Erica Blouch, Adjunct Assistant Professor of Genetic Counseling and Senior Genetic Counselor at the Mass General Cancer Center, explains the role of genetic counseling for breast cancer detection and treatment

October is Breast Cancer Awareness Month, and while most are familiar with the disease, many aren’t as familiar with the role genetic counseling plays in the breast cancer journey for patients and their families. At the IHP, Adjunct Assistant Professor of Genetic Counseling Erica Blouch is working to change that by teaching students in her Cancer Genetic Counseling course in the Master of Science in Genetic Counseling program and sharing her experiences working as a Senior Genetic Counselor in the Mass General Cancer Center.

In this edition of The IHP Interview, Blouch discusses how genetic counseling works in regard to breast cancer, who should get tested, and how the field continues to evolve. The conversation below has been edited for brevity and clarity.

Let’s start off by discussing the role of a cancer genetic counselor. Tell us about that. 

Cancer is, unfortunately, a common disease, but most of the time, it’s sporadic and it happens as a result of aging or environment, nothing that would really impact family members too much. But 5 - 10% of cancer is hereditary, meaning an individual is genetically predisposed to certain types of cancer. That's where my role comes in, to talk to patients who have a cancer diagnosis or have a family history of cancer and help to determine if their cancer could be hereditary. If it is, we then offer advanced screening and more personalized recommendations for cancer screening and management.

But more broadly, genetic counselors can work in different settings – not just in the cancer setting. Oftentimes, they work with patients who are currently pregnant or with people who want to get pregnant, or they work with children who are showing developmental or physical delays as they're getting older. 

For me, I've always been interested in cancer as a disease, because it’s a biologically interesting issue. Genetic counseling was a way for me to combine my biological interest in cancer with my interest in working with patients.

For cancer patients, how does genetic counseling work? 

There are two ways that genetic counseling and testing works in oncology. One is from the angle of hereditary risk, and the other impacts how the cancer is treated. 

Say we have a patient with breast cancer and maybe they're diagnosed at a young age and their mom had breast cancer as well. We may administer genetic testing, and it comes back normal, meaning that their cancer is not hereditary. Now, we’ve answered that question for the family: was the cancer in this family hereditary? And the answer is no. That offers the family peace of mind – they know they don’t have to worry about other members of their family, necessarily. 

On the flip side, if we test that patient who has breast cancer in themselves and their family, and those tests come back to show that the cancer is hereditary, we have also answered the question in a different way. Now, we can say yes, this patient could be at risk for other types of cancer, and their family members are at risk of having hereditary diseases well. Now we can be proactive with their family members. It’s always most effective to start by testing that family member who had a cancer diagnosis. 

Now, maybe the family member with cancer never had genetic testing before passing away, or it was many years ago and the patient didn’t want to know that information at that time. That's when we offer testing to the family member that hasn't had cancer, because it's still possible that that person could benefit.  

In other oncology spaces, separate from what I personally do, genetic testing can allow us to learn more about an individual’s specific cancer so that better treatment options can be chosen.

Genetic counseling in a cancer setting has not always been widely understood. Today, this is beginning to change. What drove this rise in public awareness? 

A big pivot point for us came in 2013/2014. At that time, actress Angelina Jolie came out in the New York Times and disclosed publicly that she has a BRCA1 gene mutation, the most widely known of the hereditary cancer genes. So, at that point, a big public awareness campaign kicked off, and in some ways did impact the number of referrals we were getting as genetic counselors. Some patients that probably should have been referred a long time ago now heard about these genes and the work we do and were being referred for genetic counseling and testing. This was also around the same time that that the technologies we were using changed, which allowed us to test offer more advanced testing. All of these factors increased our patient numbers and we’ve had to adjust as clinicians. 

You mentioned technology advancements and changes in the industry. Could you expand on that? 

In recent years and decades, we went from being able to just test one or two genes at a time, to being able to do what's called panel testing, where we can now test up to 80 genes or more at one time. This has changed the practice a bit and made it more interesting. 

Another piece is that the cost of genetic testing has come down and more insurance companies now cover it, or partially cover it, and that means we can offer genetic testing and counseling more broadly than a decade ago. So, seeing the wider benefit has also been exciting over the years.

Who should talk to their doctors about genetic counseling and testing for breast cancer?

Anyone who has questions about their genes or cancer risks should certainly talk to their doctor. Certainly, if somebody has a family member with breast cancer or other cancers at a young age (usually before the age of 50), or if they have a family member or multiple family members with cancer, they should be seeking guidance from genetic counselors. 

Another layer to this is the combinations of cancers in a family. There are certain combinations that can be more likely to be hereditary, which is what we are most often looking for in our work.
This is all info that would be helpful to equip individuals with so that they can make the best decisions for their health.  

More information of the Mass General Cancer Center’s Breast and Ovarian Cancer Genetics Program, and tips on navigating this process can be found here.

How do you think the IHP genetic counseling program helps prepare students for future work with breast cancer patients?

I teach the Cancer Genetic Counseling course and we have a comprehensive class - 14 weeks dedicated just to cancer genetic counseling. And in that case, we do touch on all the different types of cancers, including breast cancer, and we spent a lot of time talking about breast cancer because it’s one of the most common areas of the cancer genetic counseling field. 

The students get to complete at least two standardized patients who are focused on breast cancer: a patient who has been diagnosed with breast cancer in one scenario and a patient who has a family history of breast cancer in the other scenario. They get to contrast what the dynamics are when talking to a patient who has a cancer diagnosis versus the family member who doesn't have a cancer diagnosis, and what are the different approaches that you might take in those two scenarios. Once we finish our class, the students do a clinical rotation, so they all have field work in the cancer clinic; I think most students see a lot of breast cancer patients in that setting because this is the most common referral we see in the clinic.

What are you looking forward to in this space? 

Genetic counseling really opens doors to better understanding cancer. Once we understand some of the hereditary causes of breast cancer, we can understand some of the biology of why cancers are happening. These genes that we’re detecting are important in cancer development. And this information holds the key to future innovations to help patients.

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