Breast and ovarian cancer: Doctors’ Rx for genetic testing may miss the mark

Genetic testing to check if a woman has the BRCA1 or BRCA2 mutations can be a useful tool for preventing breast cancer and ovarian cancer in some cases. But doctors might not be referring patients for such services appropriately, according to a study published Monday in the journal Cancer.

Researchers at the Centers for Disease Control and Prevention in Atlanta sent out a survey to 3,200 family and internal medicine practitioners and obstetrician/gynecologists across the U.S. They found that physicians may not recommend screening often enough in women at high risk for breast and ovarian cancers (who, guidelines stipulate, generally should be offered such services) and that doctors may recommend screening too often for women at average risk of the diseases (for whom the potential harm of undergoing screening may likely outweigh benefits).

Presented with one of several dozen hypothetical patients and asked how they would advise them during a routine annual gynecological exam, less than half of the physicians who responded to the survey -- just 41% -- said they would recommend referral for genetic counseling for a woman at high risk for the cancers, based on family and personal history. Twenty-nine percent said they would recommend the counseling for a woman at average risk.

Doctors were more likely to adhere to guidelines when examining a 35-year-old than a 51-year-old, the researchers found. Female physicians made the right recommendation more than males; ob-gyns did a better job than internists and family physicians. Urban doctors were more likely to comply with guidelines than rural doctors.

Having the BRCA1 or BRCA2 mutations dramatically increases a woman’s chance of developing breast or ovarian cancer. Women who test positive can opt for preventive (but sometimes drastic) treatments, including mastectomy or oophorectomy. But for women at average risk of the diseases, the authors wrote, genetic counseling and testing “is an inefficient use of resources, and is associated with, at most, a small clinical benefit.”


The authors recommended the development of easy-to-use tools and further education about genetic testing to help doctors assess patients’ risk and make appropriate recommendations.