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Should You Consider Genetic Testing?

How this modern tool can find, treat and prevent cancer

Published on: August 29, 2018

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With a decade’s worth of clean mammograms, 48-year-old Kimberly Conn never considered genetic testing for a hereditary breast cancer syndrome.

That changed in February 2018, when a mammogram and follow-up testing revealed cancer in Conn’s right breast. When she met with surgeon Dr. Richard Clarfeld of Bellevue’s Overlake Medical Center to talk about treatment options, Conn learned that her family history of ovarian cancer was closely tied to her breast cancer risk, making her a candidate for genetic testing.

“We don’t have anyone in my family with breast cancer, which is why I was so shocked to be diagnosed with breast cancer in my 40s. I had no idea these cancers were related,” says Conn. 

Conn next met with Overlake Medical Center genetic counselor Kathy Shih, who recommended that Conn get tested for hereditary cancer. Conn’s genetic test revealed a BRCA1 gene mutation, which increased her risk for breast cancer by nearly sevenfold.

Soon after, Conn had a double (or bilateral) mastectomy, which removed both breasts and dramatically lowered her lifetime risk for breast cancer.

After surgery, Conn’s doctors told her that the cancer that had been in her right breast was more aggressive than they’d originally thought — and that previously undetected precancerous cells were found in her left breast.

“That’s why I say that genetic testing saved my life,” Conn says. “Without it, this outcome could have been much different.”

Customized cancer care 

Now more accessible, informative and affordable than ever, genetic testing has shifted the landscape of cancer care, says Shih.

Modern genetic tests can help determine not just the detection of cancers, but their treatment; in 2017, the FDA approved a new drug called Keytruda, which targets a tumor’s genetic makeup, regardless of where the tumor originated. Treatments like these that target a tumor’s genetic markers may help the body’s own immune system fight cancer without damaging healthy cells, as radiation and chemotherapy do.

But how does all this science affect you? Here’s what to know about inherited cancer syndromes — and testing that could save not only your life, but those of your loved ones.

What are hereditary cancer syndromes?

Also called familial cancer syndromes, these inherited gene mutations account for about 5–10 percent of all cancers. Hereditary breast and ovarian cancer syndrome involves mutations in the BRCA1 and BRCA2 genes (well known thanks to Angelina Jolie’s 2013 “New York Times” op-ed). The BRCA1 mutation found in Conn’s genes can result in a lifetime risk for breast cancer of 46–87 percent, compared to the general population’s risk of 12.5 percent. This mutation also increases the risk of ovarian, pancreatic, prostate and male breast cancers.

Another hereditary cancer syndrome called Lynch syndrome increases the risk for colorectal and uterine cancer, along with stomach, ovarian, small bowel, hepatobiliary tract, urinary tract, brain and skin cancer. Li-Fraumeni syndrome is a rare inherited cancer syndrome linked to sarcomas, leukemia and brain cancer.

Who should get tested?

In general, Shih says, people who have blood relatives with a younger-than-average diagnosis of cancer are candidates for testing, particularly in families with multiple diagnoses of the cancer in the same organ, like breast or colon cancer, or diagnoses of rare cancers like male breast cancers, ovarian cancers or sarcomas.

Don’t get hung up on whether a cancer primarily affects males or females, says Shih. “A man should consider testing even with a significant family history of ‘female’ cancers,” she says. “He may be at increased risk for another type of cancer like prostate, and his daughters and/or granddaughters may be a high risk for breast and ovarian cancer themselves.”

Modern genetic testing has advanced so rapidly that people who previously tested negative for hereditary cancer syndromes may want to consider retesting. “Anyone concerned about their personal or family history of cancer should consider genetic counseling,” says Shih.

How much does it cost?

Costs have fallen in recent years; tests that used to costs thousands now cost hundreds of dollars, says Shih. Prices typically range from $250 to $2,500 (sometimes more); many tests are covered by insurance if there’s a concerning personal or family history.

When people already have some information about their inherited cancer risk — for example, their sibling tested positive for a genetic mutation that causes Lynch syndrome — patients may be able to order tests for that specific mutation at a fraction of the cost of more comprehensive screenings.

I tested positive. What now?

“I recommend that patients work with a genetic counselor rather than just order off-the-shelf kits on their own,” says Clarfeld. “Genetic counselors can connect patients who test positive to experts and information they need for their next steps.” 

Genetic testing may seem intimidating, but it isn’t scary, says Conn. The tests empower patients to make better choices about their health, both now and in the future, she says.

When the time comes, Conn says, she’ll talk to her daughter and son about their inherited cancer risk and genetic testing. Whatever those tests reveal, they’ll deal with the information together — as a family.

Editor's note: This article was sponsored by Overlake Medical Center and Clinics.

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