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Genetic testing for cancer risk raises questions
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Genetic testing for cancer risk raises questions
""There must be something here," some inherited cancer threat, feared Judy Wohlers, 54, of Hamlin. To protect herself, she watched for symptoms, saw her doctors regularly, told them of her relatives' diagnoses and started mammograms early. "

"Then the risk got closer and scarier. Her younger sister was diagnosed with breast cancer nine years ago, at 35, and an older brother was treated for prostate cancer. Those different cancers can be linked to the same genetic defect. "

"If at least two close relatives develop breast or ovarian cancer before age 40, tough questions arise. Should you have genetic testing to see whether you inherited a malfunctioning gene? Both men and women can have genetic testing. The results can guide their own prevention and/or treatment, and to assess risk for their children. "

"Knowing which cards you've been dealt helps you play the hand. But some people don't want scary information hanging over them or they fear that the results could hurt their ability to keep or get a job, health insurance, life insurance or disability insurance. These concerns remain, despite Health Insurance Portability and Accountability Act rules that make genetic-testing information private. Legislation is moving through Congress that would prohibit health insurance and employment discrimination based on genetic information. "

"Often related to genetic testing is the question of whether to have healthy breasts or ovaries surgically removed to reduce your risk of developing cancer. These aren't just clinical decisions based on risks, benefits and consequences. There's also the emotional side. After breast surgery, women must deal with how their body looks and how others might react. After reproductive surgery, they likely face the consequences of sudden menopause. "

"A genetic defect is not a death sentence, says Dr. Clelia Negrini, clinical geneticist at Strong Memorial Hospital in Rochester. Each of us likely has genetic mutations that increase our risk of some disease. "Bottom line, I think, knowledge is power," says Negrini. "

"If you have a gene mutation and you have both breasts removed, you wipe out 95 percent of your chance of developing breast cancer, says Negrini. (Some breast tissue remains.) "

"Researchers have identified more than 80 genes associated with inherited susceptibility to cancers. Two in particular � BRCA1 and BRCA2, named for breast cancer � can contain flaws that significantly increase the risk of multiple cancers, particularly breast and ovarian cancer but also prostate, colon and pancreatic cancers. Having an irregular gene doesn't guarantee that you will develop cancer but it does increase the likelihood. Likewise, a negative genetic test doesn't guarantee a cancer-free life. Many cancer cases are considered sporadic rather than genetic, meaning they're linked to age, lifestyle and other risk factors. "

"Wohlers' fears came true two years ago. She was diagnosed with stage III ovarian cancer. She followed three recommendations: surgery, chemotherapy and a $3,000 genetic test, done from a blood sample. "

"Decisions about genetic testing and about preventive surgery played out differently for Wohlers and her younger sister, Laura Donnelly, who'd had breast cancer. "

"Each sister is at higher risk of the other's cancer. Donnelly's physicians successfully pushed her insurance company and within weeks she had laparoscopic surgery to remove her uterus and ovaries. "

""That's how concerned they were," says Donnelly, 44, a graduate of Brockport High School who now lives in Milwaukee. Ovarian cancer is hard to discover until it has progressed. It tends to recur and is the most fatal of cancers involving a woman's reproductive tract. "

"Wohlers, a secretary at ITT in Rochester who spends summers with her husband and daughter at a cottage in Parma, wants a mastectomy. But her insurance won't cover it because her genetic test came back negative. "

"She's still at high risk for breast cancer because of her family history. She likely carries a different genetic flaw that science can't yet identify, says Negrini, the clinical geneticist. Among people with a family history of cancer, only 33 percent test positive for a genetic defect, Negrini says. "

"Since Wohlers wasn't approved for surgery, she hopes to be protected by heightened screening, including annual mammograms. A guidelineissued this year calls for certain women to have magnetic resonance imaging scans along with a yearly mammogram. Women at high risk for ovarian cancer could have an annual pelvic/abdominal ultrasound exam with a vaginal probe and a blood test to monitor tumor marker CA 125, Negrini says. (That tumor marker isn't monitored in all women because it can be elevated by a variety of things other than cancer.) "

"Men at high risk for prostate cancer should have an
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