Breaking the code on breast cancer risk

For Irene Gielen, it was better to know.

At the age of 40, her grandmother had died of breast cancer. At age 30, Gielen, who works in an oncology clinic, began pleading with her health care provider that she needed to start breast cancer screening sooner than age recommended.

Then, in December 2015, the doctors found a small suspicious spot in his chest. Gielen decided to undergo genetic testing to detect any inherited mutations, which would increase her risk of developing certain cancers.

A few weeks later, Gielen discovered that she was positive at BRCA1. This meant that her cancer risk during her life was significantly increased – about 60% for breast cancer and about 50% for ovarian cancer.

His reaction was unexpected.

"I felt relieved. Because I knew there was something, "said Gielen, recovering at her home in Vancouver 17 days after an operation to remove her ovaries and fallopian tubes.

"I have an answer and I know what will be my game plan."

This game plan involved four surgeries, or even a fifth. Gielen underwent a double mastectomy in 2016, followed by two breast reconstruction surgeries. Her fallopian tubes and ovaries were removed in August and she plans to monitor her uterus to see if a hysterectomy will eventually become necessary.

It's a difficult and exhausting process, both physically and emotionally, she said. But it was an easy decision. A mother of two teenagers, Gielen also studies to obtain her master's degree at Gonzaga University and to become a nurse practitioner.

She worries less for the future now.

"I think it was harder for my husband than for me. Because for him, it was the unknown. But I felt that I could cope with it, "Gielen said.

Now 41, Gielen adds to the growing crowd of patients, doctors and advisers who advocate the use of genetic testing to measure cancer risk. Genetic testing provides people with the information they need to make potentially difficult but necessary choices about their health, ideally before they become cancer patients.

Know your mutations

BRCA1 is one of many genetic mutations linked to an increased risk of cancer.

More than 1,000 mutations are under study, but only 35 have been securely linked to an increased risk of cancer. Of these, BRCA1 and BRCA2 are the most common, accounting for about half of breast cancer cases attributed to a genetic mutation.

Women with impaired BRCA1 gene have a 50 to 85% chance of developing breast cancer at age 70, and their risk of developing ovarian cancer is 40 to 60% at age 85. For BRCA2, the risk of breast cancer is the same. the risk of ovarian cancer is lower, between 16 and 27%.

Other less common mutations are also related to breast cancer – PALB2, PTEN, CDH1 and dozens of others are a potential value of an increased risk marker for the alphabet.

However, the vast majority of breast cancer cases are not associated with any identified mutation. Genetics only accounts for between 5 and 10% of breast cancer cases, to our knowledge. Research is evolving rapidly, said Dr. Gina Westhoff, a Vancouver-based oncologist who specializes in gynecology.

"What we're seeing right now is that the number of genes discovered is better characterized, in terms of their degree of risk," said Westhoff. "More and more genes are added to the list where we should offer risk-reducing surgery."

The advantages and disadvantages of risk-reducing surgical procedures, such as those faced by Gielen, depend on a combination of variables. What is the risk? How old is the patient? What is the story of the family? What type of cancer is the patient exposed to? Is it an easily identifiable cancer, such as breast cancer, or cancer of the ovary or pancreas, that can not be detected early with routine screening?

It's a dizzying decision. Westhoff strongly believes that any decision requires a guide, preferably a medical graduate, to help patients examine all the competing factors. Legacy Health is adding a specialist genetic counselor, Dr. Therese Tuohy, to its staff this year.

Once upon a time, genetic testing cost thousands of dollars and could only be ordered by a health care provider. But that changes, quickly.

"What's new is our ability to massively sequence DNA very quickly and economically," said Westhoff. "Now it's so much easier for people to get tested, because the test is cheap."

Genomes for everyone

"We still have to discover parts of us all," said a recent ad for 23andMe, a highly regarded genetic testing company. "And through our DNA, we are all connected."

Apparently, overnight, 23andMe has become the preferred choice for consumer genetic testing, with viral videos showing people discovering facts about their heritage, ancestry and health capturing millions of views. The company benefited from a boost last year, becoming the first consumer direct testing company authorized by the Food and Drug Administration to test 10 genetic mutations related to certain diseases.

A 23andMe kit for health and ancestry costs around $ 200. The sample can be collected from you and the results sent by mail.

Westhoff and his colleague Dr. Cory Donovan, a breast cancer oncology surgeon, agree that democratizing genetic testing is a double-edged sword.

On the one hand, said Donovan, widespread genetic testing "spark debate about our families. I think people should talk with their families about who and what. I think it is much more valuable. "

"One of my patients recently discovered that her cousin had a genetic mutation, and then she learned that she had breast cancer. And she would have never been examined if she had never discovered the existence of her cousin, "Donovan continued.

However, the false sense of security associated with a genetic test raises serious concerns, particularly a test that does not require any type of professional advice. For example, 23andMe has been authorized to screen for three breast cancer-related mutations, but none of them relate to the most common red flags. The tests allow to detect a series of rarer mutations, usually seen in people of Ashkenazi Jewish descent.

"If you did not know that you had the Ashkenazi Jewish heritage, if you learned that you have one of these mutations, it could really change your life and be important, and I do not think that this information need to be reduced, but what is important to understand is that these are just three of the very many mutations we know about the BRCA1 and 2 genes, "said Donovan.

"What worries me is that people get tested for 23andMe, get a negative test result and say," I'm safe. Completed. I'm not at risk of breast cancer, I will not be tested, why bother? "

Westhoff said that there are other more comprehensive genetic panels that patients can order from their doctor. These too tend to be relatively affordable and can give a more complete picture of a person's genetic heritage. But there are still many things we do not know.

"All genetic tests can be falsely reassured because we can test only what we currently understand," said Westhoff. "Even the largest panels do not fully understand all the genes and the extent of the risk, so we do not know what to do with this information."

There is also another privacy concern.

The results of genetic testing are recorded in a national database, and insurers can access this data to guide their coverage decisions.

"Health insurance, we currently have protection (under) the Affordable Care Act. You can not pay more money or deposit health insurance on the basis of pre-existing conditions, and genetic mutations of cancer are considered pre-existing conditions, "said Westhoff.

But for life insurance and disability insurance, such protection does not exist.

This should not deter patients from getting screened if they care about their family history – objectively, contracting cancer is worse than being denied life insurance, Westhoff said – but it's one of many factors to consider. And it's a countdown for everyone, no matter what their family's story is.

"The biggest hurdle to setting up universal tests for all, and the biggest hurdle to ordering the test for you today, is that there is no protection against the discrimination in disability and life insurance, "said Westhoff. "Every person I test, I talk to them about these risks, and I tell them that you just have to keep your eyes wide open."

Eyes open

Irene Gielen consulted Westhoff for a postoperative check up on September 21st. This appointment allowed him to return to work on September 24th. She cares for patients at the PeaceHealth Southwest Infusion Center, a cancer clinic located northeast of 87th Avenue.

Her medical training prepared her to become a patient, she said. On examination, she sat side by side in front of the computer with her nurse, examining 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 show empathy.

"Addresses the emotional aspect with the patient. Tell them you are there for them, "said Gielen. "This experience has made me a stronger helper."

The emotional side of being a patient, however, was always a blow. In particular, Gielen said the decision to remove her breasts meant cutting off some of her identity. The reconstruction was extremely painful.

"It does not prepare you," she says. "I felt like I had gone through a complete emotional loss at that time. You lost what you had identified. I felt the same for my ovaries, but not so much. This had more impact. "

Despite this, Gielen has no regrets. The eldest of 10 siblings, she convinced all her sisters to be tested for a mutation in the BRCA gene. They have all been tested negative.

"Women in general, we are very strong people, very strong physically, mentally, cognitively, spiritually," said Gielen. "As I told my sisters – if in doubt, you have to be tested."