Gauging genetic breast cancer risk reassures women

Women with a family history of breast cancer who undergo genetic risk screening worry less about the disease afterwards and show improvements in their psychological well being, a new review shows.

Many women feel better simply by getting definitive information about their risk status, whether it is low, moderate or high, Dr. Rachel Iredale of the Institute of Medical Genetics, Cardiff University and her colleagues found.

"The women who are at high risk get access to different sorts of services; care provision for them is mapped out, they're going to get monitored more closely, so that can provide reassurance for them," Iredale told Reuters Health.

The mutations in the BRCA1 and BRCA2 genes that increase breast cancer risk and are found in 5 percent to 10 percent of women were only discovered a decade ago, Iredale noted, so healthcare services informing women about their risk are fairly new.

Meanwhile, an increasing number of genetic mutations linked to cancer - and other common conditions such as heart disease - promise to cause an explosion in the already "huge" demand for such services.

To better understand how to provide these services, Iredale and her team looked at the first step in the process, in which a woman works with a counselor or doctor to draw up her family history of breast cancer. Based on this information, a woman will then be classified as low, moderate or high risk.

Low-risk women have the same risk as that of the general population and require no services beyond standard preventive care, while moderate-risk women may be referred for more frequent mammograms and other types of screening tests. High-risk women may go on to have genetic testing.

Iredale and her team analyzed three studies including 1,251 women who underwent genetic testing for breast cancer. The researchers considered affects of genetic screening on the woman's level of worry, perceived risk, level of distress, and other outcomes.

They found that women who underwent genetic screening experienced less distress, better understood their risk of breast cancer, and improved their knowledge of the genetics of breast cancer. The type of health care professional a woman worked with did not affect outcome.

"What we have done is only a tiny, tiny first step in reviewing these services; they're really quite new in terms of health care provision," Iredale noted. "As more and more genes are uncovered we need to develop these services further." It will also be crucial, she said, to involve patients themselves in this process.

Iredale urges women with any level of concern about breast cancer risk to talk to a health care provider, who can make a referral her to a specialist in cancer genetic risk assessment if appropriate.

SOURCE: The Cochrane Library, April 17, 2007.