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The choice of genetic testing

Updated: Friday, May 16 2014, 06:24 AM EDT

by Ginny Ryan

Rochester, N.Y. -- What are your genetic odds of getting breast or ovarian cancer?

When Angelina Jolie learned a genetic mutation gave her an 87 percent chance of getting breast cancer, she had a preventative mastectomy. Jolie told the world and awareness about genetic testing changed overnight.

They call it the "Jolie effect". More and more people are being screened for genetic mutations that cause breast and ovarian cancers. It's more accessible, and affordable than ever.

Susan Berg is one of them. At age 43, the mother of two was diagnosed with ovarian cancer, which is extremely rare for someone her age.

A short time later, her 52-year-old cousin received the same diagnosis.

With no other cancer in the family, Susan wondered if hers had a genetic cause. If so,could the same mutated gene also give her breast cancer?

Berg met with genetic counselor Jessica Salamone at the Elizabeth Wende Breast Care Clinic.

Looking at her medical history, they determined she was a good candidate for genetic testing.

"The number one reason people do it is the power in the information," said Salamone. "The number one reason people say no to testing is the psychological burden. Knowing you have 90 percent risk of breast cancer and 50 percent risk of ovarian, many see it as a black cloud."

Genetic testing involves a simple blood test or mouth swab. Results take about two weeks to get. As Berg found it, the choice to test is individual but the results unwittingly expose family members to genetic information they may not want to know.

"I may have a woman who is positive whose brother thinks, 'Why would I want to be tested for breast cancer?" Salamone said. "But his daughter may want to get tested and does. By default, her father is positive as well."

Berg decided to have genetic testing, and with her family by her side, learned what she suspected: She carried BRCA1, the genetic mutation that significantly raises her risk of ovarian and breast cancer.

"All I could think about was my kids," Berg said. "The thought of passing it to my children was about more than I could take."

And she had more decisions, like what to do with the information that her risk of breast cancer was 87 percent.

Berg decided to have both breasts removed, reducing her cancer risk to less than 5 percent.

She said she has no regrets and now counsels other women in similar situations.

Monday, Berg will go along as the Elizabeth Wende Breast Care Clinic invites women who are considering genetic testing to a free, private screening of the movie "Decoding Annie Parker." It tells the story of the doctor who discovered the so-called breast cancer gene, BRCA1. Anyone interested in going to the movie may call 758-7041.

 

The choice of genetic testing


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