Meet the 'previvors': Women who have an increased risk for cancer

White Coat Black Art26:30Previvors: Part 1

The stories of two women who are cancer previvors. Both Jordyn and Anne had family members with breast cancer. Both got genetic testing and found out they too carried genes that gave them very high odds of getting cancer too. Both of these women decided to deal with the risk preemptively by having surgery.

It was a call Anne Jisca Meyer had been dreading.

Her sisterEmmhad breast cancer and underwent genetic testing to determine if it was related to a hereditary mutation.

She called Jisca Meyer to let her know that she had tested positive for PALB2, a genetic mutation that puts individuals at a higher risk for breast cancer.

"Even though that was not my result, it was hers, it was opening the door to 50 per cent chance that I have it as well. I already had five kids and I wish I'd known this before having five kids," said the stay-at-home mom from her home in Red River, Ont.

Jisca Meyer would later test positive for PALB2, marking the beginning of her journey as a "previvor."

It's a term that is increasingly used by those with a hereditary gene mutation that increases the risk of cancerbut who do not have cancer right now. Many previvors told CBC News that finding out you have an increased risk of a certain type or typesof cancercan be difficult.

Lauralyn Johnston, who lives in Toronto,remembers receiving the call from the genetic counsellor.

They confirmed she had an 87 per cent chance of breast cancer within the next five years and a 50 per cent chance of ovarian cancer over herlifetime due to her inherited variant of the BRCA1 gene mutation.

"All of a sudden you're then in this place of 'I don't have cancer right now, but I could anytime,'" she said.

Some opt for preventive surgery, while others may choose yearly screenings instead.

They don't represent the majority of cancer cases; less than one in 10 cancers are caused by a gene mutation passed down in a family, according to B.C. Cancer.

But the demand for genetic testing is high and growing. Wait times for genetic testing vary drastically among the provinces, with genetic counsellors saying some lower-risk individuals can wait up to three years or more for results.

"The reality is our public system is not able to meet the demand," saidLaura Palma, a certified genetic counsellor at McGill University Health Centre (MUHC) in Montreal in an interview withWhite Coat, Black Art host Dr. Brian Goldman.

No going back

Since she was a child, Jordyn Playne, 28, knew she could have a genetic mutation that puts her at a higher risk for breast and ovarian cancer.

Her mother had died of breast cancer when Playne was just two years old and after her death, Playne's father told her and her brother about the possibility of having a genetic mutation.

Her mother was never tested, but Playne has sevenaunts on her mother's side, fiveof whomhave tested positive for BRCA2, a genetic mutation that puts individuals at higher risk of breast and ovarian cancer.

So when it came time to get life insurance, Playne and her fiancdecided that she should get genetic testing done.

It was when she was on her lunch break at work that she got the call from a genetic counsellor informing her that she, too, carried the BRCA2 mutation.

She knew almost right away that she wanted to have a prophylactic double mastectomy.

"I wanted to kick cancer's butt before it ever had a chance to kick mine," Playne said from her home in Penetanguishene, Ont.

"I didn't want my dad to have to experience losing his wife to breast cancer and then having to watch his daughter navigate that. And so to me, it was one of the acts that I could do for myself, but alsofor the team around me that so tirelessly supported me in that journey."

For many previvors, once they received that call from a genetic counsellor confirming their inherited cancer risk, there was no going back.

Deborah Thaw, 52, found out she was a carrier of the BRCA2 mutation.

A few months later,during imaging before her surgery to remove her ovaries and fallopian tubes, they found kidney cancer.

Thaw, who lives in Oakville, Ont., had another surgery to remove half of her kidney. A few months after that, while having an MRIscan done before her double mastectomy, they found breast cancer.

"They described it to me as the cancer was so early that it was only found through an MRI," she said.

Now cancer-free,Thaw is thankful the cancers were found early.

"People hear my story and they go, 'Oh my God, that's terrible,'" she said.

"I feel blessed because I wouldn't have known any of this and in all likelihood, my kidney cancer probably would have progressed for years. They only found it through pre-op imaging because of BRCA."

The 'snowball effect'

Palma and other genetic counsellors say there was a spike in demand for genetic testing after celebrity Angelina Jolie wrote an opinion piece in the New York Times in 2013 detailing her previvor journey. The actress chose to have apreventive double mastectomyafter her mother died of cancer at age 56 she tested positive for the BRCA1 mutation.

The demand for testing spiked so much genetic experts have dubbed it "the Angelina Jolie effect."

Ten years later and the demand for testing is still high, with wait lists in many provinces.

"In a perfect world, we would see everybody within three to six months," said Palma.

"But there's not a centre in Canada where I think that is the case."

At Montreal's MUHC, Palma said the wait times for genetic tests can be anywhere from a few weeks to up to three years.

From the time of the referral to the disclosure of the genetic test results, "it can take anywhere from six to 12 months" for some patients at Hamilton Health Sciences, said laboratory genetic counsellor Laura Redondo.

At Nova Scotia's IWK Health Centre, which serves the Maritime provinces, those with the lowest likelihood of a mutation can wait up to three to four years for test results, said genetic counsellor Erin Chamberlain.

"It can vary quite a bit forthe different reasons for people coming through the service," she added.

LISTEN| The demand for genetic testing:

White Coat Black Art26:30Previvors: Part 2

Part two of our series on cancer previvors - the growing number of people who through genetic testing live knowing its highly probable that one day theyll get cancer.

On top of patient demand, there are also not enough genetic counsellors, Chamberlain said. There are five genetic counselling training programs in Canada, Palma said, with less than 40 genetic counsellors graduating each year.

There is also huge demand for genetic testing for the treatment of cancers.

"I could name a myriad of common cancers for which testing either of a tumour or testing the germline so the DNA in all the cells of the body is needed to guide medical management, whether that be for treatment purposes or surgical decision-making," Palma said.

With every new gene carrier identified, she says it creates a "snowball effect" as all of those previvors in that family could be interested in genetic testing.

"So we've sort of become the victims of our own success if you like," Palma said.

Wait varies from months to years

How long you wait for genetic testing in the public system depends on several factors.

Genetic counsellors in several provinces told CBC News that their clinic triages patients, ensuring those with the highest need for genetic testing get their results sooner.

The triaging protocol can vary from province-to-province and can vary from facility to facility even in the same province.

So that can mean people with less of an urgent need could wait months in some cases, years to get a genetic test done.

Lisa Barbosa, 43, was one of those people who waited years for genetic testing.

She waited seven years to get a genetic test done in Montreal, despite being concerned about her mother and grandmother's early diagnosis of breast cancer and breast and prostate cancer on her father's side.

She didn't get a genetic test through the public system until 2022 after she was diagnosed with breast cancer. That test showed she is a BRCA1 carrier.

Within six days of her diagnosis, she had a partial mastectomy and underwentchemotherapy treatment and radiation.

She would later have a prophylactic mastectomy and had her uterus and ovaries removed.

"[I'm] still angry that I couldn't do the genetic test earlier, even with the request from the doctor and all my history. That would [have] saved me so much," she said.

Previvors like Jisca Meyer and Playne encourage people to discuss genetic testing and to not be afraid.

Although she could have done yearly screenings after finding out about her genetic mutation, Jisca Meyer says she has zero regrets about her double mastectomy.

"I did not choose to have the genetic mutation and I freaking hate it, but I decided the outcome."