Selected Podcast
Genetic Counseling
Hereditary genetic mutation increases one's risk for certain kinds of cancer. Margaret Emmett, genetic counselor, discusses how genetic counseling works.
Featured Speaker:
Margaret M. Emmet, MS-Genetic Counselor, Southern New Hampshire Health
Margaret Emmet graduated from Boston University with a Master’s degree in Genetic Counseling. She earned her Bachelor of Science degree in Biology from Villanova University and worked as an assistant in a family medical practice before beginning graduate school. Transcription:
Bill Klaproth (Host): Some cancers run in families, so are you at risk of a genetic disorder and how would you know? Well you’re going to find out. Here to talk with us about genetic counseling is Margaret Emmet a genetic counseling at Massachusetts General Hospital and Southern New Hampshire Health. Margaret, thank you for your time today. First off, what is genetic counseling?
Margaret Emmet (Guest): Sure, so genetic counseling is a process where families can learn more about what genetic risks they may have, explore genetic testing options that might be right for them and work with their genetic counselor and their other provider physicians to act on those genetic testing results.
Host: So Margaret, what are some of the cancers we may inherit from our parents?
Margaret: Yeah, good question. So actually most cancers aren’t caused by anything hereditary, which I think is really important to emphasize. We think that about 5% to 10% of all cancers are caused by hereditary gene mutations that are being passed down in families. Some of the cancers that we more strongly associate with genetic causes would be breast cancer and ovarian cancer, colon cancer, pancreatic cancer, just to name a few.
Host: So having an abnormal gene doesn’t mean that person is going to get that type of cancer, but is that higher risk, is that right?
Margaret: So that’s true. So when we talk about cancer risk genes, what we’re really talking about are a group of genes that all of us have and they’re important to have because part of their normal function is to actually help prevent cancers from forming. It’s when somebody has a nonworking copy of one of these genes. As you see an abnormal gene, or we sometimes call it a gene mutation, that’s when they would be a higher risk to develop cancer because they don’t have that protective function.
Host: So knowing we have a higher risk because of genetic counseling, how can we help prevent that type of cancer from occurring?
Margaret: Yeah, great question. At this point in time at least, we don’t have the ability to fix genes if someone does have a gene mutation if their genes aren’t working properly. So what we have to offer is options for prevention and screening and exactly what those options look like kind of depends on which gene we’re talking about. So for breast cancer risk genes, sometimes we’re talking about increased screening like adding a breast MRI to the regular annual mammogram. For colon cancer, it might mean more frequent colonoscopies, all meant to kind of address the increased risk for cancer that we’ve learned about from genetic testing.
Host: And is there a way to turn that bad gene off with proper lifestyle habits as well?
Margaret: So I wouldn’t say we can turn our genes on and off necessarily through lifestyle, but we know that lifestyle also contributes to someone’s overall risk for cancer. So paying attention to lifestyle risk factors is even more important when we know there’s a genetic risk.
Host: Okay, got it. So let’s talk about the actual counseling itself. What should someone expect at a genetic counseling?
Margaret: At a genetic counseling appointment, one of our first goals of a session would be to take a detailed personal and family history. So we are looking at who’s in the family, who’s had cancer, who hasn’t, everyone’s ages, and age of onset if they have had a disease, and that helps us to start to get a picture of what risk factors there might be for an inherited cancer in the family. So we’re looking for things like having multiple family members with cancer, especially if we’re seeing unusually young ages of diagnoses. Some of those rare cancers, like pancreatic and ovarian cancers we’re looking out for, and then anyone in the family who’s had more than one cancer over their lifetime. Once we have a detailed family history, we’re going to be talking about genetic testing if that is an appropriate option, trying to figure out who’s the best person to test in the family to test if anyone and really part of my job is to answer any questions about the risk assessment process or the genetic testing process that my patients have.
Host: So for someone who has cancer in their family, should they consider genetic counseling?
Margaret: I definitely think it’s something to consider, especially if there are some of those red flags that I mentioned. A good place to start is often talking to the primary care provider to see if genetic testing is likely indicated.
Host: So besides identifying your risk of developing cancer based on your personal and family history, what other functions does a genetic counselor provide?
Margaret: So a really important part of my job is to help families adapt to the information that they’re receiving from genetic testing. So that is not only talking about prevention and screening options, but also looking out at the greater family and seeing who else in the family might benefit from genetic testing. In some families where we have actually identified a hereditary cancer syndrome or one of these gene mutations, we’re then looking to see who else in the family should be tested for that. So who would be at risk and who is not. In families where we haven’t identified a cause of the cancer, sometimes we’re just needing to test more people, and perhaps the person we started with didn’t inherit whatever was going on in that family.
Host: So for someone who tests positive for a genetic disorder, how do you counsel them? I’m sure they have fears, oh my gosh, I’ve got the gene for breast cancer. How do you counsel that individual?
Margaret: Yeah, good question. So it’s totally normal to have a range of emotional reactions to getting that kind of information, so some of the resources that we have available are not only talking to genetic counselors but also talking with other people who have been tested and kind of lived through that same thing. There are some great support groups and other resources out there whether that’s online or in person that will connect our patients with, and I think that what we’ve seen over time is generally people tend to do really well. Sometimes there is kind of a spike in feelings of anxiety or worry about cancer, but that over time people really tend to go back to baseline in terms of kind of their feelings of genetic testing and their risk.
Host: So do you refer people then for monitoring treatment and follow up care as well?
Margaret: Definitely, so as a genetic counselor, my job is not to prescribe certain screening protocols or anything like that, although the information that I’m providing for genetic testing can be really useful for that purpose, but really I’m connecting people with the appropriate specialist, whether that’s a medical oncologist or a surgeon who might be able to help them with management given their genetic test results.
Host: I’ve got an insurance question. How could genetic testing impact someone’s ability to keep or obtain life insurance or health insurance? The more we know is good on one hand, but on the other hand might not be so good, so how do you handle a situation like that?
Margaret: Yeah, great question. So I have some good news and some bad news here. We do have a federal law called the Genetic Information Nondiscrimination Act or we call it GINA for short. That is a law that’s intended to offer protection for health insurance and employment against this idea of genetic discrimination or the possibility that the test results could be used against you in some way. So we don’t have as much worry in those areas, health insurance and employment. Unfortunately that law doesn’t do anything for life insurance, long term care insurance, or long term disability, so those are things that our patients may want to consider actually before they go ahead with genetic testing.
Host: Yeah, interesting information to know and to think about. So how can someone make a genetic counseling appointment?
Margaret: So appointments with the cancer genetic counselors at Southern New Hampshire can be made by calling Foundation Hematology/Oncology. I have the phone number. It is 603-886-7900.
Host: And if you could wrap it up for us Margaret, is there anything else we should know about, genetic counseling?
Margaret: So especially at this time of year, I always like to remind people it’s really important to talk with family about what conditions, cancers and other things could be in the family, you know who has had what because all the risk assessment and kind of the benefits that I talked about really come from that information.
Host: Margaret, this has been very informative and interesting. Thank you so much for your time and talking with us about genetic counseling. For more information or to book an appointment, just call 603-886-7900, 603-886-7900. You can also visit, snhhealth.org, that’s snhhealth.org. This is Simply Healthy, a podcase by Southern New Hampshire Health. I’m Bill Klaproth, thanks for listening.
Bill Klaproth (Host): Some cancers run in families, so are you at risk of a genetic disorder and how would you know? Well you’re going to find out. Here to talk with us about genetic counseling is Margaret Emmet a genetic counseling at Massachusetts General Hospital and Southern New Hampshire Health. Margaret, thank you for your time today. First off, what is genetic counseling?
Margaret Emmet (Guest): Sure, so genetic counseling is a process where families can learn more about what genetic risks they may have, explore genetic testing options that might be right for them and work with their genetic counselor and their other provider physicians to act on those genetic testing results.
Host: So Margaret, what are some of the cancers we may inherit from our parents?
Margaret: Yeah, good question. So actually most cancers aren’t caused by anything hereditary, which I think is really important to emphasize. We think that about 5% to 10% of all cancers are caused by hereditary gene mutations that are being passed down in families. Some of the cancers that we more strongly associate with genetic causes would be breast cancer and ovarian cancer, colon cancer, pancreatic cancer, just to name a few.
Host: So having an abnormal gene doesn’t mean that person is going to get that type of cancer, but is that higher risk, is that right?
Margaret: So that’s true. So when we talk about cancer risk genes, what we’re really talking about are a group of genes that all of us have and they’re important to have because part of their normal function is to actually help prevent cancers from forming. It’s when somebody has a nonworking copy of one of these genes. As you see an abnormal gene, or we sometimes call it a gene mutation, that’s when they would be a higher risk to develop cancer because they don’t have that protective function.
Host: So knowing we have a higher risk because of genetic counseling, how can we help prevent that type of cancer from occurring?
Margaret: Yeah, great question. At this point in time at least, we don’t have the ability to fix genes if someone does have a gene mutation if their genes aren’t working properly. So what we have to offer is options for prevention and screening and exactly what those options look like kind of depends on which gene we’re talking about. So for breast cancer risk genes, sometimes we’re talking about increased screening like adding a breast MRI to the regular annual mammogram. For colon cancer, it might mean more frequent colonoscopies, all meant to kind of address the increased risk for cancer that we’ve learned about from genetic testing.
Host: And is there a way to turn that bad gene off with proper lifestyle habits as well?
Margaret: So I wouldn’t say we can turn our genes on and off necessarily through lifestyle, but we know that lifestyle also contributes to someone’s overall risk for cancer. So paying attention to lifestyle risk factors is even more important when we know there’s a genetic risk.
Host: Okay, got it. So let’s talk about the actual counseling itself. What should someone expect at a genetic counseling?
Margaret: At a genetic counseling appointment, one of our first goals of a session would be to take a detailed personal and family history. So we are looking at who’s in the family, who’s had cancer, who hasn’t, everyone’s ages, and age of onset if they have had a disease, and that helps us to start to get a picture of what risk factors there might be for an inherited cancer in the family. So we’re looking for things like having multiple family members with cancer, especially if we’re seeing unusually young ages of diagnoses. Some of those rare cancers, like pancreatic and ovarian cancers we’re looking out for, and then anyone in the family who’s had more than one cancer over their lifetime. Once we have a detailed family history, we’re going to be talking about genetic testing if that is an appropriate option, trying to figure out who’s the best person to test in the family to test if anyone and really part of my job is to answer any questions about the risk assessment process or the genetic testing process that my patients have.
Host: So for someone who has cancer in their family, should they consider genetic counseling?
Margaret: I definitely think it’s something to consider, especially if there are some of those red flags that I mentioned. A good place to start is often talking to the primary care provider to see if genetic testing is likely indicated.
Host: So besides identifying your risk of developing cancer based on your personal and family history, what other functions does a genetic counselor provide?
Margaret: So a really important part of my job is to help families adapt to the information that they’re receiving from genetic testing. So that is not only talking about prevention and screening options, but also looking out at the greater family and seeing who else in the family might benefit from genetic testing. In some families where we have actually identified a hereditary cancer syndrome or one of these gene mutations, we’re then looking to see who else in the family should be tested for that. So who would be at risk and who is not. In families where we haven’t identified a cause of the cancer, sometimes we’re just needing to test more people, and perhaps the person we started with didn’t inherit whatever was going on in that family.
Host: So for someone who tests positive for a genetic disorder, how do you counsel them? I’m sure they have fears, oh my gosh, I’ve got the gene for breast cancer. How do you counsel that individual?
Margaret: Yeah, good question. So it’s totally normal to have a range of emotional reactions to getting that kind of information, so some of the resources that we have available are not only talking to genetic counselors but also talking with other people who have been tested and kind of lived through that same thing. There are some great support groups and other resources out there whether that’s online or in person that will connect our patients with, and I think that what we’ve seen over time is generally people tend to do really well. Sometimes there is kind of a spike in feelings of anxiety or worry about cancer, but that over time people really tend to go back to baseline in terms of kind of their feelings of genetic testing and their risk.
Host: So do you refer people then for monitoring treatment and follow up care as well?
Margaret: Definitely, so as a genetic counselor, my job is not to prescribe certain screening protocols or anything like that, although the information that I’m providing for genetic testing can be really useful for that purpose, but really I’m connecting people with the appropriate specialist, whether that’s a medical oncologist or a surgeon who might be able to help them with management given their genetic test results.
Host: I’ve got an insurance question. How could genetic testing impact someone’s ability to keep or obtain life insurance or health insurance? The more we know is good on one hand, but on the other hand might not be so good, so how do you handle a situation like that?
Margaret: Yeah, great question. So I have some good news and some bad news here. We do have a federal law called the Genetic Information Nondiscrimination Act or we call it GINA for short. That is a law that’s intended to offer protection for health insurance and employment against this idea of genetic discrimination or the possibility that the test results could be used against you in some way. So we don’t have as much worry in those areas, health insurance and employment. Unfortunately that law doesn’t do anything for life insurance, long term care insurance, or long term disability, so those are things that our patients may want to consider actually before they go ahead with genetic testing.
Host: Yeah, interesting information to know and to think about. So how can someone make a genetic counseling appointment?
Margaret: So appointments with the cancer genetic counselors at Southern New Hampshire can be made by calling Foundation Hematology/Oncology. I have the phone number. It is 603-886-7900.
Host: And if you could wrap it up for us Margaret, is there anything else we should know about, genetic counseling?
Margaret: So especially at this time of year, I always like to remind people it’s really important to talk with family about what conditions, cancers and other things could be in the family, you know who has had what because all the risk assessment and kind of the benefits that I talked about really come from that information.
Host: Margaret, this has been very informative and interesting. Thank you so much for your time and talking with us about genetic counseling. For more information or to book an appointment, just call 603-886-7900, 603-886-7900. You can also visit, snhhealth.org, that’s snhhealth.org. This is Simply Healthy, a podcase by Southern New Hampshire Health. I’m Bill Klaproth, thanks for listening.