Lack of genetic screening for cancers

By Dr. Ananya Mandal, MDJul 26 2011

In a new study published Monday in the journal Cancer, it was noted that while 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, many doctors are not referring patients.

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).

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.

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.

Dr. Katrina Trivers, the study's lead author and an epidemiologist at the CDC, said the study was not meant to be alarmist. She said, “[The 41 percent] does seem low to me but this is not a particularly straightforward study. Guidelines are complicated. It's difficult to know what makes a woman high risk. Guidelines differ on what is considered high risk.”

Dr. Virginia Kaklamani, an associate professor at Northwestern University and co-director of the Cancer Genetics Program, said that while there was no harm in a woman receiving genetic counseling, testing could be harmful because unnecessary test could just lead to increased anxieties in a patient.
Trivers said the study's results also highlighted the medical community's need to support primary-care physicians more in their understanding of risk assessment. She said tools need to be developed to educate doctors about how to assess risk accurately as well.

Beth N. Peshkin, a senior genetic counselor at Georgetown Lombardi Cancer Center, said it was reasonable to believe that doctors should adapt. “These [BRCA] genes were identified in 1994 and 1995 and guidelines have been around for years,” she said. “This study is a wakeup call to get the message out and educate physicians so they have in their arsenal the knowledge and confidence” to assess risk.

“At the end of the day, you have to be your very own advocate,” Trivers said.