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Let's Break to Educate: Genetic Counseling and Hereditary Cancers

August 03, 2021 Posted in: Patients & Providers , Cancer Care

Video Transcription

Hi. I'm Bethany Kelly, and I'm a genetic counselor with CHI Saint Joseph Health – Cancer Care. Thank you for joining us today for Let's Break to Educate. Our topic for today is genetic counseling and hereditary cancers, and I think the best place to start is with a question I get all the time, which is “what is genetic counseling?”

What is Genetic Counseling?

Genetic counseling is basically just a communication process about how genetic conditions might affect you or your family. A genetic counselor collects information about your personal health history, your family history, and uses that to determine how likely it is that there could be a hereditary condition in the family. And then the genetic counselor can help you decide whether genetic testing is right for you, and then after genetic testing, to make sense of that information. So, at CHI Saint Joseph Health – Cancer Care, our emphasis is on genetic counseling and testing, specifically for hereditary cancer.

Hereditary Cancer and Family History

So, what is hereditary cancer? So, in all, we think that about 5-10% of all cancer is hereditary, meaning that it's caused by a single gene change that's passing through the family and putting people at a higher risk for cancer. Some types of cancer are more likely to be hereditary than others, and some of those are breast cancer, ovarian cancer, colon cancer, prostate cancer, pancreatic cancer, and others. Others are less likely to be hereditary, such as lung cancer or cervical cancer. 

The first thing a genetic counselor does is to collect the family history, and we put that into a big family tree. Then we look at that to determine if there are certain patterns to suggest that there could be a hereditary cancer condition. We like to look at about three generations, but we do know that some people have more family history information than others, and some really don't have any at all because of adoption or other circumstances, and we can work with that as well.

But, once we've gathered that information, then we look for certain clues and patterns within the family. Some of those are things like multiple generations of people with the same or related types of cancer, particularly when any of those cancers are occurring at an early age, which we consider under the age of 50. 

We also look for individuals who have had cancer more than once, and we're looking for independent cancer, someone that has had more than one independent cancer. So, not just a cancer that has recurred or spread from one organ to another, but cancer that has happened twice. For example, breast cancer in both breasts or someone that has developed colon cancer, and then later uterine cancer.

We also look to see if there are any individuals who have any rare cancers, like a male with breast cancer. The more of these clues that are present, the more likely it is that there could be a hereditary cancer condition in the family. And then, in addition to these family history clues, there are also certain situations where guidelines recommend genetic testing for someone, regardless of the family history. 

Our guidelines now say that anyone with pancreatic cancer, anyone with ovarian cancer, anyone with prostate cancer that is high grade or more aggressive or metastatic, those individuals should be offered genetic testing, regardless of family history. The same can be said for anyone who has had breast cancer under the age of 50 or colon cancer under the age of 50.

What is Genetic Testing?

So, what is genetic testing and how is it done? Genetic testing consists of a blood draw or, in some cases, a saliva sample, but then it's sent off to a lab for genetic analysis. We look at a panel of genes, so a number of genes that are sequenced to see if there are any harmful variants or mutations within that gene that could increase the risk for cancer. 

The type of genes depends on the type of cancer or cancers that are seen in the family, and so we may test 25 genes, we may test 85 genes, depending on what we see. So, for example, if there's a family history of breast cancer, we will test for those genes that you've probably heard of – the BRCA1 and 2 genes, plus other genes that we know can cause hereditary breast cancer.

If there's colon cancer in the family, we will test for the genes that are involved in a condition called Lynch syndrome and then other colon cancer genes as well. And then it usually takes about three weeks for us to get the results back when do that.

What if I Test Positive?

What happens if somebody tests positive – what does that mean? If the person has found a carrying mutation in a hereditary cancer gene, the first thing that we want to do is sit down and educate them on what that means. 

Not all genes and not all gene mutations are created equal. Some may give a small but significant increased risk to develop one type of cancer; others might give a larger risk to develop multiple types of cancer, and so it doesn't automatically mean that you're going to develop cancer, but we want to discuss that.

So, we talk about what types of cancers are involved, what those actual risks are, and most importantly, what we can do about it. As I'm sure you know, unfortunately, cancer as a whole is not uncommon. Most people will have at least a little cancer, if not more, in their family history, but we think that if we can figure out who fits into that 5-10% that are at the highest risk, then we can empower and enable those patients and their families to do things to lower those risks.

Lowering Your Risk

So, what those things are, are enhanced screening, extra screenings, starting cancer screenings at an earlier age, maybe doing them at more frequent intervals. The purpose of that is to catch any cancer that might develop at the earliest stage when it's most treatable, or, in certain cases, we have the opportunity to prevent cancer all the way around, and so we want to provide those options to patients as well.

The goal when you walk in is to make an individualized plan for everyone, whether their testing is positive or negative, or whether they choose not to do genetic testing at all. 

Even when someone tests negative, there's still often a family history that needs to be taken into account, and so we want to make specialized screening recommendations based upon the family history that's there. And, of course, with a positive test, we spend a lot of time thinking about and talking about how that gene is inherited in the family and who else might need to be tested. 

We can facilitate testing for other family members as well. So, this is the goal of genetic counseling and testing. It's awareness and empowerment, and having someone to really walk alongside you and help you understand and process what is sometimes very complex information and sometimes difficult information.

One thing that I want to emphasize is that genetic counseling is a communication process. We are gathering information from you, we are giving information back to you, and then we want to help you make the decisions that are best for you. 

Coming to a genetic counseling appointment in no way obligates someone to do genetic testing. Many people choose to go ahead with genetic testing and some don't, and that's perfectly fine. There's not a right answer for everyone or for everyone's family, and we want to give people the autonomy to make that decision. 

How Much Does Genetic Testing Cost?

So, one big question that everyone asks is, how much does genetic testing cost? It's much more affordable than it used to be and much more affordable than one might think. So, if someone meets criteria for genetic testing, most of our patients in that situation pay less than $100 out of pocket, and part of the genetic counseling appointment is always spent talking about whether someone meets criteria, what their insurance situation is. And so, before the testing is even done, they will have a pretty good idea of what the out-of-pocket cost might be, and so, we don't want that to be a barrier for anyone.

How To Make an Appointment

So, then, how do you make an appointment for genetic counseling? If you're concerned about your family history or your personal situation, you can talk to your provider and they can send a referral over to us. You don't have to have a referral and you can call a genetic counseling office directly, and they'll walk you through that process. 

I want to thank you again for joining us today for Let's Break to Educate. If you have any additional questions, please don't hesitate to call our office at 844.835.4363 or visit our website at

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