Physicians often fail to recommend genetic testing and genetic counseling for patients with breast cancer at high risk for mutations associated with ovarian and other cancers, according to new research published in JAMA.
Genetic testing of patients with breast cancer is an important model of how increasingly widespread genomic sequencing can influence treatment decision-making. Mutations in the BRCA1 and BRCA2 genes can be identified through genetic testing.
Allison W Kurian, MD, MSc, associate professor of medicine, Stanford University (California), and colleagues examined the use of genetic testing and counseling among patients with newly-diagnosed breast cancer. Researchers surveyed 2529 women with stage-0 to stage-II breast cancer two months after surgery. Survey questions included the degree to which patients wanted genetic testing, whether they talked about testing with their physician, whether they received testing, and whether they had a session with a genetic counseling expert.
Results of the survey showed that most patients (66%) reported wanting genetic testing, but only 29% reported receiving it. Eighty percent of those at high-risk for BRCA mutations wanted testing, but only 53% of such patients received a genetic test. Approximately 56% of the patients who were not tested attributed the lack of testing to the fact that it was not recommended by their physicians. Additionally, only 40% of all high-risk patients, and 60% of those high risk women who were tested, reported have a genetic counseling session.
The researchers concluded that the lack of genetic testing and counseling means women are often not learning of genetic mutations that could lead to the development of additional cancers in them or in family members who carry the same mutation.
Dr Katz noted that physicians may not adequately recognize the clinical need for genetic testing.
“It is likely that some doctors don’t realize the benefit that genetic testing provides,” she said. “They may also lack the ability to explain the testing process and results clearly with patients.” —Zachary Bessette