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 history 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 susceptibility. 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 susceptibility. Healthcare providers need opportunities to improve knowledge of genetics concepts and clear guidelines on the use of genetic cancer susceptibility tests.