Unraveling of the human genome has provided remarkable information on the genetic risk for disease. However, when an individual learns they are at high risk for a particular disease, say breast cancer, does this knowledge ease or heighten their stress and anxiety?

In an answer to this question, researchers reviewed data contained in five papers that reported trials in which a total of 1251 women were given a risk assessment that helped them understand their individual risk of getting cancer.

The scientists found services that help women understand the way their inherited genetic make-up influences the risk of getting breast cancer, serve to ease distress and decrease their levels of cancer worry.

There is, however, insufficient evidence to make recommendations about the best way of delivering these services.

Current research is revealing much about the way that a person’s genes influence their risk of breast cancer. Consequently, this is increasing the demand for information, reassurance, screening and genetic testing. The challenge is to ensure that this information is handled in ways that patients can understand, and that enables them to make informed choices.

“As the demand for cancer genetics services is likely to increase, there will be a pressing need for finding the best ways of delivering these services,” says Dr Rachel Iredale, one of the researchers on the project, who works at the Institute of Medical Genetics in Cardiff.

“The challenge is to develop cancer genetic services that adequately reassure inappropriately worried individuals while at the same time identifying those at moderate or high risk who require further information, management and support,” says co-researcher Stephanie Sivell.

A risk assessment takes time. Typically, the first step is to draw up a family tree marking on any relatives who had, or still have, breast cancer and the ages at which they were diagnosed. Women may then be placed in a low, medium or high risk group.

From here, cancer genetic services can move on to provide information and support to patients and their families, offer genetic counselling and may undertake genetic testing for women who are at increased risk of familial breast cancer.

“All of these services need to be carried out with care as genetic information touches on sensitive issues, such as reproductive decision-making, employment and insurance,” says Iredale.

Source: John Wiley & Sons, Inc.