For Irene Gielen, it was better to know.
Her grandmother had died of breast cancer when she was 40. At 30, Gielen, who works in an oncology clinic, started advocating to her health care provider that she needed to start breast screening younger than the recommended age of 45.
Then, in December 2015, doctors found a tiny suspicious spot in her breast. Gielen decided to undergo genetic testing for any mutations she could have inherited that would heighten her risk for certain cancers.
A few weeks later, Gielen found out she was BRCA1 positive. It meant she had a hugely increased lifetime risk for cancer — around 60 percent for breast cancer and around 50 percent for ovarian cancer.
Her reaction was unexpected.
“I felt relief. Because I knew there was something,” Gielen said, recovering in her Vancouver home 17 days after an operation to remove her ovaries and fallopian tubes.
A guide to when you need genetic testing
Not everyone needs to undergo genetic testing. Current guidelines dictate that you should get tested for BRCA mutations if you have:
• A personal history of breast cancer diagnosed at a young age (premenopausal or younger than age 50).
• A personal history of triple negative breast cancer diagnosed at age 60 or younger.
• A personal history of breast cancer affecting both breasts (bilateral breast cancer).
• A personal history of both breast and ovarian cancers.
• A personal history of ovarian cancer.
• A personal history of breast cancer and one or more relatives with breast cancer diagnosed at age 50 or younger, one relative with ovarian cancer, or two or more relatives with breast or pancreatic cancer.
• A history of breast cancer at a young age in two or more close relatives, such as your parents, siblings or children.
• A male relative with breast cancer.
• A family member who has both breast and ovarian cancers.
• A family member with bilateral breast cancer.
• A relative with ovarian cancer.
• A relative with a known BRCA1 or BRCA2 mutation.
• Ashkenazi (Eastern European) Jewish ancestry, with a close relative who has breast, ovarian or pancreatic cancer at any age.
Source: The Mayo Clinic
“I have an answer, and I know what my game plan is going to be.”
That game plan involved four surgeries, and possibly a fifth. Gielen underwent a double mastectomy in 2016, followed up by two breast reconstruction surgeries. She had her tubes and ovaries removed in August, and plans to keep an eye on her uterus to see if a hysterectomy will eventually become necessary.
It’s a hard, draining process, both physically and emotionally, she said. But it was an easy decision. A mother of two teenage boys, Gielen is also studying to obtain her master’s degree from Gonzaga University and become a nurse practitioner.
She worries less about the future now.
“I think it was harder on my husband than it was on me. Because for him, it was the unknown. But I felt like I could handle it,” Gielen said.
Now 41, Gielen is adding to the growing chorus of patients, doctors and counselors who are advocating for genetic testing as a tool to gauge cancer risk. Genetic tests arm people with the information to make potentially difficult but necessary choices about their health — ideally, before they become a cancer patient.
Know your mutations
BRCA1 is one of many genetic mutations linked to an increased risk of cancer.
There are more than 1,000 mutations being studied, but only 35 have been solidly linked to an increased risk of cancer. Of those, BRCA1 and BRCA2 are most common, making up about half of breast cancer cases traced to a genetic mutation.
Women with an altered BRCA1 gene have a 50 percent to 85 percent risk of developing breast cancer by age 70, and their risk of developing ovarian cancer is 40 to 60 percent by age 85. For BRCA2, the breast cancer risk is the same, though the risk of ovarian cancer is lower, at 16 percent to 27 percent.
Other less common mutations are also linked to breast cancer — PALB2, PTEN, CDH1, and dozens of others make up an alphabet-soup’s worth of potential markers of increased risk.
However, the vast majority of breast cancer cases aren’t linked to any identified mutation. Genetics only account for between 5 percent and 10 percent of breast cancer cases, as far as we know. But it’s a rapidly changing body of research, said Dr. Gina Westhoff, a Vancouver oncologist specializing in gynecology.
“What we’re seeing now are that the number of genes being discovered are being better characterized, regarding how much risk they are,” Westhoff said. “More and more genes are being added to the list where we should be offering risk-reducing surgery.”
The pros and cons of risk-reducing surgeries, like the ones undergone by Gielen, depend on a combination of variables. How high is the risk? How old is the patient? What’s the family history? What kind of cancer is the patient at risk for? Is it an easily identifiable cancer like breast cancer, or something like ovarian or pancreatic cancer, that can’t be caught early with consistent screening?
Each year, more than 200,000 women in the U.S. are diagnosed with breast cancer, including thousands of women in Washington. In honor of their fight — and as part of National Breast Cancer Awareness Month — The Columbian published this collection of stories about the women who have received breast cancer diagnoses, the science and technological advances for treating them and the community that supports them.
It’s a dizzying decision. Westhoff strongly feels that any decision requires a guide, preferably one with a medical degree, to help patients sift through all the competing factors. Legacy Health is adding a specialized genetic counselor, Dr. Therese Tuohy, to its staff this year to do just that.
Once upon a time, genetic tests cost thousands of dollars and could only be ordered by a health care provider. But that’s changing, fast.
“What is new is our ability to massively sequence DNA in a very quick and cheap way,” Westhoff said. “Now, it’s so much easier for people to get tested, because the test is cheap.”
Genomes for all
“There are parts of all of us yet to be discovered,” declared a recent commercial for 23andMe, a popular genetic testing company. “And through our DNA, we are all connected.”
Seemingly overnight, 23andMe became the choice for direct-to-consumer genetic testing, with viral videos of people discovering facts about their heritage, ancestry and health snagging millions of views. The company got an additional boost last year, when it became the first direct-to-consumer testing company approved by the Food and Drug Administration to test for 10 genetic mutations linked to certain diseases.
A 23andMe kit for health and ancestry costs around $200. The sample can be collected in your home, with results sent via mail.
Both Westhoff and her colleague, Dr. Cory Donovan, an oncology surgeon focused on breast health, agree that the democratization of genetic testing is a double-edged sword.
On the one hand, Donovan said, widespread genetic testing is “bringing out a conversation about our families. I feel like people should be talking with their families about who had what, and when. That, I think, is way more valuable.”
“I had a patient who recently found out that her cousin had a genetic mutation, and then she found out she had breast cancer. And she would never had been screened if she had never found out about her cousin,” Donovan continued.
But there are definite concerns about the false sense of security that can come with a genetic test, especially one that doesn’t require any kind of professional counseling to obtain. For instance, 23andMe has been approved to screen for three mutations linked to breast cancer, but none of them are for the most common red flags. The test screens for a series of rarer mutations, usually found in people with Ashkenazi Jewish ancestry.
“If you didn’t know you had Ashkenazi Jewish heritage, if you found out you had one of these mutations, that could be really life-altering and important, and I don’t think that information should be necessarily curtailed. But what’s important for people to understand is that’s only three of very many mutations we know on BRCA1 and 2,” Donovan said.
“What I worry about is that people get tested by 23andMe, have a negative test result, and say, ‘I’m safe. Done. I’m not at risk for breast cancer, I’m not going to get my screening, why would I bother?’ ”
Westhoff said there are other genetic panels patients can order through their doctor that are more comprehensive. Those, too, tend to be relatively affordable, and can give a more complete picture of a person’s genetic makeup. But there’s still plenty we don’t know.
“All genetic testing, you can be falsely reassured, because we only can test for what we understand right now,” Westhoff said. “Even the bigger panels, we don’t understand all the genes very well and what the magnitude of risk is, so we don’t know what to do with that information.”
There’s another concern, too, linked to privacy.
Genetic testing results go into a national database, and insurers can access that data to guide their decisions on who to cover.
“Health insurance, we have the protection currently (under) the Affordable Care Act. You can’t be charged more or dropped off health insurance based on any pre-existing conditions, and cancer genetic mutations are considered pre-existing conditions,” Westhoff said.
But for life insurance and disability insurance, no such protection exists.
That shouldn’t scare patients off of getting tested if they’re concerned about their family history — objectively, getting cancer is worse than being denied life insurance, Westhoff pointed out — but it’s one of many factors to consider. And it’s a count against testing everyone, for everything, regardless of their family history.
“The biggest barrier to implementing universal testing for everyone, and the biggest barrier to you ordering the test on yourself today, is there is absolutely no protection in disability and life insurance discrimination,” Westhoff said. “Every person I test, I talk to them about those risks, and I say, you just have to go in eyes wide open.”
Irene Gielen saw Westhoff for a post-op checkup on Sept. 21. The appointment cleared her for a Sept. 24 return to work, where she cares for patients at the Legacy Cancer Infusion Clinic, a cancer clinic on Northeast 87th Avenue.
Her medical training prepared her for becoming a patient, she said. At the checkup, she sat side-by-side at the computer with her nurse, poring over the details of her condition.
Becoming a patient has also made her a better health care provider, she said. Having been on both sides of the process, she can empathize.
“Address the emotional aspect with the patient. Let them know you’re here for them,” Gielen said. “Having that experience made me a stronger caregiver.”
The emotional side of being a patient, though, was still a gut-punch. In particular, Gielen said the decision to remove her breasts meant cutting off a part of her identity. Reconstruction was excruciatingly painful.
“It does not prepare you,” she said. “I felt like I went through a complete emotional loss at that time. You lost what you had identified to you. I felt the same way about my ovaries, but not so much. This had more impact.”
Despite that, Gielen has zero regrets. The eldest of 10 siblings, she convinced all of her sisters to get tested for a BRCA mutation. They all tested negative.
“Women in general, we’re very strong people, very strong inside physically, mentally, cognitively, spiritually,” Gielen said. “Just like I told my sisters — if there’s any kind of doubt, you do need to go get tested.”