What Does A Genetic Counselor Do, Anyway?

What is a Genetic Counselor?

It’s a question every single genetic counselor has heard many times. While it can be frustrating, it’s also kind of understandable. While genetic counseling has been around since the early 1970s, up until fairly recently, the vast majority of people didn’t have much of a reason to see a genetic counselor. 

Recent advances in science and our understanding of how genetics impacts many common health conditions (cancer, heart disease, etc), as well as significant increases in the amount of prenatal tests available, have led to more and more people being offered genetic counseling. But why?

Simple! Or rather, not so simple. Genetics and how it relates to someone’s health can be very complex. Genetic counselors are experts, trained to help patients and other medical providers understand how genetics and genetic tests can impact our health in many different areas.

Cancer Risk

For example, if you have a significant family history of breast and ovarian cancer, you have an increased chance to carry a mutation in a gene such as BRCA1 or BRCA2, which can increase the risk for breast cancer to as high as 80%, can increase the risk for ovarian cancer to as high as 40%, can double the risk for prostate cancer in men (to about 30%), and can increase the risk for pancreatic cancer to up to 5%. 

Knowing there is a higher chance due to our genes is not always deterministic; just because you test positive for a BRCA1 mutation does not mean you will get cancer. But knowing that you have a higher risk for cancer opens the door for discussions about what options are available to people to help address that risk (increased screenings such as mammograms or colonoscopies, preventative surgery, etc). This, as well as the emotional impact of learning news like this, is something that a genetic counselor can help put into context.

On the flip side, let’s say you have a significant family history of breast cancer and have had tested negative genetic testing. You have the average general-population risk for breast cancer then, right?

The answer is FALSE. Women who have a family history of breast cancer have a higher than average risk for themselves to develop breast cancer, regardless of what their genetic test results are. A genetic counselor is able to thoroughly explain genetic test results, and put those results into context given your personal and family history to help determine your level of risk and what medical management would be recommended.

Prenatal Testing

Being able to understand the results and implications of prenatal genetic tests is also a very important role that genetic counselors take on. There are many different types of tests offered during pregnancy, and they can potentially test for a wide array of things. Some of these tests can tell you definitively whether your baby has a chromosome condition, such as Down syndrome, while others may only tell you if there is an increased chance. Even though there are many nuances to these tests and their implications for the pregnancy, many women do not receive appropriate counseling before having the testing. This can lead to patients not understanding what exactly the test is looking for, or what the results could be, until the results are already back. 

Genetic counselors can help to explain in more detail what these tests are, what types of health conditions they can look for, how accurate they are, what types of results to potentially expect, etc. Making decisions about whether or not to do prenatal genetic testing is a very personal choice, and there is not one answer that is right for everyone.

A big part of what a genetic counselor does is to make sure that patients and their families have all of the information they may need to make a decision about what, if any, prenatal genetic testing is most consistent with their thoughts, beliefs, and expectations.

Not having the benefit of this conversation beforehand can have unpleasant consequences. In my time as a genetic counselor, I’ve met with countless women who were referred because they had a prenatal genetic test that showed there could be an increased chance for a chromosomal or genetic condition in their pregnancy. A not insignificant number of those women expressed that it was not clear to them what the testing was going to look for, and that if they had known they likely would not have done the testing. This can put patients in a very difficult position of now knowing information that could affect how they feel about the pregnancy when they did not want it.

We as genetic counselors want the best for our patients. That’s why we do what we do. The backbone of what we do is centered around patient autonomy: every person should have access to information that they need to make an informed choice about what, if any, genetic testing they would like to do.