Mismatch between cancer genetics counseling and testing guidelines and physician practices

Women with mutations in the BRCA1 or BRCA2 gene have a substantially increased risk of developing breast and ovarian cancer, but there are medical treatments that can dramatically decrease their risk. Therefore, genetic counseling and testing are recommended for women at high risk of developing breast or ovarian cancer because of a personal or family history indicative of a BRCA 1/2 mutation; however, they are not recommended for those at average risk because the harms of treatment outweigh the benefits.

Little is known about whether physicians are adhering to recommendations related to genetic counseling and testing for women at average and high risk of ovarian cancer. To investigate, Katrina Trivers, PhD, MSPH, of the Centers for Disease Control and Prevention in Atlanta, and her colleagues surveyed 3,200 U.S. family physicians, general internists, and obstetrician-gynecologists with a questionnaire that asked about the services they would provide to women at annual exams, including how frequently they would refer women to genetic counseling or offer BRCA 1/2 testing. Scenarios in the questionnaire varied the patients' characteristics, such as age, race, insurance status, and ovarian cancer risk.

A total of 1,878 physicians (62 percent) responded to the survey. For high-risk women, less than half (41 percent) of the physicians reported that they would recommend referral for genetic counseling or testing, consistent with guidelines. Twenty-nine percent of physicians reported that they would sometimes or always refer average-risk women for genetic counseling and testing. "Despite the existence of evidence-based guidelines on referral for genetic counseling and testing for hereditary breast and ovarian cancer, many physicians report practices contrary to these recommendations," said Dr. Trivers. She noted that when high-risk women do not receive these services, they could miss out on important interventions that can decrease their risk. On the other hand, when physicians refer average-risk women for counseling and testing, this is an inefficient use of resources that is associated with, at most, a small clinical benefit.

The investigators found that physicians reported that they were more likely to follow guideline recommendations when they were able to accurately estimate their patients' risks of ovarian cancer.

Provided by Wiley