Breast cancer genetic testing in the general population?
Not every patient with a family history of cancer will be at high or even moderate risk for cancer. However, many factors can cause a patient to have an inflated sense of personal risk, such as first hand experience of a loved-one dying of cancer. As in other areas of medicine, such patients may need education and reassurance, in addition to a management plan to address their personal risk. Putting risks into perspective with background and other familiar risks may be helpful. Some patients may benefit from a discussion of why they do not meet testing criteria, and what professional guidelines say should be done for patients like them.
On the other hand, patients should understand that ruling out hereditary cancer does not eliminate cancer due to other causes. Patients at average risk should be educated about the background rates of cancer and screening recommendations for the general population. It can also be empowering for patients to review the lifestyle and environmental risk factors they can control.
There has been recent discussion in the medical community about the potential utility of genetic screening of the BRCA1 and BRCA2 genes in the general population. Proponents argue that individuals with limited family history or atypical presentation could benefit from an opportunity to lower their cancer risks. However, opponents argue that not enough is understood about modifying factors and gene expression in families without a strong family history of cancer. It may be that individuals without a strong family history do not have the same level of cancer risk as those who do.
For more information about when to offer BRCA1 and BRCA2 genetic testing, see NCCN guidelines and the Hereditary Breast and Ovarian Cancer syndrome factsheet.