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    The Emotional Impact of Testing Positive for a BRCA Gene Mutation


    When Ann’s genetic test came back positive for a BRCA gene mutation (indicating that she is at higher risk of developing breast or ovarian cancer), she was more anxious than she had expected to be – and her anxiety became even worse after her first meeting with a surgical breast oncologist. “It felt like all he wanted to cut off my breasts right away! Do I have to get a surgery this minute? Does my daughter have to have a breast surgery too? What about my son, is he at risk for breast cancer? Wow, having this genetic information makes me really wonder what to do!”

    Getting tested for a BRCA gene mutation can be a psychologically difficult process. Because genetic testing is medically very complicated, it’s important to discuss the results with a trained genetic counselor who can help you avoid the anxiety that invariably comes with complicated medical information. Once you have the benefit of learning more from the genetic counselor, the next step is to find a specialist (doctor or nurse) who takes care of people who have a BRCA gene mutation. A specialty clinic can help you work through the medical choices to minimize your cancer risk, such as increasing the frequency of scans or blood work to detect cancer, or meeting with a surgeon to talk about how an operation may reduce cancer risk. For Ann, the meeting with the surgeon came before she really knew how the BRCA mutation increased her breast cancer risk and what the surgery would do to reduce her risk. But once she met with a genetic counselor and connected with a specialty high risk clinic, she better understood the percentages and felt much more comfortable making a decision about surgery that felt right for her. She also learned that her kids would benefit from appointments with genetic counselors and a specialty clinic too, so they could get help making a decision that was best for them.

    It is normal to worry and wonder about your cancer risk when you learn that you have a BRCA gene mutation. For some people, being positive for the BRCA mutation not only generates worry, but also guilt. For Ann, the guilt came from thinking her son and daughter would get breast cancer because of her: “I have really burdened them with this terrible disease!” It took some time talking about her relationship with her children and paying careful attention to all the good qualities they had because of her (great smiles, tendency to be kind to others, musically gifted) before Ann was able to move past this terrible feeling of guilt and think in a more realistic, helpful way. “I can’t possibly blame myself for genes I got at birth! I certainly wish I did not have the BRCA gene mutation, but I know now that I would never choose to put my kids through this, and it is not my fault if they have it too. What I will do is help them minimize their cancer risk in whatever way I can!” Ann and her kids all decided to adopt an anti-inflammatory diet and join a hiking club in order to keep their weight down and stay physically fit, habits that not only minimize cancer risk but also help manage daily stress.

    For some people, finding out they are positive for a BRCA mutation can generate so much negative emotion (like anxiety) that it is hard to make a decision about treatment. Speaking up about the anxiety with your primary care doctor, or a genetic counselor, will not only mean you get the support and information you need to make a treatment decision, but also possibly get care for your emotional distress. Treating emotional distress, like anxiety, gives you the sense that even though the situation is difficult, it is something that can be managed.


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