An Unmet Need—Discussing Genetic Risk May Benefit All Patients With Breast Cancer

Many women who are diagnosed with breast cancer are concerned about the genetic risk of developing other cancers themselves or of a loved one developing cancer. However, a large amount of those concerns are not being addressed, according to a new study.

The study, published early online in the Journal of Clinical Oncology, found that 35 percent of breast cancer patients expressed a strong desire for genetic testing, but 43 percent of those women did not have a relevant discussion with a healthcare provider.

“Our findings suggest a marked unmet need for discussion about genetic risk,” study author Reshma Jagsi, associate professor of radiation oncology at the University of Michigan Medical School, said in a statement.

Approximately 5 percent to 10 percent of patients with breast cancer have an inherited genetic mutation that drives their cancer. In addition, many women who reported interest in genetic testing were at low risk of having a mutation, and thus, doctors would not have typically discussed genetic risk with them.

“With recent judicial opinions, direct-to-consumer marketing, and celebrity reports, the public has become much more aware that genetic testing is available,” Jagsi says. “But genetic risk is complex. Even patients unlikely to have elevated genetic risk may still benefit from a discussion.”

For the study, researchers surveyed 1536 women who had been treated for breast cancer identified through the SEER databases from Detroit and Los Angeles.

The results showed that 35 percent of these women expressed a strong desire for genetic testing, 28 percent reported discussing testing with a healthcare professional, and only 19 percent reported undergoing genetic testing.

Younger women, Spanish-speaking Latinas, and those with a family history of cancer expressed the strongest desire for genetic counseling.

Minority patients were also significantly more likely to have an “unmet need for discussion” concerning genetic counseling, with results showing Spanish-speaking Latinas being nearly five times more likely to experience this unmet need compared with white, non-Spanish speaking patients.

The results also found that the patients who had a strong desire for testing reported being worried that other members of their family might get breast cancer in the future.

This worry was highest among Latinas who spoke only Spanish, with 83% reporting this concern. These women were also more likely to report worry about their own risks when evaluated in long-term follow-up as survivors.

Nearly half of those who had an unmet need for discussion about genetic testing were worried about breast cancer, and only a quarter of those who did not have an unmet need reported this worry.

In an accompanying Journal of Clinical Oncology podcast, Jennifer E. Axilbund, a genetic counselor at the Johns Hopkins Breast Center, pointed out that this study “highlights the discrepancy between perceived risk and actual risk.”

“As the participants were identified through SEER registries, one would assume that the majority of respondents were not appropriate for genetic testing,” Axilbund continued. “Yet, depending on race and ethnicity, up to 60 percent of respondents had a strong desire for genetic testing, whereas only around 10 percent would be expected to actually meet indications for testing.”

Axilbund mostly attributed this trend to the lack of understanding of breast cancer genetics and the fact that only a small percentage of breast cancers can be connected to known genetic mutations.

The study authors also attributed the desire for genetic testing to ongoing media coverage of breast cancer genetic testing.

“Much of this coverage focuses on sensational issues, such as prophylactic mastectomy in young, healthy women, rather than the limited utility of current genetic testing to truly define risk,” Axilbund said.

Therefore, all patients may benefit from a discussion of genetic risk, even if the patient is perceived to be at low risk, as this may increase education on the subject and also reduce worry, the authors concluded.

“By addressing genetic risks with patients, we can better inform them of their true risk of cancer returning or of developing a new cancer,” Jagsi says. “This could potentially alleviate worry and reduce confusion about cancer risk.”