High-Risk Women Not Referred for Genetic Cancer Counseling

Jim Kling

July 25, 2011

July 25, 2011 — Physicians followed recommendations for breast cancer susceptibility 1 and 2 (BRCA1 and BRCA2) gene mutations in 71% of women of average risk, but only 41% of women at high risk, according to a study published online July 25 in Cancer.

For women who carry the BRCA1 or BRCA2 gene mutations, the cumulative risk of developing breast cancer by age 70 years is 57% for BRCA1 carriers and 49% for BRCA2 carriers. Ovarian cancer risks by age 70 years are 40% and 18%, respectively, write lead author Katrina F. Trivers, PhD, MSPH, from the Division of Cancer Prevention and Control, Centers for Disease Control and Prevention, Atlanta, Georgia, and colleagues.

Women whose family history suggests they may carry one of the mutations are prime candidates for genetic testing and counseling. If they test positive, they may opt for chemoprevention and/or prophylactic mastectomy and/or oophorectomy to reduce breast cancer risk by 95% and ovarian cancer risk by 80%.

The United States Preventive Services Task Force recommends that physicians refer women who have suggestive family histories to genetic counseling and evaluation, and recommends against it for women who do not have such family histories because of potential harm. The American College of Obstetrics and Gynecology recommends referral for patients deemed to have at least a 20% to 25% risk of carrying one or the other gene. The American College of Medical Genetics and the National Comprehensive Cancer Network both recommend referral for patients with breast cancer who were diagnosed before age 45 years.

To examine whether physicians follow these guidelines, the researchers conducted a vignette-based study of 3200 family physicians, general internists, and obstetrician/gynecologists, 1878 of whom (62%) responded. The survey included a vignette about a patient's annual exam. Each physician received 1 of 48 different vignettes, with variations in patient age, race, insurance status, and ovarian cancer risk.

For women of average risk, 71% of respondents adhered to recommendations against genetic counseling or testing. Predictors of adherence in these cases included black race (relative risk [RR], 1.16; 95% confidence interval [CI], 1.03 - 1.31) and Medicaid vs private insurance (RR, 1.15; 95% CI, 1.02 - 1.29).

For high-risk women, 41% of respondents adhered to recommendation. Predictors for adherence for high-risk women included younger patient age (35 vs 51 years; RR, 1.78; 95% CI, 1.41 - 2.24), physician sex (female vs male; RR, 1.30; 95% CI, 1.07 - 1.64), and obstetrician/gynecologist vs family medicine specialty (RR, 1.64; 95% CI, 1.31 - 2.05).

Correct identification of high-risk women was a strong predictor of counseling and testing referral. Physicians who identified high-risk women were 8.46 times (95% CI, 2.39 - 30.03) more likely to make a referral than physicians who misidentified high-risk women as average risk.

"Efforts are needed to encourage appropriate counseling and genetic testing for women at high risk of hereditary breast and ovarian cancer, particularly among male physicians, family physicians, and general internists. Simultaneously, efforts to discourage referral and testing among average-risk women should be implemented," the authors write.

The study was supported by the Centers for Disease Control and Prevention through the University of Washington Health Promotion Research Centers Cooperative Agreement and through the Alliance for Reducing Cancer, Northwest, which is funded by both the Centers for Disease Control and Prevention and the National Cancer Institute. The authors have disclosed no relevant financial relationships.

Cancer. Published online July 25, 2011. Abstract


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.