Interest in BRCA1/2 testing in a primary care population

Background: Mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 are found in less than 1/1,000 women in the general population. Experts and professional organizations recommend targeting testing to women with risk factors for carrying a mutation. Over the next decade, BRCA1/2 testing is likely to become substantially less expensive and to move into primary care practice where pretest counseling may be limited.

Methods: The objective of the study was to investigate the factors associated with interest in BRCA1/2 testing among primary care patients receiving only limited information about testing. The design was a cross-sectional mailed survey. The setting was a University-based health system in the metropolitan Philadelphia region. The participants were 400 adult women cared for in a faculty General Internal Medicine practice.

Results: Two hundred forty-two women (71%) completed surveys; 53% of respondents were aware of BRCA1/2 testing and 58% were interested in undergoing testing if it was both convenient and affordable. Thirty-one percent were both aware of and interested in testing. Awareness of testing was inversely associated with African-American race (OR 0.56, 95% CI 0.38-0.83) and positively associated with college education (OR 2.21, 95% CI 1.23-3.94). Interest in testing was inversely associated with a family history of breast cancer (OR 0.45, 95% CI 0.23-0.92) and increasing age (OR 0.97, 95% CI 0.95-0.99). The inverse association between family history and interest in testing persisted in the subgroup of women who were aware of testing (OR 0.55, 95% CI 0.30-0.98).

Conclusions: Among a primary care population, African-American women are less aware of BRCA1/2 testing and, when provided only limited information about BRCA1/2 testing, women at lowest risk of carrying a mutation are most interested in undergoing BRCA1/2 testing. Challenges of moving BRCA1/2 testing into primary care practice include both limiting indiscriminate use by the "worried well" and, as proven cancer prevention strategies become available, ensuring access to all high-risk women regardless of race.