For cancer patients, genetic testing can reveal further risks and and improve early detection
By Lauren Glendenning
Brought to you by St. Anthony Summit Medical Center
One of the most common misconceptions about breast cancer is that women with no family history of it face a much lower risk.
“If you’re a woman with breasts, you’re at risk,” said Jette Hogenmiller, PhD, family nurse practitioner and oncology nurse practitioner at St. Anthony Summit Medical Center in Frisco.
But women with mutations of the BRCA1 and BRCA2 genes are at a considerably higher risk for breast and ovarian cancers. That’s why physicians at St. Anthony are referring high-risk patients to the hospital’s genetic counseling program that aims to find carriers of the mutations.
“In normal cells, these genes help prevent cancer by making proteins that help keep the cells from growing abnormally,” according to the American Cancer Society. “Mutated versions of these genes cannot stop abnormal growth, and that can lead to cancer.”
Women who carry the BRCA1 mutation have about a 55 to 65 percent chance of developing breast cancer, while those carrying the BRCA2 mutation have about a 45 percent chance. About 12 percent of women in the general population will develop cancer in their lives, according to the National Cancer Institute.
Women with the BRCA1 and BRCA2 mutations have a 39 percent and 11 to 17 percent chance of developing ovarian cancer, respectively, compared to a 1.3 percent chance for all women without the mutations.
The BRCA1 and BRCA2 genes account for 5 to 10 percent of all breast cancers, and about 15 percent of ovarian cancers, according to the National Cancer Institute. While all people carry the genes, only those with mutations face significantly higher cancer risks.
Nationally, about 25 percent of the patients at risk of carrying these genetic mutations aren’t being referred to genetic counseling, said Dr. Irina Dimitrova, a gynecologic oncologist with Centura Health, which includes St. Anthony Summit Medical Center.
“We’re educating women, not only about genetic testing and when it’s appropriate, but overall lifestyle changes they can implement to impact their health,” she said. “I think we as a society have not done very well on this. Within the entire medical community, patient education has to be a focus.”
Physicians in the Centura Health system refer all patients with ovarian cancer and some with breast cancer, as well as those with a strong family history of those cancers, to genetic counselors, said Jeanine Ashley, one of five certified genetic counselors in the Colorado Centura Health system.
Health care providers in the Centura Health system refer all patients with either breast or ovarian cancers to genetic counselors.
Counselors obtain as much family history information from patients as possible so they can refine whether or not they should pursue certain genetic tests, Ashley said.
“A good portion (of the counseling) is spent in education,” she said. “We discuss what the benefits of this type of testing are, and what the limitations are.”
Ashley said some patients determine that they’d rather not know if they’re at an increased risk for cancer. Because there are chances for ambiguous test results, referred to as “variants of uncertain significance,” it’s hard for some patients to understand and prepare for what’s coming, she said.
“It’s also possible for people to have positive results that indicate a risk for other cancers,” she said. “That can be really difficult for people to digest, as well.”
Patients who might show a high risk of having these mutations but choose not to get genetic testing have other options. Ashley said counselors can run other risk analyses without the genetic testing to determine if patients qualify for additional medical interventions.
For those who do choose to go through with the tests — Ashley said the vast majority of referred patients do — and discover they carry these dangerous mutations, the chances of preventing or catching cancers earlier on become much higher. Treatment and preventative options also change once the mutations are discovered, and family members of patients with the mutations can also pursue tests and preventative measures.
In high demand
Patients with these genetic mutations are then offered all treatment options, from medications to more extreme procedures such as mastectomies or removing fallopian tubes and ovaries, Dimitrova said. And on the preventative side, once mutations are identified in a patient, doctors can discover cancers earlier with more intensive screening, Hogenmiller said.
While genetic counselors are in high demand due to evolving technologies, Dimitrova said there aren’t nearly enough of them working in the state.
“We are very understaffed when it comes to genetic counselors,” Dimitrova said. “There are not a lot of them, their services are not well reimbursed (by insurance) and it’s not an easy job. The way this field is exploding right now, they’re under a huge load of work and they need to constantly know more and update their knowledge on an ongoing basis.”
Ashley said the field is expanding, but because counselors must go through clinical rotations as part of their education and certification, it can only grow so fast.
Regardless of genetics, women should follow healthy lifestyles in order to further reduce cancer risks, Hogenmiller said. Following a healthy diet, maintaining a healthy weight and exercising regularly are all beneficial to overall health, including cancer risks.
“We can’t treat our bodies recklessly and think that our DNA and genes are going to be happy little campers,” she said.
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