BREAST CANCER AWARENESS: What you need to know about genetic testing

Herald Health CorrespondentOctober 1, 2013 

Angelina Jolie sought genetic testing for the gene mutation that sharply raises risk for breast and ovarian cancer, but should you? One third of women polled by Harris Interactive in August said they would if insurance paid for it.

Jolie announced in May she'd had a double mastectomy and reconstruction after learning she carried the BRCA1 gene mutation. There was a strong family history. Her mother had died of ovarian cancer and her aunt had breast cancer.

But genetic testing is recommended for only a small minority of women. Genetic counselors will tell you a red flag is a family member getting cancer before age 50. A grandmother who was first diagnosed with breast cancer when she was elderly doesn't indicate any increased risk.

"You can certainly say it's not every patient who needs genetic testing but only a certain population," said Bradenton oncology radiologist Mary Koshy.

"Genetic variations account for only 10 percent of all breast cancers," said Koshy.

The breast cancer genes BRCA1 and BRCA2 were identified in the early 1990s, soon followed by a diagnostic test. But there are hundreds of genes associated with breast cancer and today there are test panels that can identify many genes at once, said Cathleen McCann, a certified genetics counselor at Sarasota Memorial Hospital.

Although Jolie's announcement about her breast surgery raised awareness about genetic testing, it also created a lot of unnecessary fear, said McCann.

"Women are worried and they want a guarantee," she said.

Even having cancer in one breast won't automatically mean genetic testing is needed to assess risk in the other breast, said McCann.

As a genetics counselor, McCann takes a three-generation family history as part of her assessment of whether a genetics test can be recommended and if so, which one.

Putting the puzzle together is complex. Different types of cancer can be the result of the same gene mutation. A familial pattern of thyroid, colon and breast cancer could be related through a certain type of gene mutation, and so could a pattern of breast cancer and sarcoma.

"If you have a doctor just do a BRCA test for you, you could have completely missed what gene should have been tested," said McCann.

Likewise, having a BRCA test with negative results could give a false sense of security when a woman decides she no longer needs breast cancer screenings.

Longtime genetic testing advocate Marcia Fishman-Petersen would agree. She lives in Bradenton and is a member of FORCE, a national advocacy group for women who have BRCA genes. Part of the group's mission is to expand testing access but Fishman-Petersen also recommends that women first meet with a certified genetics counselor before seeking a test.

Fishman-Petersen sought genetic testing for BRCA mutations after her cousin tested positive for the gene and because the mutation occurs more often in women of her Ashkenazi Jewish heritage.

She got the test anonymously and paid cash instead of trying to get her health insurer to pay, fearing a paper trail might lead to discrimination by a health insurer or employer.

A 2008 federal law now prevents discrimination by health insurers and employers because of genetic test results; however, insurance for life, disability or long-term care is exempt.

Fishman-Petersen tested negative but she didn't stop diligent screenings. Breast cancer seemed to run in her family, affecting her aunts, cousins and mother, and Fishman-Petersen had a premonition that it would one day also strike her.

She was right. In late 2004, when she was 49, diagnostic tests showed she had Stage II breast cancer. She had a mastectomy and chemotherapy.

"Right now, everybody is BRCA, BRCA, BRCA and if I test negatively, that's cool. Well, it depends," said Fishman-Petersen.

"You still need to be vigilant. It's not an all-or-nothing situation," she said.

Meanwhile, a woman who tests positive has more than one alternative in deciding what she wants to do.

"If you have genetic testing and it ends up being positive, there are a variety of options," said Koshy.

One is preventive mastectomy, like Jolie's choice. Two other options, said Koshy, are taking the same hormone-blocking medications prescribed for breast-cancer patients, or increasing breast-cancer screenings for watchful waiting.

Susan Hemmingway, Herald health correspondent, can be reached at

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