Genetic testing helped one mom fight breast cancer early

September 26, 2024

Providence Cancer Team

[4 MIN READ]

Genetic testing helped a California mom of three catch breast cancer early.
The mom was flagged by an online questionnaire through Providence’s CARE program, which identifies women who meet breast cancer genetic testing criteria and calculates their lifetime risk of developing the disease.
Women who have had genetic testing for breast cancer in the past may benefit from additional testing today because of advances in technology.

Michelle Jackson started getting annual mammograms when she was 32. Her mom had breast cancer at a young age, but because her mom had also tested negative for the BRCA1 and BRCA2 genes, Jackson never considered herself to be at an increased risk for the disease.

Ten years later, though, Jackson underwent a double mastectomy to remove both breasts and significantly reduce her breast cancer risk.

Why? A simple saliva test told her that she had a gene mutation — one other than BRCA1 or BRCA2 — associated with a higher risk of breast and other cancers.

The news shocked her. “It led me down a life-changing path,” she recalls.

Prioritizing prevention

Jackson had gone for her routine mammogram in November 2020 at Providence St. Jude Medical Center in Fullerton, California. But for the first time since she’d started getting mammograms, she was also offered an opportunity for genetic testing — and told she was identified as someone who would benefit from it.

Although Jackson’s mammogram results were normal, she was flagged for genetic testing through a new program, called CARE, that launched that year at all Providence Orange County genetics programs. CARE prompts women coming in for their yearly mammogram to fill out an online questionnaire beforehand.

The questionnaire, generated by technology using artificial intelligence (AI), collects information about a woman’s personal and family history of cancer. It then compares those responses to genetic testing criteria established by the National Comprehensive Cancer Network to determine if they qualify.

Jackson learned she could either visit the genetic walk-in clinic that same day to provide a saliva sample for genetic testing, schedule an appointment with a genetic counselor, or return to the walk-in clinic on another day.

Genetic testing looks for inherited genetic changes that can increase your risk for cancer or certain other diseases. It’s performed using either a blood sample or, as in Jackson’s case, a saliva sample.

“I was actually not going to do it because I was in a hurry and didn’t think there was anything I would find out given that my mother was negative for the BRCA genes,” Jackson says. “However, I ended up calling back later that day out of curiosity and a nudge from my husband, and I am so glad that I did.”

After providing a saliva sample, Jackson learned she had the CHEK2 genetic mutation, which increased her risk for multiple types of cancer, but especially breast cancer. A genetic counselor reviewed Jackson’s test results and advised her to have a breast MRI six months after her mammogram. Jackson also met with her doctor, who helped guide her through the steps to create a schedule for recommended high-risk screenings.

When Jackson went for her first breast MRI, it detected a suspicious spot. A biopsy identified the spot as cancer.

“That’s when it went from high risk to reality,” she says. “I did get a biopsy, and I did have breast cancer.”

Jackson’s cancer was early stage — what’s known as stage 0 breast cancer. Stage 0 breast cancer is cancer that’s limited to the inside of a breast’s milk duct and doesn’t invade nearby tissue.

Still, “It was a huge surprise, and the thought that there might be a possibility of not being around for my three young boys (at the time, ages 9, 5 and 2) was terrifying,” Jackson says. “My options were lumpectomy and radiation, and then continue to screen annually.”

But even with treatment and regular cancer screening, Jackson’s risk for breast cancer would still be high. That’s why she decided to have the double mastectomy in May 2021.

“I know there is a chance my cancer could have grown or spread before my next annual mammogram, and that could have really changed my treatment and prognosis,” Jackson says.

Advances in genetic testing

Providence’s genetic counselors hope Jackson’s story will help more women benefit from the CARE program.

“This program lets us identify high-risk individuals within a healthy population so we can help them manage their risk early, so they can detect cancer early or prevent it completely,” says Sandra Brown, a licensed, certified genetic counselor and Providence’s senior manager of genetic counseling in Southern California. Brown adds that, as in Jackson’s case, you may need additional testing today even if you had genetic testing performed five years ago.

At that time, genetic testing only looked for mutations in the two BRCA genes, says Danielle Carr, a licensed, certified genetic counselor and Providence’s regional genetics CARE program lead. Today, the testing looks for between 80 and 90 genetic mutations tied to hereditary cancer.

“People should know that even though their genetic information doesn’t change, our technology can,” she says.

They should also know that genetic testing and genetic counseling aren’t just for women.

Many genetic mutations that raise a woman’s risk for breast or ovarian cancer also raise a man’s risk for prostate cancer, Carr says. “It’s pretty rare for a genetic mutation to increase the risk for just one cancer type,” she says. “Most of the genes we’re looking at can increase the risk for multiple cancer types, which can apply to men and women.”

Breaking down barriers to care

In addition to flagging people for genetic testing, the CARE program informs women of their lifetime risk for developing breast cancer. The questionnaire calculates the risk, considering factors like whether you have dense breasts, your age when you had your first child and your family history of breast cancer.

The average lifetime risk of developing breast cancer is 12% to 13% for women, Carr says. Women with a risk above 20% are considered high risk for breast cancer. Genetic counselors recommend women who are at high risk, like Jackson, to add annual breast MRIs to their standard schedule of yearly mammograms. “It lets us keep a closer eye on them,” Carr says.

The CARE program is available at the Providence Orange County breast imaging centers at St. Jude Medical Center, Fullerton; St. Joseph Hospital, Orange; and Mission Hospital, Mission Viejo and Laguna Beach. Of the 43,320 women who received the questionnaire last year, 32,270 completed it and 9,089 met genetic testing criteria. That’s about 30% of the women who completed the questionnaire.

“Even if you have a history of normal mammograms, I encourage all women to find out if they qualify for a genetic test and, if they do, to definitely complete it,” Jackson says. “It’s a very easy test that has the potential to be so impactful. I truly believe genetic testing can save lives.”

Providence Orange County locations also offer a walk-in clinic designed for people who are newly diagnosed with cancer and need genetic testing.

The walk-in clinic is unique to Providence and helps eliminate barriers to care for some patients with cancer, Carr says.

“Especially for patients with cancer who tend to have a lot of other appointments to coordinate and may not be feeling well because of their disease or treatments, there can be obstacles to getting genetic testing,” she says. “We also know that any delay in getting that testing could be detrimental to their care. The walk-in clinic is same day, and it helps people get the testing they need in a way that’s accessible and timely.”

Contributing Caregivers

Sandra Brown, MS, CGC, and Danielle Carr, MS, CGC, serve patients at the cancer genetics program at Providence St. Joseph Hospital Orange in Orange, California.

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