With genetic testing from Missouri Cancer Associates, a young mom gets ahead of an increased cancer risk.

As Jennifer Frerking, busy mom of a 3-year-old, attended her annual check-up at Women’s Health Associates, she was considering taking a leap. Every year at her appointments with OB-GYN Stephanie Womack, MD, the doctor had suggested that Jennifer visit Boone Health’s High Risk Breast Clinic. Jennifer’s mother is a breast cancer survivor, which she knew put her at much higher risk, but now she had another person’s wellbeing on her mind.

She says, “I had thought about getting genetic testing before, but I don’t think I would have actually done it if it wasn’t for my daughter. Becoming a parent makes you think about things differently – I realized I wasn’t invincible and should go ahead and do this.”

At her first appointment at the High Risk Breast Clinic, Jennifer met with Boone Medical Group Surgery nurse practitioner Tiffany Carmichael, APRN, who explained genetic testing to her.

“Tiffany talked to me about my risks and suggested the genetic blood test. I decided that was something I wanted to do, and I got the test through Missouri Cancer Associates,” says Jennifer.

Tiffany explains that if you have a strong family history of breast cancer or other characteristics of cancer within your family, having a genetic mutation can increase your risk of developing cancer. Genetic testing is an excellent option to know your risk.

“Knowing this information gives you the ability to increase your screening for breast cancer or take preventative options such as prophylactic surgery, where you remove one or both breasts to lower your risk of cancer. If you qualify and you’re ready to move forward with genetic testing, it’s as easy as a blood draw in the office. Once that is complete, it usually takes somewhere between 7 to 14 days to get your results,” says Tiffany.

At Missouri Cancer Associates, Jennifer met with nurse practitioner Gloria Drouin, APRN, MSN, for her genetic test. Missouri Cancer Associates uses a program developed by Invitae, a clinical genetic testing company, that helps their providers determine which genetic test is ideal for screening cancer risks in each patient.

“I use a software that Invitae provides to develop the patient’s family pedigree. Based on this pedigree, I determined which panel test would be best suited for Jennifer based on her family history of cancer,” says Gloria.

When Jennifer received her results the week after her blood draw, she was initially relieved.

“The results said I didn’t show a mutation for an increased risk of breast cancer, but it did show a mutation that can present a higher risk of colorectal cancer. When I got the results, I remember just feeling glad it didn’t say a higher breast cancer risk because that was my primary concern with my family history,” said Jennifer.

Shortly after receiving her results, Jennifer received a call from Tiffany at the High Risk Breast Clinic. Tiffany explained there is some evidence supporting a correlation between her mutation and a predisposition to breast cancer. The evidence, however, is preliminary and insufficient to make a determination regarding these relationships.

“That was stressful to hear, but I’m so glad she followed up with me. We scheduled an appointment to talk about my options which include immediate and increased screenings and even preventative surgery – something I find scary to think about, but they explained it to me in a very reassuring way,” says Jennifer.

“Genetic testing can be scary, but it can also be empowering,” says Tiffany. “If you think you have a genetic mutation risk, have the conversation. Know what all your options are, then decide how you want to move forward.”

For now, Jennifer’s plan is to get frequent early mammograms and MRIs, and in a few years, start regular colonoscopies. She says she’s incredibly grateful for the knowledge she gained from having genetic testing and would recommend it to anyone with a family history.

“The whole experience was very eye-opening. I have proactive options to consider now, and I probably wouldn’t have started the early screenings otherwise,” says Jennifer.

Because a potentially cancerous gene was found during Jennifer’s screening, Invitae offered to test her mother and other close family members at no cost.

“They actually found the gene in my mom, too, which is good to know. It puts into perspective how serious this could be,” says Jennifer.

Genetic Risk Evaluation and Testing

Our cancer genetic educator Mung Chin, MSN, NP-C, OCN is certified in cancer genetics. Learn more about Missouri Cancer Associates Genetic Evaluation and Testing Program, click here.

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