Transcription:
When Should You Consider Genetic Counseling?

Bill Klaproth (Host): What is genetic counseling and how can it help you identify potential risks when it comes to cancer? Here to talk about genetic counseling is Nicolette McDonnell, an Advanced Practice Registered Nurse at Southern New Hampshire Health. Nicolette, thank you for your time. So let's start here; what is genetic counseling?

Nicolette McDonnell, APRN (Guest): Sure. So a lot of people, when you say the term 'counseling,' think, "Am I meeting with a therapist to talk about different diseases?" And not exactly. So we know that with certain disease processes, whether it's breast cancer, ovarian cancer, colon cancer; those diseases can occur by chance or what we say is in the medical field to be sporadic. However, sometimes when we look at a patient's specific disease process or the family history, we start to think maybe there's more of a genetic component or a change in this individual's DNA that is actually putting them at risk for different types of cancers.

So in our clinic, if we see somebody like that, we would refer that patient to a genetic counselor where they would sit down and meet with this person either in person, or kind of like a Skype consultation, or over the phone, and basically the genetic counselor would gather a lot of family history information and talk to that patient about what specific genes they could be tested for to see if they do in fact carry a change in their DNA that would put them at increased risk for different types of cancers.

Bill: So basically identifying those who may be at risk for a genetic mutation. Nicolette, let me ask you this, how would someone know that they may be at a higher risk for a genetic mutation?

Nicolette: So there's what we call red flags, and like I said, because I work very closely with the breast surgeons, that's sort of where my mindset goes. So people should really start to think, "Am I at increased risk for a mutation in my DNA when there's been a really early onset cancer?"

So for example, if somebody was diagnosed with a breast cancer in their thirties, or there's multiple of the same types of cancers on the same side of the family, any male relative with breast cancer. You know, so in the field there's certain red flags that kind of go off in our mind when we see that, and then you would appropriately send them to genetics.

But sort of the rule of thumb is if a patient or a primary healthcare doctor or whoever has even a suspicion, or just is really wondering, "Would I benefit from meeting with a genetic counselor?" The answer is probably yes.

Bill: So that is your main role then when people are referred to you, is that right? So is that your main role in evaluating breast cancer risk in patients?

Nicolette: It's a big, big component of what I do. So my job is to essentially support the breast surgeons at Southern New Hampshire, so I work on the surgical side of things, but a big piece of that is- yes, doing a breast cancer risk evaluation. So a bunch of the patients that I see are sent to me from either their PCP, or gynecologist, and we do a formal what we call risk assessment to see A) would this person benefit from meeting with a genetic counselor? And if so, I of course make the appropriate referral and send them on their way there. We talk about other things like increase in early breast cancer screening with mammograms, and breast MRIs, and clinical exams. And also there's something called chemoprevention, which a lot of people don't know that you can actually take medication to help reduce the risk of breast cancer, and so I would refer those patients to a medical oncologist.

So my role, I kind of consider myself the hub in terms of identifying what these patients might benefit from, make appropriate referrals, and we go from there.

Bill: So why is it important for patients to meet with a genetic counselor prior to undergoing any testing?

Nicolette: Yeah, you know, I think there's a lot of reasons, and I think a lot of people now are understanding that there's a whole lot of availability for patients to get 'over-the-counter' genetic tests. You know, so you can go and just purchase a genetic test kit and test yourself at home without really being counseled on what you're being tested for.

And I caution people in doing that because what they're not getting if they don't meet with a genetic counselor is A) do they know what they're testing themselves for? You know, do they know what genes they're looking at? Do they know the risk profile associated with each of these genes? And that's something that you're going to get when meeting with a genetic counselor.

But then also, there's a lot of other things that I don't think people necessarily consider when they want to undergo genetic testing. So things like ethical implications, family stresses, because a lot of- since it's genetics, of course if a patient tests positive for one of these changes, that's going to have a lot of implications for family members and may add to family stress.

Things like obtaining life insurance policies. You know, so there's all of these ancillary sort of issues that if a patient just tries to undergo testing on their own with one of these kits that they can just purchase whether it's on Amazon or whatever, they're really making a decision with somewhat lacking information. So I would caution patients or people against doing that just because I do think meeting with a genetic counselor really addresses all of those very important issues.

Bill: So best to let the professional handle it. And how might the results of genetic testing impact the patient's plan of care moving forward?

Nicolette: Yeah so you know, in my world, again very specific to breast cancer treatment, in patients who are newly diagnosed with breast cancer and undergo genetic testing, if in fact they do test positive for one of these higher risk mutations, it can impact the type of surgery they elect to have. So you know, that might be the difference between a simple lumpectomy, which is essentially just removing the cancerous tumor, versus deciding to do a double mastectomy, which is removing both breasts because of the virus mutation and the risk for developing a future breast cancer.

There's also available clinical trials, specifically down in Boston in MGH which is our affiliate, where if somebody tests positive for this mutation, they may be eligible to be enrolled in clinical trials. So it certainly impacts them from both a medical management standpoint and also a surgical management standpoint.

Bill: And speaking of MGH, can you tell us about the Mass General Hospital program offered at Southern New Hampshire Health?

Nicolette: Yeah, so we're very, very fortunate that we have Mass General genetic counselors come up to Nashua to see our patients, and the program has expanded pretty extensively in the last couple of years. So I came on board in 2013 and at that time the genetic counselor was coming up once per month to meet with our patients, but we were really starting to identify more and more patients that meet criteria for testing and really should be evaluated, and so we identified a greater need to increase access for these patients.

So Mass General was wonderful and worked with us to develop what's called our Telegenetics Program. So they'll still come up in person once per month to meet with our patients, but then the other three times during the month, it's actually like a Skype conversation, or FaceTime I guess.

So the patient will come into the office, they have a consultation sort of over the computer and meet face-to-face with the genetic counselor who's stationed down in Boston, and at the end of the visit if they decide that they want to pursue testing, they sign the consent and have their blood drawn right there. So we are really proud of the fact that we are able to work with MGH to increase access so that our patients really don't have any wait time to be seen.

Bill: So is the process of getting tested- you just mentioned having blood drawn. Is it a blood test then that the patient would go through?

Nicolette: Yes, the majority of the time if a patient wants to have pretty extensive testing, so looking at more than one gene, yes. Most oftentimes it's a blood test. There are sometimes swabs where they can just take a swab of the cheek cells in a patient's mouth and send that off for testing, but the majority of the time it's just a simple blood test, yes.

Bill: And lastly, Nicolette, what else should we know about genetic testing?

Nicolette: Yeah, I mean I think the big thing is that I think there's a misconception about if a patient tests positive for a mutation that we don't have anything that we can do about it, and that's I think the big thing that I try to relay to my patients, is that if you have a suspicion that you may have a genetic component, or something in your DNA that's putting you at risk, and we find out about it, we have things that we can do to help you. We can increase your screenings, we have preventative surgeries, we have medical management. So it's not just you test positive, sit and wait around until you get cancer. No, no that's not the idea. We have things, actionable things that we can do. So if there's a question, if a patient is concerned or wants to learn more about it, they should certainly speak with their PCP or gynecologist and request a referral to meet with a genetic counselor.

Bill: Well that makes sense, and thank you so much for the great information today, Nicolette. We appreciate it. For more information about genetic testing, please visit www.SNHHealth.org. That's www.SNHHealth.org. This is Simply Healthy, a podcast by Southern New Hampshire Health. I'm Bill Klaproth, thanks for listening.