Population Prevalence of First-Degree Family History of Breast and Ovarian Cancer in the United States: Implications for Genetic Testing§

Background: The U.S. Preventive Services Task Force (USPSTF) recommends that women whose family his- tory is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation. Methods: Using data from the 2005 National Health Interview Survey, we examined the percentage of respondents in the U.S. population who report specific first-degree family history patterns and the percentage who reported they had received testing services. Results: Overall, less than 1% of the general population (about 1.4 million persons) reported a family history of breast and ovarian cancers that would be appropriate for referral for genetic counseling and possible genetic testing for cancer sus- ceptibility. Males comprised 40% of those with a positive specified family history. The number of persons who reported having had a genetic test for breast or ovarian cancer susceptibility was very small. Conclusion: Very few of those eligible for testing actually report having been tested for breast or ovarian cancer suscepti- bility. Healthcare providers need opportunities to improve knowledge of genetics concepts and clear guidelines on the use of genetic cancer susceptibility tests.