Genetic Counselor, Oncology
Angela Brickle
There is hope. Genetic testing is big information. That’s not to be taken lightly. It’s significant. A lot of times, the patients who are going through genetic testing are going through cancer or are watching their loved ones go through cancer.
That’s really big to have to go through. That’s hard. Genetic testing is there to be a tool and benefit so we have all the tools we possibly can have to help your families.
Angela Brickle
There is a lot of power in knowledge. Accept that gift of information for your family. Understand that this is going to help you take care of yourself and your family. ”
- Name: Angela Brickle
- Title: Certified licensed genetic counselor
- Georgia Cancer Center
- Experience: 5 to 10 years
- Your background
- Factors to consider for genetic testing
- Who should get the genetic testing in the family
- Which kinds of cancers are more likely to have genetic factors
- Genetic counseling
- Genetic testing
- What are the potential results of genetic testing
- Positive results
- Negative results
- Variant of uncertain significance (VUS) results
- How do genetic testing results change and shape a patient’s treatment
- When and how is genetic testing covered by insurance
- How is genetic testing helping patient outcomes
- Is there anything else that’s important to note about genetic testing?
- Word of encouragement for someone who’s going into the genetic testing process
Your background
My name is Angela Brickle. I am a certified licensed genetic counselor, and I work in oncology genetics at the Georgia Cancer Center. I’ve been here about three years now.
I came here after I finished grad school. I’ve been working on building their genetic counseling clinic because they didn’t really have that before.
Factors to consider for genetic testing
A woman might have breast cancer, and we know the BRCA1 and 2 gene mutations are related to breast cancer, but just because a woman has breast cancer doesn’t necessarily mean she needs genetic testing.
Factors like her age, family history, and others might change that need whereas just having a more rare cancer like ovarian cancer or pancreatic cancer alone might be reason enough to test.
We look at families with histories of young onset cancer diagnoses, typically under the age of 50. We also pay attention to families who have multiple cases of rare cancers like ovarian cancer, pancreatic cancer, or male breast cancer. Those might be considered more suspicious or in need of testing.
If there’s a large number of affected relatives, we look at that, too. If there are several siblings in a generation being affected or several generations of one family being affected, we would suggest testing.
Who should get the genetic testing in the family
Once you pinpoint a family who could benefit from genetic testing, then it becomes a question of who in the family to test.
We typically recommend that an individual who has been affected by a particular suspicious cancer or the youngest person who has been diagnosed in the family get tested.
That’s simply because they would be the most likely candidates to find something helpful rather than testing someone in the family who hadn’t had cancer.
Which kinds of cancers are more likely to have genetic factors
Ovarian and pancreatic cancers are some we tend to look into. Some colon conditions, including Lynch syndrome, can cause colorectal cancer at young ages.
Certain types of thyroid cancers, like medullary thyroid cancer is a more rare one where we would certainly consider genetic testing.
Genetic counseling
There are two parts in the process: genetic counseling and genetic testing. Ideally, genetic counseling happens before the testing.
With counseling, I meet with the patients. We go over all their medical history and family history, and then I explain everything to them.
I tell them how genetic testing is done (through a blood draw), what we’re looking for, and all the different types of results.
Genetic testing
The next part is actual testing. They get their blood drawn, get the testing done, results take maybe a few weeks, and then I follow-up with them about the results.
Depending on results, if there are any additional appointments, screenings, or anything needed, we walk through that with them as well.
What are the potential results of genetic testing
There are three types of results: positive, negative, or variant of uncertain significance (VUS).
Positive results
A positive result means that there is a change or mutation in a specific gene that causes it to not be able to function properly.
Because of that, in the cancer realm, a positive result can cause an increased risk or predisposition for certain types of cancer.
A positive result does not mean that a person has cancer or was born with cancer, and it doesn’t mean it’s a guarantee that they will get cancer, but their risk might be higher.
Depending on which gene that positive result was in, that can tell us which cancers they might be more susceptible to. It can give us an estimate of how much their risk is increased for certain types of cancers.
Negative results
A negative result tells us that we didn’t see a change in those specific genes covered on the test. A negative result is good news, but it doesn’t necessarily rule out a genetic possibility for cancer because our testing is still limited.
We’re still only looking at so many. We’re always learning more about our genetics.
A negative result may reduce suspicion of a hereditary condition, but it doesn’t necessarily eliminate every genetic possibility. In that case, I always make sure to let patients know we want to continue to follow them based on their personal and family history.
Variant of uncertain significance (VUS) results
A variant of uncertain significance is a change in a gene, but it’s one that we’re still learning about. The lab is still trying to determine whether these are a negative or a positive.
It’s kind of like an inconclusive result. They are not uncommon.
We don’t treat them like a positive, but it’s one that the lab will learn more about and try to clarify. If they can learn more about it, they will update us. I try to warn patients ahead of time that this is a possible result.
It’s why genetic counseling beforehand is so important so that way they know what to expect. I try to prepare them for all three types of results and everything they might need to know before going into testing.
How do genetic testing results change and shape a patient’s treatment
It can certainly help guide what type of options are available to a patient depending on their stage and where they are in their treatment already.
If I’m meeting with a woman who is currently undergoing treatment for breast cancer, and we determine there are genetic factors, she may want to switch to a different therapy that responds to her cancer better as a result of that.
It could also help in a surgical decision. Again, going back to the breast cancer example, genetic testing results could play a role in deciding between a lumpectomy or going through with a bilateral mastectomy.
Genetic testing results can be that missing piece of the puzzle to help make those tough decisions. Ultimately, though, it’s up to the patient and what they’re comfortable with.
They can decide to just opt for more screenings based on a positive result, or they may decide something surgical like having an oophorectomy and things like that. Genetic testing opens up their options.
When and how is genetic testing covered by insurance
A lot of insurance companies follow typical National Comprehensive Cancer Network (NCCN) guidelines. Those are just established guidelines for who might be appropriate for testing. If a patient meets that criteria, testing is usually covered.
Testing cost has changed a lot over the last few years. Certainly, cost has come down a lot. Many labs are trying to make it more accessible, whether that be through lower out-of-pocket costs or payment programs.
A typical self-pay cost would be around $250.
How is genetic testing helping patient outcomes
Genetic testing helps shed light on treatment options for current patients for certain types of cancers, and knowing what options will work in your specific case is helpful.
The downstream effect of that is helping other family members.
If it’s other family members who haven’t been affected by cancer themselves, but they find they also have a positive result for a certain mutation, they now know to be proactive. It certainly helps to plan and prepare.
Is there anything else that’s important to note about genetic testing?
Genetic testing is always changing, and we’re always learning more. Our evaluation one day might be different down the road. We also recognize that families change. As time goes by, there may be new diagnoses. It’s a continual discussion.
It’s always important to make sure that you update your doctors about your family history and just that you know the family history. Talk to your family about those questions.
Word of encouragement for someone who’s going into the genetic testing process
There is hope. Genetic testing is big information. That’s not to be taken lightly. It’s significant. A lot of times, the patients who are going through genetic testing are going through cancer or are watching their loved ones go through cancer.
That’s really big to have to go through. That’s hard. Genetic testing is there to be a tool and benefit so we have all the tools we possibly can have to help your families.
There is a lot of power in knowledge. Accept that gift of information for your family. Understand that this is going to help you take care of yourself and your family.
Angela Brickle, Genetic Counselor
Genetic counselor: helps cancer patients and their families with genetic testing
Experience: ~5 years
Hospital size: Mid-sized edu
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