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Jefferson Health

Home of Sidney Kimmel Medical College

Why a Genetic Counselor Should Be a Part of Your Healthcare Team

Curious about how a genetic counselor could inform and enhance your healthcare? We sat down with cancer genetic counselor Kylie Borden to find out.

Editor’s note: This article was updated from an earlier version posted in March 2020.

Having a family medical history with a disease like cancer, heart condition or Alzheimer’s disease can bring on anxieties and worries about your future or about passing them along to your children. Seeing a genetic counselor can offer you the peace of mind and power of knowledge, as well as make sure your healthcare is catered to your unique needs and concerns.

We sat down with Kylie Borden, MS, CGC, a board-certified licensed cancer genetic counselor, to learn more about how genetic counseling can inform and enhance your healthcare.

What is the purpose of a genetic counselor?

A genetic counselor is well-versed in human genetics and counseling. We help assess individual and family risk levels and provide evidence-based guidance for patients seeking further care. This may lead to catching disease early, preventing it, or reducing the risk for reoccurrence. Preparing patients for the process of genetic testing is also an integral part of our role.

Some patients may desire this information not only for themselves but for their family members as well. It can be incredibly beneficial to know how certain inherited diseases and conditions might affect others, such as children or grandchildren.

Must you have genetic testing if you go for counseling?

No, this is a big misconception. Counselors aid in the testing process, in terms of understanding what results mean, which is why we often talk about them together. However, they’re not interchangeable or dependent on each other.

Genetic testing provides evidence of specific mutations that predispose us to cancer while counseling guides the best way to manage, treat, and screen for certain conditions.

Can anyone see a genetic counselor?

Yes, anyone can see a genetic counselor to understand their individual health risks. However, patients are more commonly referred when they have a known family history of certain conditions, or they’re being treated for a condition suspected to have genetic links.

You specialize in cancer counseling, what other kinds of genetic counselors exist?

Genetic counselors can be an essential part of the care team for prenatal care, family planning, pediatrics, neurology, cardiology, and more.

How does knowing your family history benefit your health?

Knowing your family history, in general, is helpful for any healthcare provider to decipher where certain complications stem from, and to know what you may be at risk for as you age.

With a comprehensive family history, we can implement screening when needed and catch disease in its tracks. Perhaps you need a mammogram or colonoscopy at a younger age than the guidelines suggest, or maybe there’s a screening not necessary for the general population that is for you.

How can you approach the medical history discussion with family members?

Naturally, some families are closer than others. I’ve found that when patients are honest about what they’re doing – pursuing genetic counseling and/or testing for their health – most people are open to helping this process. While specifics are helpful, sometimes they’re not available; try asking what kind of treatments were had.

How far back in your family history should you look?

Typically, second-degree relatives such as grandparents, aunts, and uncles are ideal. Sometimes it’s also helpful to consider more distant relatives such as cousins or great-aunts/uncles, if you know of something significant that happened with a third-degree relative.

How do you determine what kind of testing be done?

If you opt for genetic testing, it can be personalized. A counselor may recommend targeted tests to look for genes that are the most prominent to family history (i.e., if you’re looking at one specific cancer). However, you can also do a broad panel test, covering various conditions. Some parents wish to provide as much information as possible to their children.

How do you prepare patients for test results?

A positive result for a cancer mutation can be daunting. Unless there’s a known history, it will likely come as a surprise. This is why we have pre-test counseling. I ask people to “try it on” and react as if they’ve already received the positive. I make myself available for questions, and I can refer them for further assistance with our oncology social worker.

Sometimes, for people who already have (or had) cancer, a positive test result gives some semblance of closure and explains the “why?”

Whether you come to us during treatment, as part of survivorship, or generally to stay on track with your health, we’re here to help walk you through whatever your “next steps” might be in your healthcare journey.

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