Armstrong Katrina, Weber Barbara, Ubel Peter A, Guerra Carmen, Schwartz J Sanford
Department of Medicine, University of Pennsylvania School of Medicine, USA.
Prev Med. 2002 Jun;34(6):590-5. doi: 10.1006/pmed.2002.1022.
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.
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.
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).
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.
在普通人群中，每1000名女性中携带乳腺癌易感基因BRCA1和BRCA2突变的不到1人。专家和专业组织建议对有携带突变风险因素的女性进行针对性检测。在未来十年，BRCA1/2检测可能会大幅降价，并进入初级保健机构，但那里的检测前咨询可能有限。
本研究的目的是调查在仅获得有限检测信息的初级保健患者中，与BRCA1/2检测意愿相关的因素。采用横断面邮寄调查。研究地点为费城地区一所大学附属的医疗系统。研究对象为400名在教员普通内科就诊的成年女性。
242名女性（71%）完成了调查；53%的受访者知晓BRCA1/2检测，58%的受访者表示如果检测方便且费用可承受，她们有兴趣接受检测。31%的受访者既知晓检测又有兴趣接受检测。检测知晓率与非裔美国人种族呈负相关（比值比[OR]0.56，95%置信区间[CI]0.38 - 0.83），与大学学历呈正相关（OR 2.21，95% CI 1.23 - 3.94）。检测意愿与乳腺癌家族史呈负相关（OR 0.45，95% CI 0.23 - 0.92），与年龄增长呈负相关（OR 0.97，95% CI 0.95 - 0.99）。在知晓检测的女性亚组中，家族史与检测意愿之间的负相关仍然存在（OR 0.55，95% CI 0.30 - 0.98）。
在初级保健人群中，非裔美国女性对BRCA1/2检测的知晓率较低，并且在仅获得有限的BRCA1/2检测信息时，携带突变风险最低的女性对接受BRCA1/2检测最感兴趣。将BRCA1/2检测引入初级保健机构面临的挑战包括限制“过度担忧者”的滥用，以及在有行之有效的癌症预防策略时，确保所有高危女性，无论种族，都能接受检测。
