What are the risks and benefits of genetic testing for cancer?

Knowing about the presence of a BRCA1 or BRCA2 mutation can be lifesaving. There are many interventions that can increase the chance for early diagnosis and/or lower the chances for developing cancer.

Men and women with a BRCA1 or BRCA2 mutation may:

• Choose to start screening for breast cancer at age 25
• Receive specialized breast screening that includes regular mammography and breast MRI
• Participate in screening studies that offer cutting-edge technologies
• Be screened for ovarian cancer
• May choose to have ovaries or healthy breast tissue removed to reduce risk of developing cancer
• Also be candidates for other specialized types of enhanced screening
• Receive personalized medical recommendations for overall health

The most obvious benefit of genetic testing is that it may provide more information about an individual's cancer risk, thereby facilitating decisions about surveillance and prevention. Women who test positive for a BRCA1 or BRCA2 mutation should be offered earlier and more frequent screening for breast and ovarian cancer. These women are also candidates for chemopreventative options and prophylactic surgery. At this point in time, however, there are still many unanswered questions about cancer screening and prevention for high-risk women. For example, what is the remaining risk of cancer after prophylactic mastectomy or prophylactic oophorectomy among women with BRCA mutations? How does the use of exogenous estrogen affect cancer risk in this group of women? What is the relationship between hereditary susceptibility and environmental or lifestyle risk factors? While research continues to explore these questions, any woman considering genetic testing deserves the opportunity to discuss the current state of knowledge before making her decision.

There are many benefits, risks, and limitations of genetic testing other than the impact of the results on medical choices. For many individuals, their main reason for pursuing genetic testing may be to provide further information to their family members. An individual's anticipated emotional reactions to genetic testing results should also be explored prior to testing. Some may feel that determining the underlying cause of their own cancer or family history of cancer may be a relief, while others may be concerned that they will suffer excessive anxiety, fear or guilt if they receive a positive result. Still others may be concerned about how the information will affect relationships with their family members.