Drug that Prevents Breast Cancer Highlights Importance of Genetic Testing

The recent announcement that the drug tamoxifen may prevent breast cancer draws into sharper focus the social and ethical concerns surrounding genetic testing to screen for breast cancer risk, according to Yale University researcher Jeannie Pasacreta.

Pasacreta, an associate professor of nursing and director of the Yale University School of Nursing’s Psychiatric-Mental Health Program, has spent her career studying the psychosocial implications of breast cancer in women diagnosed with the disease. More recently, she has turned her attention to women who are at high risk for breast cancer. Because genetic testing can now identify some of the mutations associated with this disease, still-healthy women are facing many of the same difficult questions as breast cancer patients. “It’s brought the point of diagnosis to a much earlier time,” she said.

Pasacreta is currently conducting focus groups of high-risk women to determine the psychological, social, familial and insurance-related issues around genetic testing. “We hope to develop a questionnaire to screen for women who may have ongoing difficulty with the issue of their risk status,” she said.

The demand for genetic testing may increase dramatically following a National Cancer Institute announcement that tamoxifen, previously used to treat breast cancer, actually lowered the disease rate by 45 percent among high-risk women in a clinical trial, Pasacreta asserts.

“This gives women more motivation to go through genetic testing,” she said. “Prior to the tamoxifen trial, the only option open to women who found that they had a breast cancer susceptibility gene was to undergo surgical removal of the breasts and/or ovaries to prevent these organs from developing cancer.

Pasacreta cautioned that increased demand for genetic testing could motivate the health-care industry to market that service for profit, without providing appropriate counseling. “The concern initially was that it would be marketed like a home pregnancy test,” said Pasacreta. Unlike home pregnancy kits, the tests for breast cancer susceptibility genes often do not yield clear-cut results, she explained. Without a detailed examination of a woman’s family history and associated counseling and education, it is difficult to determine who should be tested and how to interpret the results.

The recent tamoxifen study, and that of a similar medication that also prevents breast cancer, focuses attention on the cost of genetic testing. A full battery of tests for breast cancer genes costs several thousand dollars, said Pasacreta. “Genetic testing is still financially out of reach for many women,” she said.

Women whose insurance covers the tests often choose to pay for it themselves rather than give an insurer access to the results. They fear that a genetic susceptibility to breast cancer will lead their insurance company to consider the disease a pre-existing condition and refuse coverage on that basis.

Women with strong family histories of breast or ovarian cancer who would like to participate in focus groups or individual interviews may call Pasacreta at (203) 785-3752.

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Gila Reinstein: gila.reinstein@yale.edu, 203-432-1325