“Perhaps the most important finding of our study was that in this population-based sample, in which most women were not at elevated risk for harboring a genetic mutation that would predispose them or family members to future cancers, many women expressed a desire for testing,” Dr. Jagsi said.

“We think there is an important missed opportunity because nearly half of these [women] did not have any discussion with a provider about [genetic testing]. We hope to raise awareness among clinicians that discussions about genetic risk are important even among women they might not believe to be at elevated risk, if only to explain why testing is unlikely to be helpful and reassure the patient.”

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She explained that racial and ethnic differences in care are complex and most likely reflect many factors. For example, “it may be that some providers think of genetic mutations as being implicated primarily in Ashkenazi Jewish patients and fail to recognize that such mutations are not less frequent in minority patients, so maybe it’s that providers don’t bring it up as often.”

Alternatively, “it may be that minority patients are less likely than white patients to ask their providers about these issues; it may be that the settings in which minority patients receive care are different in meaningful ways (including in terms of access to genetic counselors); or it may be related to differences in the broader social and economic circumstances faced by different women.”

“How this has affected diverse populations of women will be an important subject for future studies,” she concluded.

In an accompanying podcast, Jennifer E. Axilbund, MS, genetics counselor at the Sidney Kimmel Comprehensive Cancer Center and assistant professor of oncology at the Johns Hopkins School of Medicine in Baltimore, MD, said the study “highlights the discrepancy between perceived risk and actual risk.” 

RELATED: Breast Cancer Overdiagnosis, False Positives Linked with High Cost

Depending on race and ethnicity, up to 60% of respondents reported a strong desire for genetic testing, whereas up to only 10% might be expected to meet indications for testing, based on the hereditary component of their breast cancer.2

Ongoing media coverage of sensational issues, such as prophylactic mastectomy, results in patients being inundated with genetics information, but without context, which is reflected in the higher desire for genetic testing.

“These results illustrate that a large portion of patients with breast cancer, especially minority patients, may have questions about genetics whether or not they specifically indicate so,” Axilbund said. “Oncology providers should consider briefly discussing genetics with all patients, even if the subject is provider initiated,” with referral for genetic testing as indicated.2


  1. Jagsi R, Griffith KA, Kurian AW, et al. Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer. J Clin Oncol. April 6, 2015. [Epub ahead of print] pii: JCO.2014.58.5885.
  2. Axilbund, J. The Importance of Discussing Genetics with Every Breast Cancer Patient. J Clin Oncol. 2015; Podcast.