Guidelines for Genetic Counseling or BRCA 1/2 Testing Are Often Ignored

Jill Stein
Published: Tuesday, Oct 25, 2011
BRCA1 protein

BRCA1 protein.

New research shows that primary care physicians in the United States adhere poorly to established guidelines urging that referral for genetic counseling and testing be offered to women who are at high risk of breast and ovarian cancer.

“This finding is concerning, given the availability of evidence-based interventions to decrease breast and ovarian cancer risk in these high-risk women,” wrote Katrina F. Trivers, PhD, MSPH, with the Centers for Disease Control and Prevention in Atlanta, Georgia, and colleagues.

Women who carry the breast cancer susceptibility 1 (BRCA1) gene mutation have a cumulative 57% and 40% risk, respectively, of developing breast cancer and ovarian cancer by age 70, while the risks are 49% and 18%, respectively, in BRCA2 carriers. However, interventions that include chemoprevention, prophylactic mastectomy, and oophorectomy can markedly reduce the incidence of both types of cancer. Multiple organizations have issued evidence-based recommendations for genetic testing and counseling for hereditary breast and ovarian cancer, including the US Preventive Services Task Force, the American College of Obstetrics and Gynecology, the American College of Medical Genetics, and the National Comprehensive Cancer Network. In general, genetic counseling and testing are recommended in women deemed high-risk because of a personal or family history of a BRCA 1/2 mutation, but are not recommended in women at average risk.

However, the investigators also found that doctors often refer average-risk women to genetic counseling and testing.

“This is an inefficient use of resources, and is associated with, at most, a small clinical benefit,” they said.

Trivers and associates analyzed responses to questionnaires completed by 1878 physicians who were a mix of the primary specialties of family medicine, general internal medicine, and obstetrics/gynecology. Participating physicians were aged <65 years and practiced in an office or hospital.

Referring average-risk women to genetic counseling and testing is an inefficient use of resources, and is associated with, at most, a small clinical benefit. ”
–Katrina F. Trivers, PhD, MSPH
The questionnaires asked physicians about the services they would provide to women during their yearly examinations, including how often they would refer women to genetic counseling or offer BRCA 1/2 testing. Questionnaires included one of 48 possible scenarios, which varied with respect to a patient’s age, race, insurance status, and ovarian cancer risk.

For high-risk women, less than half of physicians (41%) reported that they would adhere to recommendations to refer for genetic counseling or testing. Also, 29% of physicians surveyed said that they would sometimes or always refer average-risk women for genetic counseling and testing—practices that are at odds with current recommendations.

The analysis also showed that when doctors accurately estimated the risk of a patient at high risk of ovarian cancer, they were much more apt to report adherence to recommendations to offer genetic testing or counseling than if they incorrectly classified a high-risk woman as being average-risk.

Trivers and colleagues said that their study is, to their knowledge, the first to provide nationally representative estimates of selfreported adherence to genetic counseling and testing recommendations among primary care physicians in the United States. Earlier investigations were restricted to “specific clinical sites, such as academic medical institutions or to certain states, and were not widely representative.”

The researchers emphasized that efforts must be made to encourage appropriate referral for counseling and genetic testing in high-risk women and to discourage such referrals in average-risk women. In particular, these efforts should target male physicians, family physicians, and internists, as these specialties were found to be more likely to make errors in their referral practices.


Trivers KF, Baldwin LM, Miller JW, et al. Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: a vignette-based study [published online ahead of print July 25, 2011]. Cancer. doi: 10.1002/cncr.26166.



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