News Release

High-risk women welcome genetic testing for breast cancer gene

Penn study refutes prior research findings

Peer-Reviewed Publication

University of Pennsylvania School of Medicine

(Philadelphia, PA) -- Many health care professionals believe that women with family histories of breast cancer live with anxiety day-to-day, that the prospect of genetic testing will only increase their distress, and that genetic test findings confirming they are personally at a heightened risk of cancer can be devastating for them. But researchers at the University of Pennsylvania School of Medicine have found that for women with family histories of breast cancer, the discovery that that they carry the so-called "breast-cancer gene" is not, in itself, a source of severe long-term emotional distress.

"It is not the testing that is threatening to their adjustment and mental health. It is living with cancer in their families, and waiting to see whom it strikes next, and feeling helpless," said James C. Coyne, PhD, Professor of Psychiatry and Director of the Division of Behavioral Oncology at Penn. "In fact, in many cases the decision to pursue genetic testing may be a healthful and constructive way to cope with the threat of cancer." The study by Coyne and his colleagues has recently been published in American Journal of Medical Genetics.

Although most breast cancer is not caused by abnormalities in the BRCA1 or BRCA2 genes -- which are part of every person's genetic make-up -- the presence of abnormalities in either (or both) of those genes indicates a 55 to 85 percent likelihood that breast cancer will eventually develop.

In their research, Coyne and his colleagues studied the reactions of 196 women who were offered genetic testing, counseled about what they would learn from such tests, and informed about medical or surgical alternatives that might be available in the event of bad genetic news.

The Penn researchers found that "being offered genetic testing is not a significant mental health risk. It is a tool for establishing the truth about a patient's situation, and for examining different health strategies," Coyne said.

"Some researchers have become over-focused on how devastated these women would be by a positive finding for an altered BRCA1/2 gene. But right now, we are scaring women by suggesting that there is a mental health issue to being tested," Coyne said. "This is not a mental health issue. It is an issue of helping women to make more informed choices about their high-risk status with breast cancer."

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