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Genetic Breast Cancer Testing Brings Controversy

Experts Advise Most To Skip New Test

POSTED: 11:39 am EDT October 9, 2007
UPDATED: 10:14 am EDT October 10, 2007

Danielle Kupperman was just 24 years old when she found out that she, and two of her sisters, were genetically predisposed to breast and ovarian cancer.

Her mother had just been diagnosed with Stage IV ovarian cancer. Six years later, Danielle got her own diagnosis.

"I found out five and a half weeks after I had my son. I was breast-feeding and I felt the lump," Kupperman said. "All I can remember is writhing around on the floor in my kitchen, hysterical. And then it's pretty much a blur."

NewsCenter 5's medical editor Dr. Timothy Johnson reported that testing positive for the BRCA 1 or 2 gene can be devastating news. Eighty-five out of 100 women who do test positive will get breast cancer at some point in their life. That risk is seven times higher than women without the gene.

"And now," Kupperman said, "I have these genes still. I need to get rid of these breasts."

A positive test result can force women to make terribly difficult decisions. Some choose to have a prophylactic double mastectomy and remove their ovaries to significantly lower their risk.

Those excruciating choices are the reason experts tell women considering a genetic test to go through the process with a qualified specialist, and not a primary care doctor.

Many genetic testing experts are upset about a new ad campaign by Myriad, the company that makes the BRACAnalysis genetic test.

The television ad states, "Breast cancer runs in my family. BRACAnalysis is a blood test that's helped thousands find out their risk for hereditary breast and ovarian cancer. I realized I could choose to find ways to help reduce my risk now."

Judy Garber, a genetics specialist at the Dana-Farber Cancer Institute, said not all patients should have BRACAnalysis.

"You want to be sure you are ready to deal with the answer to the test. What if you find something? Have you considered what that will mean for you?"

"It's not like a quick shot, put you arm out, have your blood drawn and get you results," said Judi Hirshfield-Bartek, RN, from Beth Israel Deaconess Medical Center.

"There are tremendous implications. It is a long conversation that involves not just the individual who is found to have the gene mutation, but other family members are well."

Even if the test comes back negative, women are not off the hook because only a small percentage of cancers have a genetic cause. What's more, many wonder what genetic testing could mean for future generations.

"Even if the test is positive, the chance that your child will also be a carrier is 50/50," said Garber.

It all explains the dilemma of genetic testing, and the life-altering decisions those test results can force women like Danielle to make.

Through tears, she said, "And to know I have the gene and, yeah, I should have gotten rid of my breasts and ovaries then, but I still thought let me just have my family first."

Despite her ordeal, Danielle is celebrating some welcome news. After a long battle with her insurance company, she has just been granted coverage to go out-of-state for a rare double mastectomy and simultaneous reconstruction.