Contrary to recommendations by various medical organizations, a recent study suggests that physicians are not always referring women with a high risk of breast cancer to genetic counselors to learn about genetic testing and other preventive measures. Researchers found that only 41% of physicians referred high risk breast cancer patients for genetic cancer counseling. For women with only an average risk of breast cancer, physicians followed recommendations 71% of the time.

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.

Assessing Your Risk

Women whose family history suggests they may carry one of the gene mutations (BRCA1 or BRCA2) associated with a greater risk of breast cancer are considered “high risk” and prime candidates for genetic testing and counseling. If they test positive, they may opt for chemoprevention, prophylactic mastectomy, and/or oophorectomy (removal of the ovaries) which can reduce breast cancer risk by 95% and ovarian cancer risk by 80%.

For women who have these 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%, according to the Division of Cancer Prevention and Control at the CDC.

Women whose family history does not suggest that BRCA1 or BRCA2 gene mutations are present, are classified as having an average risk of developing breast cancer.

Current Referral Recommendations

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.

Counseling and Testing is Not for Everyone

Moving forward, study author, Katrina F. Trivers, PhD, MSPH said, "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.

Source:

Medscape