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Dealing With Results

After counseling, if the patient chooses to sign a consent form, blood is drawn and the sample is shipped away to Myriad Labs in Salt Lake City for analysis. Four to five weeks later, the patients return to the genetic counselor to hear the results in person. Regardless of the outcome, their reactions are usually strong.

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"It's very hard to receive positive results," Ducaine said. "It's very emotional. Usually people will cry."

Salamone was prepared when her genetics counselor told her she tested positive for a BRCA1 mutation.

"My genetic counselor laid it out beforehand -- here's what's going on, here's what we expect," she said. "We weren't surprised."

Ahrens said the majority of patients she works with aren't quite as prepared for the test results.

"It's one thing to talk about having a mutation in a gene, and it's another thing to have that piece of paper that says, ‘Yes, you do have it,’ or ‘No, you don't have it,’" she said. She said reactions depend largely on the patient's personality and family experience with cancer.

Follow Up

In sharing a positive test result with a patient, genetics clinic staff then discusses possible treatment options. Ahrens said she goes over the preventive options she presented in the initial counseling session.

"Some people can hear you and some people can't," Ahrens said. To reinforce the message, she follows up with a phone call a week later and sends a letter summarizing the results.

Sometimes a follow-up appointment is scheduled to talk about how to share the information with family members. Parents of the patient are often overwhelmed with guilt for passing on the mutation, Hamilton said. Women who test positive have concerns about passing on mutation to their own children, but not to the level where they're not going to have children.

Salamone had to postpone childbearing because of her breast cancer treatment, which included five years on the drug Tamoxifen to ward off recurrence. But now she and her husband are trying to start a family.

She's concerned about passing on the BCRA mutation, but Salamone said she'll make sure her future children are educated about the mutation and are encouraged to communicate about it.

Negative Test Not All Clear

A positive test for a genetic mutation might be bad news, but receiving a negative test result doesn't necessarily garner relief.

"If a woman tests negative, but she's in a family with a lot of breast cancer experience, she's not sure if she believes the test," Hamilton said. "Unfortunately, that's correct. It could be another mutation."

Hamilton said women in that situation aren't reassured by a negative result, especially if they've already been diagnosed with breast cancer.

On the flip side, some women with a negative test result might think they're out of the woods entirely -- which isn't the case. If a woman has a history of breast cancer, but the BRCA mutation doesn't run in her family, there's a good chance there's a hereditary component to the cancer that simply hasn't been identified by scientists yet.

However, if the BRCA mutation does run in a woman's family and she tests negative, her risk of breast cancer is the same as that of the general population -- which the National Cancer Institute estimates is about a 13.2 percent lifetime chance.

Perhaps the most frustrating test results, though, are inconclusive ones. A "variant of uncertain significance" test result means a mutation was found in the BRCA genes, but it may or may not impact cancer risk.

With such a test result, patients are encouraged to stay in contact with the genetics clinic to see if their particular mutation is reclassified as dangerous or harmless. Research studies are ongoing to classify these mutations.

Wait And See, Or Mastectomy

When a woman gets a positive test result for a BCRA mutation, she's faced with a number of options. Many choose increased monitoring -- yearly mammograms and MRIs, as well as regular self-breast exams and clinical breast exams.

There are medication options available, too: Tamoxifen and Evista have been shown to reduce breast cancer recurrence risk, Miller said.

The most effective option is also the most drastic: surgery to remove the breasts. Across the country, about 20 to 25 percent of women will choose prophylactic surgery, which cuts breast cancer risk by about 90 percent, Miller said.

"If they've already had their children, they seem to be pretty open to surgery, even though they seem to understand that they'll be plunged into instant menopause," Hamilton said.

Salamone opted for a double mastectomy followed by reconstruction, and she promised her oncologist she'd have her ovaries removed by the time she's 40 to reduce her risk of ovarian cancer.

Ahrens said a patient's personality also has an impact on treatment decisions. A laid-back person would be content with extra screening, while some people can't deal with that kind of uncertainty.

Increased monitoring might seem like the most painless choice for women with a positive result, but it has its drawbacks. For one thing, it usually means annual mammograms and MRIs, as well as biopsies for any suspicious tissues.

In general, mammograms are only recommended for women age 40 and older. Among younger BCRA mutation carriers who choose increased surveillance, some face a less-than-welcoming environment when they arrive to get their mammograms. Hamilton said some of the women in her study have been hassled by the hospital techs, who quiz them about why they're getting mammograms at such a young age.

She said health-care providers need to have more sensitivity for these young women.

"They need support, not hassling," she said.

Additional Resources:

• The Sister Study
• Young Survival Coalition