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Women “undertested” for breast cancer mutations, say researchers

Genetic testing to uncover the existence of breast and ovarian cancer-associated mutations like BRCA1 and 2 can help a woman with cancer understand her risk of future tumors and also give an early warning to healthy family members who may harbor the same mutation. But a recent collaboration of Stanford cancer geneticist Allison Kurian, MD, with cancer specialists Steven Katz, MD, and Reshma Jagsi, MD, PhD, at the University of Michigan, suggest that many doctors are lax when it comes to recommending genetic testing. They published their results today in the Journal of the American Medical Association.

As Kurian explained in our release:

We found that genetic counseling and testing are not well-matched to medical need. Women are very interested in genetic testing but many fail to receive it. This is particularly worrisome because it means that doctors are missing the opportunity to prevent cancers in mutation carriers and their family members.

Kurian and her colleagues surveyed more than 2,500 women with breast cancer as to whether they wanted genetic testing, and, if so, whether they had been tested. They found that although about 2/3 of the women said they wanted testing, only about 1/3 actually were. About 56 percent of the women who were not tested said their doctors had not recommended the test.

Asian Americans and older women were particularly likely to be "undertested," the researchers found. They also found that many women did not receive any genetic counseling to either help them decide whether to be tested or to help them interpret their test results.

As Kurian said:

It is likely that some doctors don't realize the benefit that genetic testing provides. They may also lack the ability to explain the testing process and results clearly with patients. Priorities for the future should include strategies to expand the genetic counselor workforce and interventions to improve physicians' skill in communication and cancer risk assessment.

Kurian is associate director of the Stanford Program in Clinical Cancer Genetics and a member of the Stanford Cancer Institute. In 2012 she published on online tool to help women with BRCA mutations understand their treatment options.

Previously: NIH Director highlights Stanford research on breast cancer surgery choicesGene panel screens for dozens of cancer-associated mutations, say Stanford researchers and Despite genetic advances, detection still key in breast cancer
Photo by Alex Jones

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