Breast Cancer Awareness: Family's story highlights importance of genetic testing

Delois Woods, left, and her daughter Tonja Peek tell their family's story about genetic cancer screening. Woods' recent breast cancer diagnosis led to the discovery that she and Peek have a genetic mutation called CHEK2 that is associated with higher risk of breast cancer and colorectal cancer. CHEK2 was unknown when Peek's sister, Tammy Fowler, was diagnosed with breast cancer 20 years ago, so she plans to have a new genetic screening done.
Delois Woods, left, and her daughter Tonja Peek tell their family's story about genetic cancer screening. Woods' recent breast cancer diagnosis led to the discovery that she and Peek have a genetic mutation called CHEK2 that is associated with higher risk of breast cancer and colorectal cancer. CHEK2 was unknown when Peek's sister, Tammy Fowler, was diagnosed with breast cancer 20 years ago, so she plans to have a new genetic screening done.

TEXARKANA, Texas - Twenty years apart, a mother's and daughter's breast cancer diagnoses show just how important genetic testing has become in fighting the disease and in guiding decisions about preventive treatment.

Delois Woods, 76, of Atlanta, Texas, and Tammy Fowler, 49, of Houston, share a bond too common between mothers and daughters: Both have survived breast cancer. More unusual is that Fowler's diagnosis came first, when she was not yet 30.

It was not until this summer that Woods got her diagnosis after a routine mammogram and had her genome tested for mutations that signal increased cancer risks. The advances in genetic testing since Fowler underwent it two decades ago led to a new discovery and a clear conclusion. Her test found a troubling genetic marker in Woods that was unknown in 1999. Fowler, whose genetic test back then was negative for the only mutations understood, called BRCA1 and BRCA2, needed to be retested. And her sister, Tonja Peek, 55, also from Atlanta, needed to consider getting her first genetic test.

Peek provided the small amount of blood needed for the test and two weeks later learned that like her mother, she is among the 7% to 10% of people more likely to get breast cancer because of their genes. In their case, the mutation is called CHEK2, and it is associated with higher risk of breast cancer and colorectal cancer. Suddenly, the whole family had difficult, important decisions to make. What exactly did the result mean, and how should they respond?

"I never, ever thought, I never, ever dreamed I'd have anything" amiss genetically, Woods said.

Tammy McKamie was there to help. As the cancer genetic educator at CHRISTUS St. Michael's W. Temple Webber Cancer Center since 2003, McKamie is accustomed to explaining the new diagnostic tools that have become available, one after another, as genetic science has advanced in the 21st century.

Early detection of cancer will always be a key to successful treatment, but genetic testing goes a step further, making prevention more achievable than ever before. As a result, a new term has come into use: "previvor," meaning someone who has a genetic predisposition for cancer but because of preventive action has never had the disease.

"We need to identify patients at an early age who are at a high risk and not wait until they get cancer and they come to the cancer center with breast cancer at 45," McKamie said. "In the past it was, 'Let's just treat it once it happens.' Then we got to early detection, and now we want to do prevention. That's where we are now, and that's what we push for now."

Genetic testing is still expensive enough that health care insurance will pay for it only for those with certain "red flags," such as a family history of certain cancers diagnosed when the patient is younger than a specified threshold. Having a relative who was diagnosed with breast cancer when they were younger than 45, for example, would indicate a genetic test is warranted.

Still, McKamie has seen insurance companies gradually loosen their restrictions on who should be tested as it becomes clear that genetic screening can reduce long-term costs, along with saving lives. More and more people qualify for genetic testing their insurance fully covers, so no one should assume they cannot afford it, she said.

"If you meet the guidelines, insurance usually pays 100%. Medicare pays 100% if you meet the guidelines. So it's not difficult to have testing anymore. It's getting easier and easier, and the guidelines and the criteria for insurance are getting broader and broader," McKamie said.

The Webber Center offers an online questionnaire that assesses whether someone is a candidate for genetic cancer screening. Testing is indicated for about 30% of respondents, McKamie said. In those cases, she receives an automated email and contacts them to inform them of their options. St. Michael also uses other means to identify those who should be tested, such as questionnaires administered when women get mammograms at the hospital's imaging center.

The screening that the Webber Center provides tests for 37 genetic mutations, each of which is associated with increased risk of up to eight categories of cancer: breast, ovarian, colorectal, endometrial, melanoma, pancreatic, gastric and other.

Most mutations mean higher risk of more than one kind of cancer, and one indicates increased risk for all eight categories. That means men with female relatives who have had breast or ovarian cancer may be at higher genetic risk for other kinds such as colon cancer, which genetic testing would reveal.

"This is a big misconception for men," McKamie said. "When we think about breast or ovarian cancer, most people don't think about men."

When high-risk mutations turn up, the minimal recommendations are more frequent screenings such as mammograms, as well as genetic testing for one's children so they too have a chance to prevent cancer. In cases where risk is especially high, patients may opt for more direct measures such as preventive, aka prophylactic, surgery. Rates of prophylactic mastectomy as a result of the presence of BRCA1 and BRCA2 have increased dramatically in recent years, according to breastcancer.org.

People often avoid genetic screening because they think finding a high-risk mutation is tantamount to receiving a death sentence they would rather avoid knowing about, McKamie said. But the potential for prevention means genetic testing could stop someone from having cancer at all. Genetic testing can also lead to more customized treatment if preventive measures fail. Cancers associated with certain mutations may respond to drugs differently than others, for example.

"Most likely, we will save your life, because we're going to start screening earlier, we're going to catch your cancer a lot earlier than we would've," she said.

Woods, Fowler and Peek are sympathetic to those who would rather not know their genetic status. All they can do is tell their story and hope family members act on the information, they said. But they are thankful for the opportunity genetic testing gave them to try and prevent potentially deadly disease.

Fowler had a double mastectomy as part of her treatment 20 years ago. She plans to have a fresh genetic screening done and will remain vigilant about her cancer risk, seeing a gynecologist and a general surgeon regularly.

"It's so important to get the word out to all those breast cancer survivors who did have this test so many years ago, that they need to retest," Fowler said.

Peek has learned she has a 23% to 48% chance of developing cancer by age 80, and she consulted with her gynecologist about options this week. She is leaning toward a prophylactic double mastectomy, she said.

"Otherwise, it's going to be have a mammogram and then six months later have an MRI, then another mammogram," with a chance that a cancer could develop and spread during the time between those screenings, she said.

Both sisters will encourage their children to get genetic screenings, as well.

Woods, who in August had a mastectomy of one breast where tumors were found, on Tuesday had the procedure on the other breast preventively. She "came through the surgery great" and was home recovering, Peek said Wednesday.

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