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Genetic Testing Part 1

Updated: May 8, 2007
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Having a family history of breast or ovarian cancer is scary for many. But now a simple test can give more women their options. Mary Jane Zonfrillis aunt was diagnosed with ovarian cancer three years ago. And that set off a chain reaction leading to her desire for more information about her own chances. Zonfrilli says "I looked up the statistics as far as the chances of getting breast cancer and ovarian cancer when youre positive for the gene mutation and it was very high risk." So she meet with a genetic counselor and took a blood test. A few weeks later, the results showed she tested positive for the br-ca 2 gene mutation. Zonfrilli says "Statistcally I saw no other choice but the choice I made, which was to go ahead and have a prophylactic mascectomy and hysterectomy and ovaries removed. For me that was the number one option." Jennifer Burton is a certified genetic counselor with Carle Clinic. She says most of her patients dont want to take such drastic measures. But she says it is the best way to reduce the risk of cancer. Burton says "Theres a lot of other options other than surgery and I think thats a little bit of a misconception too. I think people think that if they test positive were going to tell them they have to have a mascectomy and they dont at all." No matter what you do with the results, Burton encourages the testing if you have a family history. Burton says "I go through the whole testing process with the patient in terms of what the benefits and limitations of the testing, what you do if youre positive." The knowledge empowers patients to take action and gives doctors a better sense of how to treat them. In Mary Janes case, it helped convince her two nieces to also get tested. Jessica and Kalynn Keith knew the odds were stacked against them, as their entire family tested positive for the gene. But they decided the knowledge was power. Hear more on this story coming up Wednesday on the News at Five... as we get the results of the Keith sisters test.

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