Genetic counselors can guide patients and families about risk for diseases
FARGO—LeAnn Toppen's trip to the emergency room led quickly to the discovery that she had ovarian cancer. A biopsy confirmed her doctors' suspicions.
After surgery and 18 weeks of chemotherapy, Toppen is cancer free. But she soon learned through genetic testing that she had inherited a gene that also placed her at high risk for developing breast cancer.
Not only that, the discovery came with the realization for the 57-year-old grandmother that her inherited risk had implications for her family, including her three adult children. Her father, who died at age 89, had prostate cancer and earlier had colon cancer.
Prostate cancer was common on that side of her family, but the disease struck men in their late 70s or 80s.
As a result, "They didn't think anything of it," she said.
"But he didn't do genetic counseling," Toppen said. "I don't think it was ever brought up."
As it happened, one of the doctors treating her ovarian cancer at Sanford's Roger Maris Cancer Center had also cared for her father. He suggested genetic counseling. Her oncologist thought she might have a gene that increases the risk of ovarian and breast cancer in women as well as prostate cancer in men.
"He said if I had it, my kids would have a 50-percent chance of inheriting it, too," said Toppen, who readily agreed to the testing. "I did it mostly for my kids."
The results came back positive. Toppen carried a gene mutation known by the abbreviation BRCA2. BRCA2 and a related mutation called BRCA1 account for between 20 percent and 25 percent of breast and ovarian cancers.
Both mutations disable the gene's intended purpose, to suppress cancer, making the carrier more likely to have cancer.
Because she carried the mutated gene, Toppen's risk of developing breast cancer ranged from 50 percent to 90 percent.
"I almost felt relieved," she said, recalling her reaction to the result. "I said, 'Where do I go from here?'"
She was given two options. She could take a hormonal treatment that could reduce her risk by half. Or she could have preventive surgery, leaving her with only a slight chance of developing breast cancer.
"I just said sign me up," Toppen said of the latter choice. She is relieved after her surgery. But the knowledge that the gene mutation runs in the family posed a dilemma for her 30-year-old daughter, Leslie Wolf of Fargo, who has a 2-year-old daughter and 2-month-old son.
Last fall, Wolf went in for genetic testing. The decision wasn't difficult.
"It was kind of a no-brainer for me to have the tests as well," she said. "I knew I had a 50-50 chance of getting it."
A couple of weeks later, she returned to the clinic to receive the results, accompanied by her parents and husband.
"The four of us found out together that I had it too," she said of her positive test result. Now, she goes to the breast clinic every six months for monitoring, with another six-month rotation of mammogram and MRI scans.
"We would like the opportunity to have more children, maybe," Wolf said. "For now, I'm doing the screenings."
'It's a big decision'
Lauryn LaPoint, Wolf's genetic counselor at Sanford, said she advises women like Wolf with a genetic risk of cancer to think about having preventive surgery around the age of 40, beginning to plan for it around the age of 35.
"For someone who is Leslie's age, it does create something of a dilemma," LaPoint said. "A lot of tough decisions are made."
LaPoint lays out the assessment of risks and the options for a patient. "There are some people who really don't want the information," she said. Once armed with the information, the patient must decide what, if any, steps to take.
"It's a big decision," Wolf said of her decision to have the surgery when the time is right. "It's an obvious choice. I think it's extremely powerful information. For me, I'd rather know than not know."
Her mother agrees. Even though she's had preventive surgery, she continues to be screened for cancer.
"We're kind of list makers," she said. If something needs to be done, they do it and check it off the list.
Genetic counseling, which starts with laboratory analysis of a blood sample, is increasingly becoming a part of cancer treatment and prevention. Essentia Health in Fargo also offers genetic counseling.
A genetic counselor helps to assess the risks of acquiring cancer, sets up a screening program, and helps to coordinate the patient's care.
It's estimated that 5 to 10 percent of all cancers are hereditary, whose cause can be pinpointed genetically, LaPoint said. Another 20 to 30 percent of cancers are familial—certain cancers tend to cluster in certain families for a variety of reasons, including shared genetics and environmental factors.
The remaining cancers are sporadic, and usually occur later in life, with environmental factors playing a large role, such as sun exposure and skin cancer. Because cells in the body continually divide, the risk of harmful mutations occurring increases with age.
"Which is why we say the biggest risk factor is age," LaPoint said.
The field of genetic counseling and genomic medicine is rapidly evolving, and costs of DNA testing continue to fall.
"Five to 10 years from now, I think we're going to know so much more than we do today," LaPoint said. "But today we know so much more than we did two years ago."