Universal Genetic Testing for All Breast Cancer Patients.

Women with pathogenic BRCA1/2 mutations are more likely to develop breast cancer than are women without the mutation and they typically develop cancer at an earlier age. If women are aware of their BRCA1/2 status, however, they can make timely decisions about preventive measures such as chemoprevention with hormonal agents or undergoing prophylactic surgery, all of which have been shown to reduce the risk of cancer and overall mortality. The US Preventive Services Task Force and the National Comprehensive Cancer Network have recommended that women with a family history of breast, ovarian, and certain other cancers consider BRCA1/2 testing. Discovery of additional genes that increase breast cancer risk, coupled with the gradually decreasing cost of performing these tests, has led to the utilization of multigene panels over individual gene testing. Multigene panel testing for hereditary cancer may detect additional mutations that might possibly alter clinical management. Accuracy of current guidelines for genetic testing of breast cancer patients has become a topic of debate due to two studies suggesting these guidelines may miss half the patients with pathogenic variants or genetic mutations. Although the cost of genetic screening has dropped in recent years, there are other costs associated with population screening, including genetic counseling. There is also a lack of evidence in terms of proper procedures and risk management strategies following multigene panel testing, especially when mutations are found in moderate penetrance genes with a high percentage of Variants of Unknown SignificanceVUS and, if a mutation is discovered regarding the most accurate type of medical care. Universal genetic testing in women with newly diagnosed breast cancer has been proposed by some, stirring up strong views on both sides of the issue.