Knowledge is Power
In 2019, Alison Hertle received some frightening news: She has a genetic variant that increases the chances she’ll develop breast or gastrointestinal cancer.
Hertle had always worried about her risk. Her mother and sister both died from breast cancer, and two brothers and her father also lost their lives to cancer.
So Hertle talked to her doctor and received a referral for genetic testing – which involved just a simple blood test -- at University of Vermont Medical Center’s Cancer Genetics and Prevention Program.
“I was shocked at first, because I realized [the positive result meant] I could get cancer,” Hertle admits. “But then I had feelings of calmness and peace because I knew I was in the right hands. I knew the doctors were going to watch me and make sure I have the right testing done at the right times.”
'Treatable and survivable'
Since finding out about her genetic predisposition to the disease, Hertle has had three appointments every year: a mammogram in the spring, an MRI in the fall and a visit with a medical oncologist in November. It’s all part of the plan that many patients who test positive go through.
“The idea is that we’re either going to catch cancer early, when it’s very treatable and survivable, or we’re going to try and prevent it all together,” says Wendy McKinnon, a genetic counselor with UVM Cancer Center.
A positive genetic test can impact the health of more than just the patient. According to McKinnon, there is a 50/50 chance that first-degree relatives, including children, siblings and parents, will have that same genetic variant. McKinnon suggests family members of those who test positive get tested, too.
So far, two of Hertle’s daughters and a niece have been tested. One daughter does not have the gene, but the other does, as does a niece. The niece is now getting screened regularly.
Testing Does Not Equal a Diagnosis
McKinnon stresses that a positive test does not guarantee you or a family member will get cancer.
“For example, if a woman carries a mutation in one of the two genes associated with most hereditary breast and ovarian cancers, she has somewhere between a 50% and 80% chance of developing breast cancer in her lifetime,” says McKinnon. “It’s not 100%. But the general-population risk is about 10% to 12%, so that’s a pretty dramatic increase.”
Most genes are not quite so predictive. “Other genes we deal with mean a very slightly increased risk,” McKinnon notes. “A variant might push the risk up to 20% from 10%. That means that well over half of people who have that genetic mutation likely will never get cancer. So, it really depends on the gene.”
Other factors can weigh in to your risk: environment and lifestyle, for instance. Overall, about 10% of most cancer types are due to an inherited gene mutation.
“So, I don’t want to alarm anyone. Biology is not destiny. Just because you have an inherited gene with increased cancer risk, it does not mean you’re going to get the disease. But getting tested now gives you a powerful tool to either prevent cancer altogether or catch it early,” McKinnon explains.
Genetic Testing Can Be for Those Who Already Have Cancer, Too
Several factors make someone a good candidate for genetic testing. According to McKinnon, it is generally recommended that, when possible, genetic counseling and testing begin with a family member who has had cancer.
Genetic results can help determine the best course of treatment and can qualify patients for potentially beneficial clinical trials.
About half of the 1,500 patients enrolled in the program have been diagnosed with cancer, says McKinnon.
“Knowledge is power. Understanding the risk can lead to more people getting tested, more screening and more preventative measures,” she says. “All of that potentially gives generations of people a better chance to beat the disease or avoid it all together.”
Who Should Consider Genetic Testing?
Anyone diagnosed with the following cancers should consider genetic testing to determine if there is an inherited genetic change that could help decide the optimal treatment:
- Triple-negative breast cancer.
- Breast cancer before age 50.
- Colorectal cancer before age 50.
- Metastatic prostate cancer.
- Male breast cancer.
She also recommends that those with the following personal- or family-medical histories consider consulting with a genetic counselor to determine if genetic testing may be appropriate for them:
- A family member with a known inherited genetic mutation that increases cancer risk.
- A diagnosis of cancer at a young age.
- Multiple cancer diagnoses in the same person.
- A diagnosis of cancer in multiple family members, especially first-degree relatives with the same type of cancer, family members with breast or ovarian cancer or family members with colon cancer and endometrial cancer.
- A diagnosis of cancer in both organs in a set of paired organs, such as both kidneys or both breasts.
Hope for the Next Generation
Because of rapid advances over the past decade, cancer genetics specialists now have better tools for testing and a better understanding of which families may benefit.
Hertle has to fight back tears when she thinks about the opportunities she and her children and nieces have that weren’t available when her parents and siblings were sick.
“I do have to say, I feel a little guilty. I get very emotional about this, because I have that power and knowledge that they didn’t have. They all basically found out when it was stage four. If they had genetic testing and were being tracked closely like I am with the screening, their cancers could have been found much earlier,” Hertle says.
“But I know if any of them could be here today, they’d want all of us to get tested. They’d want all of us to have the best chance possible to beat cancer. So that’s what I’m doing, and I hope others will do the same.”
