Selected Podcast

Genetic Counseling: Know the Facts to Help Your Family

Annie Nyberg, MS explains what genetic counseling is, why you might consider speaking with a genetic counselor and what to expect at your first appointment.
Genetic Counseling: Know the Facts to Help Your Family
Featured Speaker:
Annie Nyberg, MS
Annie Nyberg, MS received a BS in Genetics with a minor in Psychology from the University of New Hampshire, and an MS in Medical and Molecular Genetics from the Indiana University Genetic Counseling Program. Annie has experience working with multiple specialty clinics, the Genetic Alliance and has been actively involved in a variety of research projects during her graduate training. At Boston Medical Center, Annie is a clinical genetic counselor in the Department of Pediatrics and Cancer Care Center, and is also involved in lab stewardship initiatives with the Department of Pathology.
Transcription:

Melanie Cole (Host):  If you or one of one your close relatives has been diagnosed with any type of cancer, you may have concerns about whether that type of cancer runs in the family.  My guest today is Annie Nyberg.  She’s a licensed, certified genetic counselor with Boston Medical Center.  Annie, I’m so glad to have you with us.  So many people have many questions about genetics today and genetic counseling.  First, tell us what is a genetic counselor? 

Annie Nyberg, MS (Guest):  A genetic counselor is a medical professional who can help individuals understand how their personal but also family history can cause either specific types of conditions like cancer or heart problems, but also how to be proactive about it so we can identify who might be at risk, what medical preventions can we do to either catch something like cancer at a young age or what we might be able to do that might be preventative such as medication. 

Host:  Not all cancers are hereditary, right?  Some are lifestyle.  Some are just rare and crop up for nor reason.  Is that true?

Annie:  Exactly.  About 5 to 10% of cancers are hereditary, meaning that there’s a genetic predisposition that eventually could lead someone to developing that cancer.  We think of those primarily being earlier-onset cancers like breast cancer or colon cancer or very, very rare cancers like ovarian cancer or pancreatic cancer.  While most cancers—about 8o% of cancers—are sporadic, meaning just like you said—they happen by chance. Maybe they happened from an environmental exposure like skin cancer being caused by too much sun exposure or lung cancer being caused by smoking. 

Host:  So then, why might someone be referred for genetics counseling?  Tell us a little bit about—you mentioned a few little risk factors, but as an Ashkenazi Jew myself, I know that I would like to one day—I haven’t quite gotten myself to do it yet, but I’d like to go get tested, you know, for the BRCA gene.  Explain a little bit about how that inherited trait plays a role in developing cancer—just a little brief lesson on gene mutation and what that means. 

Annie:  So, I think of our genes as being recipes for how our body develops, and if you think of the BRCA genes, the BRCA-1 or BRCA-2 genes as being an important gene for actually preventing cancer in our body, and if you think of that gene being a recipe preventing cancer in your body—if it’s spelled differently, it actually might not work properly and therefore might put you at a higher risk to develop cancer.  So, if we can take your blood and we can spell out those important genes that are helping your body prevent cancer and we can find a spelling change and say, “Hey, you have this predisposition to XYZ cancer.  We now can figure out how to be proactive for your future.”  So, for example, maybe doing earlier mammograms, maybe offsetting mammograms with MRIs.  Maybe even doing a prophylactic surgery like a mastectomy.

Host:  That was a great explanation, Annie.  So, tell us a little about what someone can expect during a genetics counseling visit.  What kinds of tests are available?  What do you say to them?

 

Annie:  We typically spend about 60 minutes in our appointments briefly discussing an individual’s personal history information such as when someone goes through puberty, or has children, the number of pregnancies.  Things like that in their medical history is important to collect to understanding risks for cancer, specifically like breast cancer, but then we also move into family history to find out who might have had cancer in the family, at what age they were diagnosed, what type of cancer there was, but also as you previously mentioned, what someone’s ethnicity is.  

So, there are some ethnicities where there are what we call founder mutations, meaning a mutation or spelling change that’s more prevalent in one individual’s ethnicity or country of origin than others, just like someone with an Ashkenazi Jewish ancestry might have a higher risk to carry a BRCA mutation than someone that has a different ethnicity.  Once we determine the factors, both your personal history and your family history, we can talk about—what do we think is the best decision for testing for you?  We consider if insurance will cover testing.  If insurance won’t cover testing, what are the risks and benefits of doing testing at that point, and then if insurance would cover testing, really what’s the motivation behind someone doing testing and what kind of testing would they want?  Do they want targeted testing based on the cancers present in their personal or family history, or would we want to expand it to really looking at more genes that have to do with any type of cancer, and those are very, very personal choices, which is why our appointments usually take a while because we want to make sure that we’re not only providing appropriate risk assessments for individuals, but making sure their decisions are personalized and will be able to help an individual be proactive about their future based on how they adapt to information like that.

Host:  Really is an amazing time in genetics, Annie.  I’m just amazed by all of this.  So, before we talk about what you do with that information, there are some genetic tests on the market—people don’t have to see a counselor.  They order them through the mail.  Why shouldn’t we be using those? 

Annie:  I think if individuals want to use it for their own curiosity, that’s wonderful.  They are welcome to do that, but those tests are not clinically actionable in the sense that they should be used for medical management.  So, if you are identified to have something, for example like a BRCA-1 or 2 variant, it’s really recommended to then see a medical specialist like us to then follow up to make sure that this a true result and that we can make clinical recommendations based on that result.  Another thing to consider is, as I kind of previously mentioned, thinking of a gene as being a recipe, there’s lots and lots of letters in our genes, just like there are for a chocolate chip cookie recipe, and with these consumer tests that you can just buy online, they’re actually only looking at a couple of letters or spelling changes in the gene.  They’re not looking at every single letter.  So, that is another difference between the testing that’s a direct to consumer where maybe you’ll only find out about three different spelling changes that are common in those genes versus the testing we offer is hundreds and hundreds and hundreds of letters and lots and lots of different genes.

Host:  So important, and I’m so glad that you made that point because, you know, it’s not only getting something in the mail, Annie, but it’s also talking to someone like you—trying to figure out now.  So, as we talk about the practical aspects of genetic testing, all of these things you’ve mentioned, there’s also other things—fertility preservation and life-altering decisions.  What do we do with this information and how do you help us figure that out if we find out that we have one of these gene mutations?

Annie:  That’s a good question.  I think it’s really a case-by-case scenario to really address that.  For all of my patients, the first thing I want to address when I get a result back is what to do about their future.  Most of the time, individuals come in because either they have a personal history of cancer or their family has cancer, and they want to know how can they help themselves.  So, usually address how can we be proactive for that individual, but then the next thing that they think about is how is this going to affect my mom, my dad, my brother, my sister, my children, and at that point, it’s very important to discuss, “Well, who can we test?”  Why, for example, would we want to test someone younger than the age of 18 for cancer predispositions?  Almost never.  We almost always only have adult-onset conditions like that tested over the age of 18, but also if someone maybe wants to have children, but maybe they have a risk, for say, example ovarian cancer, when would be the best time to decide to have their ovaries removed?  Would it be important for them to have some type of fertility treatment just to really preserve their eggs if they do need to have some type of early prophylactic surgery.  So, these are very sensitive topics that need to be addressed, which is oftentimes why we have our patients come back so we can address all of these different subjects in a time-sensitive manner, but also being able to have the patient come back and answer questions that maybe they have thought about that we hadn’t been able to address.

Host:  So important, and we’re really using that information to make informed decisions, right?  So, one of the questions before we wrap up that people have is insurance discrimination.  If you’re going to get genetic testing, and you find out you have an inherited trait, what then?  Does everybody know about this?  Is there any privacy?  Tell us a little bit about that.

Annie:  We talk with all patients that are unaffected about a law called The Genetic Information Nondiscrimination Act.  It’s oftentimes referred to as GINA, and that is a law that’s currently protecting individuals who are unaffected from healthcare insurance discrimination, but also employer discrimination.  So, when you go into a job interview, your employer cannot ask you about your genetic status.  Your health insurance provider cannot ask you about your genetic status that may predispose you to certain conditions.  Of course, there are some limitations like employer size or things like that, but also to consider that these are really only employers and healthcare insurance.  Elective insurances like long-term care disability, life insurance, those are not protected under GINA.  Therefore, any unaffected individual, I always discuss if these optional insurances are something that someone’s interested in partaking in, they should get that in line before we even order the testing for them.

Host:  That’s really great information.  So, Annie, wrap it up for us.  What would you like people to know about cancer, gene mutations, and more importantly genetic counseling and what you want them to know when they’re thinking about getting genetic counseling and testing to see what they might be at risk for?

Annie:  Generally speaking, if you have a personal or a family history of early cancer onset, say before the age of 50, or you have a strong family history of lots of cancers that are not typically known to be environmentally caused, please seek out genetic counseling or seeing a geneticist to discuss if genetic testing would be something that can help you be proactive, but also your family be proactive in detecting cancer either at early stages or preventing cancer.  We are always happy to talk to you about the risks and benefits of testing, but also the limitations and how we can really help someone with testing—an option for anyone who would like to discuss it, and it’s not required by any medical provider.  So, if you’re interested in seeing a provider at Boston Medical Center, Claire Hacking and Annie Nyberg are two genetic counselors here, but I know all across Boston, we have plenty of wonderfully helpful cancer genetic counselors that would be happy to see any individual, even if it’s just to address questions like, ”Do I meet insurance coverage or how could this impact my life without necessarily having to do testing at that point?”  

Host:  Great information.  What an informative segment.  Annie, thank you so much for joining us today. That wraps up this episode of Boston Med Talks with Boston Medical Center.  To learn more about genetic counseling with Boston Medical Center and to get connected with one of our providers, head on over to our website at bmc.org.  If you found this podcast as interesting as I did, share it with people you know.  Share it with your friends and family or on social media because that  way we can all make these informed decisions and learn from the experts at Boston Medical Center together and be sure not to miss all the other interesting podcasts in our library.  Until next time, I’m Melanie Cole.