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Genetic Testing and Breast Cancer:
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Kathy was late for her book club meeting. She had had her yearly mammogram and the results had been negative—all was well. However, she had to wait, because she wanted to talk to Dr. Benjamin, the radiologist.
She raced into the restaurant where the book club was meeting, sat down with her friends, and burst into tears. Her friends gathered around her, concerned.
Mary spoke first. "Kathy, why are you so upset?"
Kathy calmed herself and looked at her friends. "I've just come from Dr. Benjamin's office."
Sarah interjected, "Please don't tell us that he found a lump."
"No, no," said Kathy. "My mammogram was negative. But we had the most upsetting conversation afterwards. I told him that my cousins are encouraging me to get tested for the breast cancer gene. They say that I should find out if I'm at risk."
Peter jumped in. "Of course you're at risk. Your daughter, Rachel, survived breast cancer—you know you are at risk. What's the matter with them?"
John added, "I guess they figure that since Rachel had breast cancer, she might have the gene, and she might have gotten it from you."
"Dr. Benjamin was explaining the gene to me, but I really don't get it. You know, the whole thing scares me," said Kathy. "I can't see what good can come from knowing if I have it."
John interjected, "Susan and I had ourselves tested for Tay Sachs. Knowledge is power, Kathy. Why wouldn't you get tested? The more you know, the better informed decisions you can make."
"Knowledge may not always be an ally," said Sarah. "Some years ago, when I was fired from my job, I suspected it was because I mentioned that my Dad had Huntington's disease."
"I'll tell you something good you can do," said Peter. "Eat healthy and exercise. That'll do you more good than all the worry and stress about testing."
Martha jumped in. "The knowledge from the Human Genome Project is exciting, Kathy. Every day at work we move closer to finding the causes of disease by our knowledge of genes."
"My parishioners are often telling me of good things accomplished by genetic testing," said Mary.
Kathy started crying again. "This is just too confusing for me."
Martha put her arm around Kathy. "We're here for you, Kathy. We'll sort this out. It sounds like each of us has some information that may help. Let's think about what we know that might be useful, and then we can share that with you. I'm sure there's a good answer for you."
Image Credit: The BCRA1 and BCRA2 genes map, respectively, to chromosomes 17 and 13. Illustrations from the National Center for Biotechnology Information.
Date Posted: 07/31/02 nas. Revised 03/10/03.
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