Breast cancer patients at high risk for mutations linked to ovarian and other cancers are not getting tested as recommended — and only 60 percent of those receiving the test have a genetic counseling session that helps them understand the results, according to new research.
In addition, Asian-Americans and older women were especially likely to be “undertested,” said researchers.
The study, “Genetic Testing and Counseling Among Patients With Newly Diagnosed Breast Cancer,” appeared in JAMA.
“We found that genetic counseling and testing are not well-matched to medical need,” Allison Kurian, MD, the study’s lead author and an associate professor of medicine at Stanford University’s School of Medicine, said in a news release. “Women are very interested in genetic testing but many fail to receive it. This is particularly worrisome because it means that doctors are missing the opportunity to prevent cancers in mutation carriers and their family members.”
Genetic testing of women with breast cancer illustrates how increasingly widespread genomic sequencing can influence treatment decision-making.
Testing of two breast cancer-associated genes, BRCA1 and BRCA2, has been available for 20 years, but new technology and less restrictive patent laws have slashed the cost of genetic testing. Yet until now, experts knew little about recent patient experience with genetic testing and counseling.
Kurian and colleagues conducted surveys among 2,529 women with newly diagnosed breast cancer two months after they had surgery. The patients were asked if they wanted genetic testing and, if so, whether they had received it.
While nearly two-thirds of the women said they wanted genetic testing, only about a third had actually been tested. And although around eight in 10 women at high risk for BRCA mutations said they wanted genetic testing, just over half received the tests. In addition, 56 percent of the women who weren’t tested said their physicians had not recommend they be tested.
The researchers also found that many patients never got genetic counseling, which includes advice about the consequences and nature of the disease, advice about genetic testing and help in understanding the results of that testing. In the study, only about 40 percent of all women at high risk of BRCA mutations had access to genetic counseling, and only 60 percent those high-risk women who were tested said they had a genetic counseling session.
“Genetic testing results can affect what sort of surgery a woman may choose to treat her existing breast cancer, as well as what treatments she should pursue to reduce the risk of forming new cancers in the future,” said Reshma Jagsi, MD, PhD, professor and deputy chair of radiation oncology at the University of Michigan. “We don’t have a crystal ball, but genetic testing can be a powerful tool for certain women. It is worrisome to see so many of those women at highest risk for mutations failing even to have a visit focused on genetic counseling.”
The findings reveal that doctors often don’t educate their patients about the genetic mutations that could lead to additional cancers in them or in family members who may carry the same genetic mutation, she said. “Genetic counseling may inform women who carry a cancer-associated mutation to opt for more regular or rigorous screening, or even surgery to remove their breasts or ovaries before a cancer develops.”
Added Kurian: “It is likely that some doctors don’t realize the benefit that genetic testing provides. They may also lack the ability to explain the testing process and results clearly with patients. Priorities for the future should include strategies to expand the genetic counselor workforce and interventions to improve physicians’ skills in communication and cancer risk assessment.”