Genetic Testing Empowers Patients to Take Critical Preventive Measures
One in eight women in the U.S. develop breast cancer over the course of their life. But with the help of genetic testing, 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.
Genetic Testing Capabilities
A key to recovering from breast cancer, and most cancers, is early detection. Genetic testing is one tool that can help a person better understand their potential risk of developing certain cancers, breast cancer in particular.
“One of the misconceptions about genetic testing is that it can give people a definite answer of whether or not they will develop cancer,” said Bobbi McGivern, MS, a certified genetic counselor at ThedaCare Regional Cancer Center in Appleton. “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.”
Availability and Cost
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.”
One reason for the increase is the reduced cost of genetic testing. 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.
Family History
It’s important to note, a strong family history of breast cancer doesn’t necessarily mean a woman is going to be at higher risk of developing the disease.
“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.”
Age 40 is the standard age to begin breast screening, although it’s common for people to pursue a mammogram earlier at the suggestion of their doctor or due to family history. It is important for patients to know the age(s) at which their 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.”
As a healthcare system focused on Population Health, having tools like genetic testing to help understand each person’s unique medical background, risks, lifestyle, personal values and goals is critical. It allows ThedaCare to continue empowering patients and the community with comprehensive care, programs and services to improve their health and wellbeing.
“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.”
Beyond family history, body mass index (BMI) plays a significant role in determining 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. Mutated genes, especially BRCA1 and BRCA2, can also lead to increased risk of breast or ovarian cancer for women.
What to Expect
For all genetic testing, the patient must be at least 18 years of age. The procedure itself is relatively simple:
- The patient completes a detailed Genetic Risk Assessment, providing as much family history as possible, including the ages at which family members were diagnosed.
- A patient consultation takes place, which may include a DNA test administered through a saliva sample or blood draw. (Note: Saliva samples are not being collected during COVID-19)
- The results are received a few weeks later, and the patient is provided with a personalized risk assessment for their probability of developing specific types of cancer.
Designing a Care Plan
Even if someone tests negative for genetic abnormalities, they might still have personal or family history risk factors that put them at higher risk for breast cancer. When results indicate 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.”
Options for those at high risk for developing breast cancer include:
- Standard mammogram
- 3D mammogram
- Breast MRI scans
- Medications that can potentially lower the risk of developing cancer
For extremely high-risk women, there are surgical options, including a preventative mastectomy where breast tissue can be removed so 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.”
If your doctor has referred you to the ThedaCare Genetics Clinic, or if you have health concerns about a significant family history of cancer, please call 920.364.3600 or 844.510.3600 to learn more about our genetic testing options.
