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How a Genetic Counselor Can Help You
Interviewer: National Family History Day is Thanksgiving Day, which is a great time to talk to your relatives about health concerns, and health issues that your family has because family history is one of the most reliable tools for predicting disease risk.
Wendy Kohlmann, genetic counselor at Huntsman Cancer Institute, let's talk about that and what you do as a genetic counselor to help people stay healthy.
Wendy: In general, we all have some background level of risk of developing disease. About one in three people are going to develop cancer during their lifetime, and the majority of those are simply due to chance and getting older. Some families may have a moderately increased risk. Generally, anyone with a close relative with cancer, such as a parent or a sibling, has about twice the risk of developing that type of cancer compared to someone who has no family history. So there are individuals who fall into this moderate risk group.
And then there are rare families who fall into a high-risk category in which there tend to be often multiple relatives with a particular disease. In our specialty at Huntsman, we're focused on those families with multiple cases of cancer. Other red flags that we look for are the development of cancer at much younger than average ages or individuals who develop multiple primary cancers.
When we see those types of patterns in the family that may suggest that there is a specific nonworking gene being passed on in the family conferring a greatly increased risk. It's those types of families in particular where genetic counselors can play a role in terms of helping to identify those high-risk families and providing them with information about how this risk is being passed on and what they could do in terms of screening and prevention.
Interviewer: So just because there's a family history doesn't necessarily guarantee that I'm going to have a particular illness.
Wendy: Exactly.
Interviewer: That's what you're trained to do, is figure out how significant is this chance based on family history.
Wendy: Exactly, to help people find where they fall on that risk spectrum and then based on their level of risk, what types of extra screening or preventative strategies would be beneficial for them.
Specific Questions You Should Be Asking Relatives About Your Family's Medical History
Interviewer: Thanksgiving, the holidays, Christmas, all great times to talk to some of your relatives. I was in the doctor's office the other day and they were asking me about my family health history. Knew a lot, but a lot of holes as well. What are some specific questions that you should ask? Then I want to talk about genetic testing and how that might help as well.
Wendy: Well, particularly here in Utah people have a lot of interest in their genealogy and studying their family tree. We'd really encourage people to incorporate medical history into that family research as well. Actually knowing the specific type of cancer is very important for risk assessment as opposed to just in general that a relative had cancer. Cancer is actually hundreds of different diseases.
Also collecting the age at which it was diagnosed. As I mentioned earlier, the risk of getting cancer increases as we get older, so having cancer happen at younger than average ages is really important. Another thing that's important to ask about are can help provide clues in the family history is also asking about screening and prevention procedures. For example, in a family where maybe there have been some relatives with colon cancer, that may be prompting other relatives to go out and get colonoscopies. So instead of being diagnosed with cancer, they're maybe being found to have precancerous polyps that are being removed and prevented. Now, asking relatives about their colonoscopy over Thanksgiving dinner, maybe not the best timing.
Interviewer: Not the most appetizing of conversation.
Wendy: But these are important pieces of information and these are important clues that we would use to help identify a family that's at increased risk.
Genetic Testing to Collect Family Medical History
Interviewer: All right. So that's one way of gathering some family history, is actually talking. The other one that you can do is genetic testing.
Wendy: Genetic testing really works well to help augment the information that we're getting from a family history. It's not necessarily a replacement for digging in the family history and getting good information about this, but basically, when we see a pattern of cancer in a family that suggests that there's a higher-than-average risk being passed down, genetic testing is a tool that actually allows us to go in and look at a person's DNA and try to pinpoint what might be wrong if there is a particular genetic alternation or mutation causing a gene not to work properly. If that could be pinpointed that could give us some more specific clues.
For example, the BRCA1 and BRCA2 genes, not only elevate the risk for breast cancer but also ovarian. So, for example, in a family where we had seen multiple cases of breast cancer, if we go in and see that that risk is being caused by a mutation in the BRCA1 gene we can then alert those family members and say, "Not only do we need to be watching your breasts but also think about preventative measures for ovarian cancer."
Also, most genetic mutations that cause an increased risk for cancer are passed down in a way in which if a parent has that genetic change their offspring will have a 50/50 chance of inheriting it. So basically it means that not everyone in the family is necessarily at risk. So pinpointing the genetic change that has caused the risk also then let's us test at-risk relatives who are concerned about their risk and see whether or not they've inherited that change.
An experienced genetic counselor can take those genetic test results, whether they find something or don't find something, and then once again put them in context with the person's family history and still have that individual leave their appointment with a tailored management plan.
Interviewer: That's probably the key, right? It's tailored management as opposed to just blanket screenings. At 50 you go in for this . . .
Wendy: Exactly.
Interviewer: Okay. So what if somebody doesn't know their family history, if they're in that sort of situation and there's not really good way for them to get information? Can they still benefit?
Wendy: Yeah. That's certainly something that happens, people who perhaps are adopted and don't know their biological family or sometimes just individuals who have very small families in which there were just very few relatives and maybe some of the key people have passed away and so it's difficult to get information.
In general, we try to help people work with the information that they have at hand. If someone doesn't have any information at all about their family history we generally try to be reassuring that most of these conditions that cause a high risk for disease are quite rare and that in the absence of any clues or evidence that there's something in their background putting them at an increased risk, we generally tell them to stick to those general population screening recommendations.
Benefits of In-Person Genetic Counseling
Interviewer: How does the service that you provide differ from perhaps one of the genetic tests I can order over the Internet?
Wendy: The tests offered by these Internet companies are not looking at full genes. They're not fully analyzing particular genes that are known to be associated with high risk for disease. They're interesting and people have found them to be an entertaining way to learn a little bit more about their genetic makeup. A lot of those companies also can provide information about a person's ancestry in terms of where their family originated.
So there are some really interesting pieces of information that can come from those types of companies, but if you really have a strong pattern of a disease in your family and are concerned about that, it really is important to talk to a specialist who can identify the genes that would be most appropriate to test and then make sure that those were tested in the correct, most thorough way.
Interviewer: Somebody's interested in genetic counseling here at Huntsman Cancer Institute. How can they make that happen?
Wendy: Huntsman Cancer Institute has a family cancer assessment clinic. This is a clinic where you have an opportunity to meet with a genetic counselor and specially trained physicians to review your family history and talk about your risk for cancer and, like I said before, leave with a personalized, tailored cancer screening program. The phone number for our clinic is 801-587-955.
Interviewer: So does insurance cover this?
Wendy: In general, insurance covers our visits just like they would any other appointment, and most insurers now also cover most forms of genetic testing. Any time that your family's getting together, reunions, weddings, these are all great times to not only catch up and ask your relatives how they've been but how's their health been as well.
updated: November 28, 2024
originally published: November 26, 2013