Inconclusive Genetic Testing Results Might Lead To Anxiety About Breast Cancer, Study Says

Main Category: Breast Cancer
Also Included In: Genetics
Article Date: 20 Oct 2008 - 1:00 PDT

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Although genetic testing can provide some women with information about their risk for breast cancer, women who receive inconclusive results from genetic testing might be left with persistent anxiety, according to a study published recently in the journal Genetics in Medicine, Reuters reports. Mutations in the genes BRCA1 and BRCA2 cause about 5% to 10% of breast cancer cases. Women with a family history of breast cancer can receive genetic testing for BRCA genes to determine if they carry a mutation.

Although some women receive "true negative" results from genetic tests -- meaning that they do not carry the BRCA mutations that can increase their risk of breast cancer -- other women often will have a strong family history of breast cancer, but the specific family mutations are unknown. These women can test negative for generally known BRCA mutations, but the possibility of developing hereditary breast cancer cannot be ruled out, according to Reuters.

According to the study, women who were given inconclusive results from BRCA genetic tests usually were as concerned about their results as women who received positive results. The inconclusive results also prevented women from being able to cope with their results as easily as women who received negative results. The study, conducted at Leiden University Medical Center in the Netherlands, focused on the long-term psychological adjustment of 215 women, 147 of whom received inconclusive results. Thirty-seven women received positive test results and 31 received "true-negative" results, according to the researchers. According to the authors, the women who received "true-negative" results showed the best adjustment years after being tested.

The study's findings illustrate the importance of genetic counseling before and after BRCA testing to ensure that women have reasonable expectations of the test and fully understand the results, according to the researchers. Study author Sandra van Dijk said that it "seems that many women expect certainty and do not realize that it is difficult to rule out a genetic explanation for multiple cases of breast cancer among family members." She added that genetic testing might not give women the "relief" they had hoped for. Van Dijk added that "[a]djustment of expectations seems to be important in coming to terms with the result and should be addressed by genetic counselors prior to DNA testing" (Norton, Reuters, 10/15).

An abstract of the study is available online.

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