Certified Genetic Counselor at Mass. General Cancer Center, Kristin Shannon, MS talks about a life-saving decision that changed one family’s life.
Interview conducted by Ivanhoe Broadcast News in 2022.
What is a genetic counselor and why is it important, especially in a medical setting?
SHANNON: Genetic counselors are master’s trained health care professionals. We specifically work with patients and families and work with them to help them understand the importance of family history and genetics and genetic testing. We help educate them with regard to their choices regarding genetic testing.
Why is it important to have a trained professional walking you through some of these decisions?
SHANNON: Genetic testing can be quite complex. And there are many variations of genetic testing that’s available. It’s really important to have someone that has specialized training in human genetics and in genetic counseling to help them translate that information and make it applicable to them as an individual.
Specifically with cancer, we’ve heard about the BRCA the 1&2 gene for the last probably decade, decade and a half. Consumers have really heard about it. But I don’t know. Is there other testing for other cancers, that have a genetic component? And can you run through some of cancers that really have the genetic ability?
SHANNON: Sure. So yes, there are a wide variety of genetic tests that we can run. BRCA 1 and 2 are by far and away, probably the most popular two genes that we have heard of. They were initially only really associated with breast and ovarian cancer. Genetic testing in about 2015 changed dramatically. And more and more genetic testing labs became available so that we can order these genetic tests from these additional labs. They added additional genes onto what we call gene panels. And so in addition to BRCA1 and BRCA2, we can test for up to 80 different genes that are associated with cancer.
What kinds of cancers?
SHANNON: Most of the cancers are common cancers, breast cancer, ovary cancer, colon cancer. But there are also things like thyroid cancer, brain tumors, melanoma, almost all solid tumors that are in existence or solid cancers there’s a genetic test for, I think the one big exception to that would be lung cancer. Most lung cancers are not genetic or inherited. Most of them are due to environmental exposures. So for those types of cancer, we don’t often do a lot of genetic testing. But for almost all other types of cancer, there’s a gene that’s associated with it.
Why is it important for families to have that good information?
SHANNON: Genetic testing can be really helpful for individuals because we can help strategically manage their cancer risk. So for example if we know that an individual has a significantly higher risk of developing colon cancer in their lifetime we would nurture them much more frequently with colonoscopies in the hope that we can remove those polyps or those precancerous lesions so that that person does not get cancer. The other thing genetic testing can do is it can really help family members and make choices about their medical decisions. So if there’s an individual in a family that does have one of these genes, they have a 50 percent.
Can you tell me about the risk for other family members if you have somebody who has one of these genetic cancers?
SHANNON: Yes. So if someone has one of these genetic cancers, or genetic cancer predisposition gene, their first-degree relatives, so their children and their brothers and sisters each have a 50 percent chance of having that same gene. For those people in the family that do have that gene, we do have early detection. We try and find cancer as much more early in their stage when they’re cancers are the highest. But also half of that person’s relatives on average will not have this gene and we would consider them to be at average risk for developing cancer. So the worry and the stress of being from a cancer families really can be lifted from them.
I want to talk about taking the extra steps that the preventative measures of course with BRCA hear about people having radical mastectomy? About having their ovaries removed or hysterectomy. Just because the risk is so high, they don’t want to go through it. Can you speak to that a little bit? Is that an option? Is that an extreme option or some families? Is that really the best way to go?
SHANNON: I think each individual hears the risks differently. And so with each gene that we can test for, there are specific risks associated with it. Some of these genes can give a person a really high risk of getting cancer like over 80 or 90 percent. For those people, that’s really high risk. And they might not want to just sit and go in for many more aggressive breast cancer screening, MRIs, mammograms on a much more routine basis. They just might not want to take that chance. And so for those people it’s a right fit to have the breasts removed. There are other genes, however, that don’t give that significant of a risk. So there is a gene for example called CHEK2 that gives a woman about a twofold lifetime risk of cancer. And that seems a little bit more manageable for people to contain and much more reasonable to monitor a more aggressively.
Are you able to speak at all to the Lamberts because they had the rare stomach cancer? Can you tell us a little bit about them?
SHANNON: The gene that’s in the liver family is a CDH1 mutation. And that gene puts individuals at risk for diffuse gastric cancer, which is this very specific and often very aggressive and severe type of gastric cancer or stomach cancer. And women with a CDH1 mutation also have an increased risk of breast cancer. So for families that have CDH1 mutations, they usually experience this family history of lots of people in the family that have stomach cancer, breast cancer, and it’s just this looming thing over them. And so when genetic testing becomes available for these families and a mutation is identified, it can do a lot of things. Some families react with, Oh, thank goodness, there is a reason and there’s an explanation for why this is happening in my family. And they feel really armed and powerful with that information. Genetic testing in those families can be quite emotionally difficult because you’re testing families and in a sibship of two, one may have it, one may not. That sets off a quite an interesting dynamic with those two individuals. But I think for most people with CDH1 mutations, they know that the lifetime risk of developing cancer, stomach cancer specifically is so high. And they’ve seen members of their families get that disease and die of that disease and they do not want that to happen to them if they have this gene. So for most people, I think they do make the decision to have their stomachs removed.
What was your role in terms of helping them with understanding information and support during the process, can you speak a little bit about how a genetic counselor would be of value during a family’s decision-making?
SHANNON: I will be honest, I was not the genetic counselor with this family. This was a very good friend of mine though, one of our staff. But a genetic counselor in these families can help them make decisions first about when is the right time for a person to have the genetic test. Do you want to know this information when you’re 15, 18, 20, 25? And so for a lot of genetic counselors that get involved in these families, this is a very longitudinal process. They meet the patient at first and then they stay with that family over the course of their life. They can help make decisions about when to test. What test to order, which is a very important and salient point when it comes to genetic counseling and genetic testing. And also follow them long term. There is- for example, there’s a phenomenon called survivor guilt. So in families that have these really penetrate or very strong genes, those people in the family that do not carry the gene often feel guilty because the rest of their families do. And they- we term that survivor guilt. And so the genetic counselor can work with those individuals as well as those people that do have the gene mutation to try and help the family cope and get through this stressful time with genetics.
With the explosion, you’ve mentioned in 2015 all of these tests and so many things now, so much more information that people are armed with. Are there enough of you to go around?
SHANNON: That is a great question. That’s a really good question. So there are many genetic counselors. There are many programs of genetic counseling schools and the training programs are trying to scale up to meet the need. I think in the media, there’s a lot of time, a lot of press about from USA today, for example, this is genetic counseling is the field of the future. And we recognize that we are really important to the healthcare system. Right now can we see everybody that needs us? Probably not, but we just need a little bit of time. The genetic counseling programs are now enrolling people. We have three genetic counseling programs in Boston at this time. There’s four in the state of Massachusetts alone, and three are right in Boston, ones out in Western Mass. We’re scaling up. We’re getting more and more students into those programs, trained and out into the field to help meet the need of people that need genetic testing and genetic counseling.
When do you recommend people start to look for a genetic counselor if they’re not at a place where it’s offered to them? How do you know if they need genetic counseling?
SHANNON: I think anyone that has a family history of any disease should talk to their primary care physician about a referral to a genetic counselor. Genetic counselors are- we’re very adaptable and we have changed our practice quite significantly. We- there are genetic counseling companies that offer virtual or in-home telegenetic counseling for people, especially in rural areas that don’t have access to large academic medical centers. Even the larger academic medical centers like Mass General, we have intelligent ethics programs to reach people that don’t have the access to genetics to come into the hospital and don’t have the time to come in. I would suggest that anyone that has an interest in genetic counseling go to the National Society of Genetic Counselors website. It’s nsgc.org. And there’s a find a genetic counselor feature on that website so you can put in your zip code and specify whether you want to be seen in person or if it’s okay for you to be seen remotely. And you’ll get a laundry list of genetic counselors that are available to you.
Can you explain what the Lamberts had to do to eliminate their cancer risk?
SHANNON: For people that have CDH1 mutations and the specific risk is again for hereditary diffuse gastric cancer. So the gastric cancer in those families grows along the inside of the stomach. So it’s not like you can go in and just take a chunk of the stomach out. For families with CDH1 mutations, you do need to remove the entire stomach. For most procedures, if it’s done at a city or a hospital that is well versed in this and has a surgeon with a lot of practice, they actually- the surgeon can create a pouch from the small intestine and create a pouch to help serve as a reservoir for digestion and nutrients. But for the most part, they take out the entire stomach. Those individuals are on life-long change of dietary habits. They have to go on supplements. They can only eat small meals. They are usually followed for their entire life as part of the gastric cancer program.
It’s still life-saving potentially?.
SHANNON: Absolutely. I think the risks in families like the Lamberts is so high that they would rather deal with the, I think that they would call it an inconvenience of having to deal with supplements and changing their dietary habits rather than dealing with a diagnosis or diffuse gastric cancer and potentially death.
Is there anything else you would want people to know?
SHANNON: I think it’s really just important for people to know their family history, as well as they, can now, not everybody does. Families, especially in the United States, live all over the place. And there can be difficulties in communications for a variety of reasons. But if you know your family history, it really can be helpful when you go to a genetic counselor or when you talk to your doctor about getting a referral to a genetic counselor. So I think that’s one of my biggest takeaway points is when you’re sitting around the table at Thanksgiving or around the holidays, start asking questions about health history.
END OF INTERVIEW
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