July 25, 2011 -- Despite evidence showing that medical interventions can significantly decrease the likelihood of breast and ovarian cancer in high-risk women, some doctors still are not adhering to guidelines referring these patients to genetic testing and counseling.
The Centers for Disease Control and Prevention called this finding "concerning" as it released a survey Monday of nearly 1,900 physicians who were asked to review hypothetical patient cases and then report whether they would or would not recommend genetic counseling and testing.
The CDC team polled doctors that had been given scenarios for patients with average risk or high risk of breast and ovarian cancer. Genetic counseling and testing is recommended for women at high risk of ovarian cancer.
Women with a close blood relative who has had breast cancer are considered high risk for the disease, and women who have had it before are considered to be at high risk of having it again. Both of these groups are recommended to have genetic testing and counseling, particularly if they are found to carry mutations in breast cancer susceptibility genes -- otherwise known as BRCA 1/2 gene mutations.
The study found that just 41 percent of physicians would have referred a high-risk patient for ovarian or breast cancer to genetic counseling and testing.
Dr. Katrina Trivers, the study's lead author and an epidemiologist at the CDC, said the study was not meant to be alarmist.
'Guidelines Are Complicated'
"[The 41 percent] does seem low to me," she said, "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."
She said that in the case of gene mutations, the number of women with BRCA 1/2 was relatively small and that knowing a person's family history of disease was incredibly important for those with BRCA 1/2 because it could mean medical interventions that could decrease a person's likelihood of getting cancer.
When it came to average-risk women, 29 percent of doctors said they would refer a patient to genetic counseling and testing. The study said this was "an inefficient use of resources."
Dr. Virginia Kaklamani, an associate professor at Northwestern University and codirector 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.
Know Your Family History ... Share With Doctor
"From the public standpoint, the most important thing to take from the [CDC's] papers is to know your family history," said the CDC's Trivers. "Not only breast and ovarian cancer. Of all cancers and other major chronic diseases. Ask questions. Get information from your family about diseases including specific types, ages when they were diagnosed. And really share that with your doctor."
She 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.
Only 34 percent of family physicians and 41 percent of general internists surveyed by the CDC followed the guidelines on assessing a high-risk patient. Previous research found that doctors often felt like they were not able to fully understand and apply the guidelines to their patients, Trivers said.
Breast, Ovarian Cancers Study: Wakeup Call
"We're not doing as good a job as we should be," Kaklamani said. "We don't ask that [family history] over and over again. That is both the doctor's and patient's fault."
Kaklamani said guidelines -- there are several different versions by various medical organizations including the National Comprehensive Cancer Network -- are published every year for doctors to learn and use.
But "everybody's so busy," she said. "I don't think physicians are as aware of guidelines. They need to learn so many things. People are not going to go to a genetics conference."
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.