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For at-risk patients, breast cancer genetic test gives vital information

LETTER — Posted July 1, 2013

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Regarding “Jolie’s choice creates patient demand for tests” (Article, May 27): Your article aptly points out that this test is important for women with a strong family history as determined by the patient’s physician and after discussing testing and its ramifications with a genetic counselor.

However, to state that the test can yield ambiguous results for average women is misleading. The test is either read as positive, i.e., a mutation is found, or negative, and it rarely is reported as a variant of uncertain significance. A variant, or unsure result, is further investigated and followed over the years and kept in the Myriad database.

Also, the average-risk woman does not get ambiguous results, nor would she meet criteria for testing. For the patient at risk, this information is vital, empowering and potentially lifesaving. I have discussed and offered testing to hundreds of at-risk women and men, many scared and embarrassed. I applaud Angelina Jolie for bringing this issue to the media’s eye and for allowing women to realize you can still be “beautiful” even if you have a genetic mutation.

Susan Klugman, MD, New York

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