Women's Breast, Ovarian Cancer Genetic Testing Survey Shows Disparity between Recommendations and Practice

Many doctors do not properly adhere to current guidelines for offering breast and ovarian cancer counseling and testing services to their female patients, according to a new study from the Division of Cancer Prevention and Control at the CDC. The vignette-based national survey analyzed by the CDC finds that while genetic counseling is recommended for women at high risk for breast and/or ovarian cancer, according to the responses of 1,878 United States family physicians, general internists, and obstetrician/gynecologists, only 41% of physicians self-reported adhering to recommendations to refer for genetic counseling or testing. Major predictors of adherence to referrals for testing were younger age of patient, female physician, and obstetrician/ gynecologist versus family medicine specialty.

71% of physicians self-reported adhering to recommendations against genetic counseling or testing for average-risk women. Put another way, 29% of physicians reported that they would sometimes or always refer average-risk women for genetic counseling and testing. Predictors against referring women for genetic testing, as per current recommendations included black race of patient, Medicaid compared to private insurance, and rural versus urban location. The best predictor of recommendation adherence for all clinicians surveyed was physician-estimanted ovarian cancer risk.

The study indicates that better efforts are necessary to encourage physicians to provide genetic testing services for high-risk breast and ovarian cancer women and to discourage these servivces for average-risk women. The study is published today, July 25, 2011, online in CANCER (DOI: 10.1002/cncr.26166).

Study Rationale and Design

Because national data is lacking on whether physicians are adhering to current recommendations for genetic counseling and testing, the CDC designed a vignette-based questionaire study that included various patient ages, races, insurance status, and ovarian cancer risk. The survey was sent to 3,200 United States physicians, general internists, and obstetrician/gynecologists, of which 62% responded. The scope of the study was a nationally representative sample of physicians to ask 1) how appropriate are current genetic testing for patients, and 2) what are patient and physician predictors of adherence.

“Prior to this study, there were a handful of studies that examined physician referral to genetic counseling or testing, but this is the first to really look at appropriateness of referral to genetic counseling and testing by patient and physician characteristics. Previous estimates have typically not been nationwide, and were typically limited to specific geographic locations or institutions. Also previous literature has used a variety of methods to study the topic including physician self-report, record review, use of standardized patients, all of which contributes to variability,” said Katrina Trivers, PhD, MSPH, epidemiologist, of the CDC and lead author of the study.

“This study nicely parallels CDC’s work in other areas--essentially understanding whether or not necessary evidence-based preventive care is getting to the right women. There are important medical interventions that can dramatically decrease a high-risk woman’s chances of developing breast and ovarian cancer, therefore, appropriate identification of women at high risk is essential” says Dr. Trivers.

Interpretation and Next-Steps

It is widely recognized that women with mutations in the BRCA genes have a higher risk of developing breast and ovarian cancer. The estimation is a cumulative risk of developing breast cancer for BRCA1 and BRCA2 carriers of 57% and 49% by age 70, respectively. For ovarian cancer, the estimated risk is 40% and 18% for BRCA1 and BRCA2 carriers.

“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. Her interpretation of the results is that when high-risk women do not receive proper genetic testing, they miss out on important treatments that can significantly decrease their risk of developing cancer, up to 95% and 80% decreases in breast and ovarian cancer, respectively. Conversely, physicians who refer women of average-risk for breast and ovarian cancer are not using resources efficiently.

This study was unable to look at the actual percentage of patients that undergo genetic testing following a testing recommendation. Currently, most insurance companies cover counseling and genetic testing but the conditions under which these are covered depends on the state of residence and the type of insurance plan.

According to Dr. Trivers, the CDC has several programs in place already to address the issues uncovered in this study. The CDC funds cooperative programs with universities and state health departments to support programs in cancer genomics best practices such as “ensuring that evidence-based recommendations regarding BRCA 1 or 2 counseling and testing be implemented into public health practice” said Dr. Trivers. The CDC has also recently announced available funding for new opportunities to enhance or develop beast cancer genomics best practices via policy, surveillance, and education. Furthermore, the CDC has an “Inside Knowledge: Get the Facts About Gynecologic Cancer” Campaign that Dr. Trivers says is a “wide-reaching public and provider education and awareness campaign on the 5 main types of gynecologic cancer, including ovarian cancer. The importance of knowing your family history and, for high-risk women, of getting appropriate genetic counseling and testing is addressed in the campaign.”

Right now, it is not known how best to target and educate physicians about genetic testing for women. Insurance companies also need education and policy efforts to bring this topic to the forefront and make sure the appropriate women receive both testing and treatment.

When asked whether a followup study of patients and their perceived value of receiving genetic counseling is something that the CDC is interested in pursuing or is already pursuing, Dr. Trivers agreed. She added that “this is a good point and something that would be a very important next step: What are the barriers and facilitators to getting appropriate care? This study is merely the first step to understanding this complex issue.” Different patients may not necessarily see value in genetic testing if they feel that they are receiving proper screening for cancer and are adhering to a cancer-preventive lifestyle. Additionally, the value of the “burden of knowing” their cancer risk is likely quite different for a range of women.