Taking Family History Seriously

With the completion of the Human Genome Project, experts forecast an era of “personalized medicine,” in which measures of individual susceptibility would be used to tailor disease prevention (1, 2). The promise is still largely in the future, but tests for BRCA mutations represent an early example of this paradigm. Mutations in the BRCA1 and BRCA2 genes confer an elevated risk for breast and ovarian cancer (3). Several preventive measures have been recommended for women with these mutations, including prophylactic surgery and aggressive early cancer screening. These recommendations were made initially on the basis of expert opinion (4). Therefore, the background review from the U.S. Preventive Services Task Force (USPSTF) in this issue (5) provides welcome documentation of a growing body of evidence showing that some of these preventive measures provide benefit. However, if women with BRCA mutations are to have the opportunity for individualized cancer prevention, we must be able to find them. The USPSTF concluded that family history can be used as a screening mechanism and offers family history criteria to identify the approximately 2% of women who could be considered for BRCA testing (6).

The criteria suggested by the USPSTF require evaluation of breast and ovarian cancer status in first- …