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Acting on mutated genes provides knowledge to families and results for generations

Acting on mutated genes provides knowledge to families and results for generations
As the genetic counselor at Carle Cancer Institute Urbana, Arlie Button spends a lot of time talking with family members about what it means to discover if they carry a mutated BRCA1 or BRCA2 gene that increases their likelihoods of breast, ovary or prostate cancer.
 
Typically, if someone learns through testing that they have the mutated gene, one or two more family members agree to participate in genetic counseling and learn if the same genetic marker was passed down, but Button recently connected to three generations of family members.
 
“I was particularly impressed with the speed at which family members took action, she said. “My phone was ringing within 30 minutes of the first person receiving results and by the end of that day eight relatives had contacted me about how they could schedule genetic counseling and testing,” Button said. “The family is a prime example of how effectively spreading medical news can save lives.”
 
Making the decision to be tested is a very individual and often emotional choice sometimes prompted by a family member stricken with one of the cancers and a mutated gene. Some people want to know if they have the mutation and others choose not to know.
 
When meeting with a genetic counselor, there is discussion of medical history, a collection of family history, how cancer risks are passed down in a family, cancer prevention options and screening, review of genetic testing options and counseling support.
 
At 70, Steve Epperson of Sullivan has been cancer free for eight months and he also survived a severe heart attack. There is no history of breast or prostate cancer in his family, but he wanted the test and discovered he does have the mutated gene.
 
“I guess it is good to know you can be on the watch for cancer. Maybe they need to start doing the testing more,” he said.
 
Before the test, his sister, Angie Herbert of Tolono, had one ovary removed in 2004 due to medical problems she was having and after learning she had the mutated gene, she had the other ovary removed in January. She has six-month screenings of either MRI’s or mammograms every six months rather than have a double mastectomy.
 
“You go through all sorts of emotions.” she said. “I look at it as it’s better to know. If you don’t do it for yourself, do it for your kids.” 

Categories: Staying Healthy, Redefining Healthcare, Community

Tags: cancer, family, gene

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