"Lupe's results simply stated that she had a variant of uncertain significance,'" says Weitzel. "Her genes did show some irregularities, but the test couldn't say for sure if they were harmful. More genetic testing and counseling should have been done before treatment options were offered." Weitzel himself went on to order a second, more complete type of breast cancer test (called BART) to further rule out any possible cancer-causing mutations. When no mutations were found, Weitzel advised Acosta that her risk did not warrant a preventive mastectomy.

But where Acosta's peace of mind was concerned, it was too late. "After being told I had a mutation, I couldn't shake the feeling that I was a ticking time bomb," she says. "I had to go ahead with the surgery if I was ever going to move on with my life."

In Weitzel's view, Acosta's ordeal highlights why it's so important that clinicians be adequately schooled in genetics before they offer testing to patients. It's hard to disagree—especially when many of the very doctors who counsel patients confess to being clueless. In a recent study funded by the National Human Genome Research Institute, 74 percent of more than 200 internists said their knowledge of genetics was "very to somewhat poor," yet 41 percent of them admitted to going ahead and ordering tests. In contrast, board-certified genetic counselors spend at least two years in graduate school studying the human genome and how our DNA can affect our health. They're highly trained to evaluate test results and can help you navigate risk reduction and treatment options.

Karla Wheeler, 32, says getting the wrong result when she was tested for Lynch syndrome—a disorder that can cause cancer in the small intestine, ovaries, and particularly the colon—caused months of anxiety during which she believed she'd have to give up her dream of having children. Several generations of Wheeler's family (including her father) had been plagued with colon cancer. "If I had the gene, my husband and I didn't want to pass it on to our kids," says Wheeler. She shared her concerns with her internist, who referred her to a gastroenterologist.

"The gastroenterologist said there was a new test that could determine if I had the gene, and I could have my blood drawn right in the office," says Wheeler. "When I called for the results, the receptionist told me I'd tested positive for the mutation." Concerned, Wheeler took her results to a new doctor, who recommended she go over the test with a genetic counselor. That's when Wheeler found Jeanne Homer, a certified genetic counselor at Hoag Family Cancer Institute in Newport Beach, California—and her future changed again.

After studying Wheeler's report, Homer said it was unlikely that she was carrying the mutation after all. Since her father had been diagnosed with colon cancer, Homer said he needed to be tested first. "Testing him allowed us to locate the specific genetic mutation on one of four genes linked to Lynch syndrome. This was the only way to confirm that the cancer was hereditary." Luckily for Wheeler, she hadn't inherited the mutation.

Next: How to avoid a misleading test


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