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Precision Prevention with Genetic Counseling

S4 breast cancer cells.jpg
Breast cancer cells viewed under a microscope.

Long before Angelina Jolie told the world that she had tested positive for a mutation in the BRCA1 gene and why she decided to remove her breasts and ovaries, Huntsman Cancer Institute was using genetic testing to identify people at increased risk for cancer.

In 2013, actress Angelina Jolie-Pitt made headlines when she went public with a decision to have a preventative double mastectomy. In 2015, she had her ovaries removed as well. Jolie-Pitt made these decisions because a blood test revealed she has a genetic mutation that gave her a high risk for breast and ovarian cancer. Her mother, grandmother, and aunt all died of cancer.

Jolie-Pitt's announcement gave a very public face to ongoing research at Huntsman Cancer Institute (HCI) and other cancer centers across the country. But, her discovery and decision to take action is not a celebrity story. It is intensely personal.

At HCI, Julianne sought genetic testing after her sister, aunt, and grandmother were all diagnosed with breast cancer. Julianne said she had an inkling that she could be at risk, and wanted to know sooner, rather than later. It turns out her inkling was correct.

Genetic testing confirmed Julianne has a mutation in the BRCA2 gene, which greatly increases her risk of developing breast and ovarian cancers. "Learning I had the mutation was devastating for a time, but honestly that feeling did not last very long," says Julianne. "I started talking with people right away to look at what my options were."

One of those people was Wendy Kohlmann, MS, CGC, a genetic counselor at HCI's Family Cancer Assessment Clinic. Genetic counselors are health care professionals with special training in inherited diseases and new genetic technologies. They meet with patients and families, look at cancer histories, and help determine if genetic testing will be helpful. If the tests are given, genetic counselors help interpret the results. Depending on the results, they can help people take action to prevent cancer or detect it earlier.

In line with accepted clinical standards, Wendy recommended that Julianne consider having her ovaries removed. She decided to do so. Julianne says the improved odds of being cancer-free to see her two children grow up outweighed the negatives of major surgery. "The risk would have been hanging over me all the time. Now I feel like I don't have to worry. That weight is gone," she says.

Wendy says genetic testing is "precision prevention." She explains, "We use genetics and family history to focus on individuals with greater risk. We can screen more intensively and maximize our chances of early detection."

Julianne says she's grateful for genetic testing and counseling at HCI, and adds that her children will be tested for their cancer risk when the time comes. While genetic testing technology came too late for her aunt and her sister, she hopes all who think cancer runs in their families will look into whether testing is right for them.

"My relatives' lives could have been saved if they had known earlier," Julianne says. "I think genetic testing gave me a chance I wouldn't have had elsewhere."

Huntsman Cancer Institute (HCI) is a National Cancer Institute (NCI)-Designated Comprehensive Cancer Center, which means it meets the highest standards for cancer research and receives support for its scientific endeavors. HCI is located on the campus of the University of Utah in Salt Lake City and is a part of the University of Utah Health Care system. HCI treats patients with all forms of cancer and operates several high-risk clinics that focus on melanoma and breast, colon, and pancreas cancers, among others. HCI also provides academic and clinical training for future physicians and researchers. For more information about HCI, please visit www.huntsmancancer.org.

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