay. In terms of sort of – well let me make sure I remember the question. Was it how would a doctor use that information? Is that what you asked?

Host:  Yeah, that definitely answers it.

Amanda:  Okay so it kind of depends. So, if a person walks through the door and they have cancer already, and we’re just testing to confirm that in fact okay the cancer in your family is due to this particular gene mutation that you inherited from your parents and potentially you passed on to your children. What happens is then well a couple of things. But essentially, what then we could do is say okay so you have breast cancer, there’s a 50:50 chance that that was passed down so you wouldn’t necessarily test a child for a breast cancer gene, but at least you would know okay when my child is a bit older, 18 or whatever, whatever age you decide is appropriate for your child; you might tell them heh, you have a risk to have this particular gene mutation. You could have genetic testing or maybe not. Maybe that child just knows that they need to be pretty adamant about screening, breast self-exams for example or mammography and just to not sort of let those things fall by the wayside.

If someone is still in childbearing age, so say it’s a woman who has had either breast cancer or a family history and was tested and she’s still interested in having children; there is technology that can be done to test an embryo or a child before birth for mutations. Not everybody would necessarily do that but that’s just available. So, that’s another way you could use the information.

Host:  So, in hearing everything that you are saying, it really does sound like that this gives not only the patient but the doctor more foresight in terms of what they may be predisposed to and then obviously, over time, and seeing a lot of different genetic data, the doctor can make better decisions because they are evaluating the cohort of patterns that they are seeing through the data over time. Is that correct?

Amanda:  I do think so. I do think that the more – clearly the more we know, the more targeted and personalized information that can be given to patients. So, for sure. One thing I actually want to make sure I do say is sometimes even having a negative test result is useful. So, I don’t want to make it sound like we are always fishing for mutations. I mean sometimes, if we know that in a particular family, maybe again, there’s a breast cancer gene mutation and someone tests negative, then it doesn’t mean that they’ll never get breast cancer for sure, but what it means is maybe you don’t have to go through so much screening. Mammography once a year, MRIs once a year. So that means every six months going to the doctor or worrying about your ovaries or whatever. So, I don’t want to make it sound like oh we’re just hoping for mutations because that’s certainly not the case.

But yeah, if someone does have a gene mutation, and it does increase their risk; then their doctor knows okay we need to do more screening potentially even maybe removing the ovaries because maybe the ovaries are at risk for cancer and preventing ovarian cancer which is a cancer that’s sometimes difficult to detect until it’s pretty far advanced; can certainly make a huge difference in someone’s life. Maybe there’s medications they can take to decrease their risks or maybe that motivates them to have a better diet and finally quit smoking and exercise and decrease alcohol. And so, there are different recommendations that can be personalized for people depending on their results whether they are positive or negative.

Host:  You know just to wrap up here, is there anything that we didn’t cover about genetic testing or genetic counseling that you would like to convey to our audience?

Amanda:  Yes. Actually what I really want people to take away from this is that your genes are not your destiny. Just because you have a variation or a mutation in a gene that increases your chance for a particular problem like cancer or even heart disease or something; it doesn’t necessarily mean you are going to get that condition. So, we don’t inherit cancer. We inherit risks for cancer. So, there are things you can do and that’s the beauty of having information because we know that if you lose weight, if you are overweight or if you quit smoking, if you focus on stress management, better sleep, things like that; you can decrease your chances of developing a condition that you might be at higher risk for than someone else. So, but you can have a little power with that knowledge. And I think that’s really important. Again, your genes are not your destiny.

Host:  Yeah, that’s a great place to end and I definitely heard you cannot manage what you do not measure and so being informed is very important. So, Amanda, I truly appreciate your time today. that’s Amanda Nascimento, a Genetic Counselor in the Cancer Center at Harrington Hospital. Thanks for checking out this episode of Healthy Takeout. Call 508-764-2400 or visit www.harringtonhospital.org for more information. 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. Thanks and we’ll talk next time.