“I was living in fear”: Demand that genetic cancer testing be easier to get.
Beck Thomas, a 41-year-old mother of three, broke down in tears when she was told she should have a preventive mastectomy because she had a gene mutation that causes cancer.
But six months later, after talking to a counselor to make sure it was the best choice for her, she was in the hospital for the surgery.
Lee, her younger sister, was diagnosed with breast cancer at age 31, and the Melbourne woman just found out that she had a 50% chance of getting it too.
Now that she’s had the surgery and reconstruction, she says she feels “in control” of her future and doesn’t worry about the results of her annual MRI, mammogram, and ultrasound.
She said, “Every year when I was getting ready for my annual trifecta of imaging, I was so stressed out.”
Thomas’s grandmother died of breast cancer, so he supports a campaign to make it easier for people at risk to get checked.
Cancer charity Pink Hope is trying to get the testing criteria widened so that more people can get free tests if they want to.
To get testing paid for by the government, most people need to have been diagnosed with cancer or have two or more close relatives who have had it.
Pink Hope says that a new study by the medical genetics company Invitae found that up to two-thirds of Australian breast cancer patients with high-risk hereditary gene variants would not be able to get genetic testing right now.
“I think more people who don’t quite meet some thresholds should be able to get it,” Thomas said.
Thomas’s mother Jenny and his other sister Jaimie, who is 33, both have a gene mutation called PALB2 that can cause cancer. Her older sister Kristi, who was 21 at the time, died of brain cancer.
Thomas, her siblings, and her mother were all offered the test, but none of them thought they would all have the mutation.
She said, “I was the last one to get my results.”
“We all thought, ‘What are the chances that all of us will carry the mutation if we’re all tested?'”
In a few years, Thomas will also have to decide if she wants to have surgery to get rid of her ovaries.
Pink Hope says that about 1 in 20 women with breast cancer and about 1 in 7 women with ovarian cancer have a mutation in a known high-risk cancer gene that they inherited from their parents.
People who have the BRCA1 and BRCA2 genes have a 40–60% chance of getting breast cancer.
“Partner and Localiser of the BRCA2 gene” is what PALB2 stands for.
Researchers have found that people with this mutation have a 17% chance of getting breast cancer before they turn 50 and a 53% chance by the time they are 80.
A new mom will have a mastectomy
Ashleigh Hood, a 26-year-old new mom, also has a gene that causes cancer.
Her mother, Sanet, and other family members have all had breast cancer.
The Brisbane primary school teacher hasn’t decided yet to have surgery even though a test showed she has the BRCA2 mutation. This is because she is still breastfeeding her new baby, Layla.
It’s a plan for the future, though.
“For me, taking the test kind of just proved what I already knew. I was always afraid and worried about what could happen “she told me.
“Even though the result was positive, it gave me a lot more screening options, which was a relief.”
Sarah Powell, the CEO of Pink Hope, said that they want more people to be able to get a test paid for by the government if they want one, since many family members of cancer patients can’t get them.
They also want the process to be easier to understand, so they have created a new tool to help people understand the different kinds of genetic testing.
“Our organization’s goal is to give people the tools they need to get a genetic test as early as possible in their journey, when it’s still possible to avoid a cancer diagnosis,” she said.
“There is a very high requirement to get a genetic test paid for by the government, so many family members can’t find out if they are at a higher risk.”
Krystal Barter, who started Pink Hope, found out at age 22 that she had the BRCA1 gene and had surgery to prevent cancer.
About the same time, actress Angelina Jolie had surgery to lower her risk of cancer after finding out she had the gene.
A person from the Australian Health Department said that around 14,400 genetic test services were paid for with Medicare benefits worth $6.8 million in 2020-21.
It also said that it had given almost $3 million to Ovarian Cancer Australia for a program to find women with a high genetic risk of getting cancer who had not been tested for BRCA1/2 gene mutations before.
A spokesman said, “Medicare pays for a variety of genetic tests for people with breast and/or ovarian cancer when their doctor asks for them.”
