Genetic Testing Helps Understand Breast Cancer Risks

ThedaCare Genetic Counselor Explains Testing Opportunities

October 27, 2020

APPLETON, Wis. – With one in eight women in the U.S. developing breast cancer over the course of their life, health care systems, along with the American Cancer Society, the National Cancer Institute and others, are strongly focused on reducing the incidence of the disease.

“A key to recovery from breast cancer, and most cancers, is early detection,” said Bobbi McGivern, MS, a certified genetic counselor at ThedaCare Regional Cancer Center in Appleton. “Genetic testing is one tool that can help a person better understand their potential risk of developing certain cancers, breast cancer in particular.”

McGivern wants people to understand capabilities of genetic testing.

“One of the misconceptions about genetic testing is that it can give people a definite answer of whether or not they will develop cancer,” she explained. “It’s not able to do that. Rather, it can estimate their probability of getting cancer and whether someone is at high-risk or low-risk, which can determine what cancer screening protocols they should follow.”

ThedaCare offers genetic testing and counseling at the Regional Cancer Center in Appleton. Recently it increased its staff to include three genetic counselors and three genetic counseling assistants.

“We are hoping to better accommodate the demand and need for genetic testing in our communities,” McGivern said. “Previously we have had a waitlist for patients to see us. In the past couple of years the awareness of and demand for genetic testing has increased exponentially.”

She said one of the reasons for the increase is that the cost of genetic testing has gone down significantly. McGivern added that most insurance companies have also established criteria for when genetic testing will be covered, which frequently takes a patient’s health history and family history into consideration.

“Now, with the cost of testing lowered, out-of-pocket expenses are significantly less than before, which makes it possible for some people to pay for the testing on their own, if they choose to be tested” she said.

While doctors make most of the referrals to the ThedaCare Genetics Clinic, individuals can self refer if they have health concerns about a significant family history of cancer. The Clinic can be reached by calling 920.364.3600 or 844.510.3600.

Family History Doesn’t Mean Cancer is Inevitable

McGivern said that a strong family history of breast cancer doesn’t necessarily mean a woman is going to be at higher risk of developing the disease.

“The role of genetic testing and genetic counseling is to put together information about a patient’s personal history and their family history, offer the option of genetic testing and basically give the patient a better understanding of what his or her chances are of developing cancer in their lifetime,” she said. “Obviously, if somebody has a 70 to 80 percent chance of getting breast cancer per genetic testing and family history, you’re going to screen and monitor them much differently than someone who has only a 10 to 12 percent risk. That’s how genetic testing can help personalize health care.”

McGivern noted that personalizing health care is currently a major focus throughout the ThedaCare system.

“We are focused on Population Health, understanding each person’s unique medical background, risks, lifestyle, personal values and goals,” she explained. “With that information, we work to empower patients and the community with comprehensive care, programs and services to improve their health and wellbeing.”

For example, she said body mass index (BMI), or obesity, plays a significant role in breast cancer risk, as does hormonal history – such as when a woman started having her periods, if she had any children, if she’s been through menopause and if there was hormone supplementation.  

“We also consider family history, which is extremely important,” said McGivern. “If you’ve had a mother and a sister who have had breast cancer, that’s going to be a significant risk factor for you, even if you don’t have any genetic abnormalities such as with the BRCA1 and BRCA2 genes.”

BRCA1 and BRCA2 are genes that, if mutated, can increase the risk of breast or ovarian cancer for a woman. McGivern noted a number of genes are tested when looking for a tendency toward breast cancer and other cancers.

“For those who have a strong family history of breast cancer, it becomes a personal decision as to when to consider genetic testing,” McGivern said. “For younger women who have grown up with a high incidence of breast cancer in their family – maybe they have seen relatives who are in treatment or have passed from breast cancer – those women often come in at a younger age, say 20 to 25. They may not need or want to do anything at that age, but they want more information about their probability of developing cancer.”

For others, they may consider testing at a later age.

“Around age 40 is the standard age to begin breast screening,” said McGivern. “Sometimes people don’t come in until their doctor thinks maybe they should be doing a mammogram earlier or perhaps have an MRI scan in addition to their mammogram because of their personal or family history.”

She noted its important patients know when family members developed cancer.

“If there are people in your family who were diagnosed with breast cancer at age 40, for example, then you shouldn’t wait until 40 to start your screening,” she explained. “You might be eligible for early mammograms or MRI screening in your thirties because of that family history. Knowing the ages of diagnosis, or at least an estimate, can determine when you should start your own breast cancer management. That’s something a woman should be discussing with her primary care provider, OBGYN or oncologist. If they have concerns, they can refer you to our genetics clinic for further assessment.”

What’s Involved in Genetic Testing?

McGivern explained that genetic testing is a relatively simple procedure. For all genetic testing, the patient must be at least 18 years of age.

“The first thing we have the patient do is complete a detailed Genetic Risk Assessment,” she said. “It’s important for patients to gather as much family history as possible, again especially the ages at which family members were diagnosed. We capture that information and then the patient comes in for a consultation, at which time we may do a DNA test. That can be either a saliva sample or a small blood draw, though with COVID-19 we’re currently not doing saliva samples. It usually takes a couple of weeks for the results to come back, and then we sit down with the patient and interpret their results and give them a personalized risk assessment for their probability of developing specific types of cancer.”

She noted that it’s important that people realize they can test negative for genetic abnormalities, but they might still have personal or family history risk factors that put them at higher risk for breast cancer.

When someone’s genetic tests show a higher probability of developing cancer, the ThedaCare genetic counselors are prepared to help.

“We can provide emotional support, and resources, including behavioral health counseling if they need additional help when coping with a difficult result,” she said. “On the clinical side, we also have the medical knowledge to outline a management plan for them. We’re able to recommend what testing they need to be doing and how often. Our role, in addition to providing the emotional support and resource connections, is to discuss the spectrum of options available to them and help them decide what management plan is best for their situation.”

She noted the options for those at high risk for developing breast cancer include standard mammogram, 3D mammogram, breast MRI scans and medications that can potentially lower the risk of developing cancer. For extremely high-risk women, there are surgical options, including preventative mastectomy where someone could have breast tissue removed so that it doesn’t become cancerous.

“Genetic testing is an amazing tool to help people assess their health risks and, from there, plan how to address their health needs and adjust their lifestyle, if necessary,” said McGivern. “It also can inform other family members of possible risks. If a genetic abnormality is identified in a person, now it’s not just about that person; it’s about their entire family. That can include parents, siblings, cousins and other relatives. With greater knowledge, patients working with their medical providers can truly plan a better approach to their individual health care needs.”