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UnityPoint Clinic Urgent Care - Sunnybrook

5885 Sunnybrook Drive
Sioux City, IA 51106

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1 hr 4 min

Genetic Testing: A Life-Changing Journey

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Genetic Testing: A Life-Changing Journey

After delivering her fourth son, Diann had a conversation with her provider on a topic she wasn’t expecting: genetic testing. She left a routine follow-up appointment with a brochure in-hand and information to process.

“At my eight week post-op check, we began discussing the best frequency for my yearly screenings. Because of my family history of multiple types of cancers, my provider suggested we consider what genetic testing could reveal,” Diann says. “He recommended Myriad genetic test, which would test for 28 genetic markers and determine whether or not I was a carrier. For my husband and I, there was never a question. We wanted to know what might be in our future.”

Not soon after, Diann had her blood drawn for the genetic testing panel. Anne Heun, genetic counselor at UnityPoint Health, describes how simple the actual test is to complete.

“Genetic testing can be performed using less than 10 milliliters (mL) of blood, or it can be performed on a saliva sample,” Heun says. “Genetic testing continues to be an important part of cancer risk assessment, but it is only a piece of the puzzle. Comprehensive genetic counseling can use genetic testing results to inform a patient of cancer risks, but a patient’s personal and family history is also very important in determining risk.”

After waiting several weeks, Diann received her results. She tested negative for the BRCA gene, which is most commonly associated with breast cancer. However, she tested positive for a relatively newly identified gene mutation called CHEK2, which indicates a high risk for breast cancer, as well as colorectal cancer. From there, Diann and her husband met with a genetic counselor to begin processing the findings.

“Hearing my results was empowering and unnerving at the same time. But, meeting with a genetic counselor added that objective and calming presence to a very emotional decision,” Diann says.

Heun explains how she and other genetic counselors walk patients and their families through what the results of a genetic test means.

“We spend a lot of time with patients processing the medical implications, but also the emotional implications. We discuss how to talk with at-risk family members, what preventive surgery would entail, as well as how patients can manage risks in a way that fits their goals and philosophies. From there, we refer them to appropriate providers, such as surgeons, oncologists and psychologists,” Heun says.

After finding her risk to be between 36-48 percent likelihood of getting breast cancer, Diann chose to aggressively take action. Prior to scheduling next steps, it was required to get a baseline mammogram. On her tenth wedding anniversary, she received the news that her mammogram came back abnormal.

“We weren’t sure if this meant we had caught something early, or if this was just a shaded area on the imaging. Regardless, it solidified our decision to move forward with preventative surgeries and avoid living in fear, waiting for cancer to pop up,” Diann says.

In August 2015, Diann had a double mastectomy and began reconstruction surgery. Thankfully, during the mastectomy, pathology showed all tissue to be cancer-free.

With her fourth and final surgery behind her, Diann is grateful she had the opportunity to impact her health care decisions through genetic testing.

“I told our children, ‘I’m doing this because I love you and I want to be here.’ And thankfully, insurance helped make this possible,” Diann says.

Heun says the insurance industry is typically supportive of genetic testing.

“Genetic testing is often covered, and usually covered well, by insurance. Generally, there are guidelines a person must meet, based upon age or how much family history is present. Occasionally, a patient doesn’t meet guidelines but may still be an appropriate candidate for testing, and we can sometimes prove to insurance that testing is indicated,” Heun says.

Looking ahead, Diann will continue regular screening appointments for breast and colorectal cancer prevention, even though her estimated risk of breast cancer after the mastectomy is now less than two percent. She and her husband also plan to encourage their four boys to go through genetic testing once they reach their 20s. If they have the gene, CHEK2 also implicates a higher risk for prostate cancer, in addition to male breast and colorectal cancers, so they can then work with their providers to determine appropriate screening programs, if they are genetic carriers.

“Genetic testing is so life-changing, regardless of positive or negative results. It is much more of an emotional process than I ever could have realized. For me, I got to take my health in my hands,” Diann says.

If you have a family history of cancer and want to know more about genetic testing, contact your UnityPoint Health primary care provider to learn what options are available.