Among women with breast cancer, an initial diagnosis can lead to a series of complicated decisions about what options should be considered for treating the disease. Further complicating the decision-making process is that approximately 5% to 10% of patients with breast cancer have genetic mutations that predispose them to developing additional cancers. The discovery of genetic mutations can have important implications for treatment decisions after a new breast cancer diagnosis is made. Genetic test results may lead patients to choose more aggressive treatments or preventive measures.

Previous studies have explored potential barriers to genetic testing among breast cancer patients, including affordability and insurance concerns. This research has suggested that there are some misconceptions about genetic testing, which may have an effect on its use. Some patients may wish to gain more information about their genetic risks so that they can learn about interventions to help reduce future risk.

“In recent years, there has been increased awareness of genetic risks for women with breast cancer,” explains Reshma Jagsi, MD, DPhil. She notes that several recent judicial opinions, consumer marketing efforts, and celebrity reports about breast cancer have made the general public more aware that genetic testing is available.


Evaluating Preferences & Experiences

A study published in the Journal of Clinical Oncology by Dr. Jagsi and colleagues was conducted to address gaps in knowledge regarding the desire for and receipt of genetic testing in patients with breast cancer. Particular attention was paid to racial and ethnic minorities and those who were not deemed to be at high risk. The authors also examined if participants had unmet needs for discussing genetic testing when they had a strong desire to do so.

For the study, researchers surveyed more than 1,500 women diagnosed with non-metastatic breast cancer from 2005 to 2007 who were identified by the population-based SEER registries in Los Angeles and Detroit. “Overall, 35% of patients involved in our study expressed a strong desire for genetic testing,” says Dr. Jagsi. “About 28% reported that they discussed genetic testing with a healthcare professional and 19% reported receiving genetic testing.” Receipt of genetic testing was more common among white women than black women and in younger patients as well as those with a family history of cancer. Overall, a strong desire for genetic testing was more common in younger women, Latinas, and those with family history of breast cancer. Latina, Spanish-speaking women were most likely to have a strong desire for testing, followed by Latina, English-speaking women, black women, and white women. “Minority women were significantly more likely than others to have an unmet need for discussing genetic testing with healthcare providers,” Dr. Jagsi says (Table). “This meant that they didn’t talk to any provider about it despite having a strong desire for testing.”

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Addressing Worries

Almost half of the study population did not receive information about genetic testing despite being concerned about their genetic risk for other cancers. Many women who were interested in genetic testing were concerned about their own future risk of other types of cancer. A significant number of women also reported they were interested in testing because of concerns that other family members might have a genetic risk for the disease. These worries were highest among Latina, Spanish-speaking women. Overall, worry during the long-term survivorship period was higher among those with unmet needs for discussion when compared with other patient groups.

“Given the unmet need for discussions on testing and the fact that it may lead patients to worry, it’s important for clinicians to be proactive and discuss genetic risk even when patients are perceived to be at low risk,” says Dr. Jagsi. “Addressing this potential missed opportunity might go a long way toward alleviating patient concerns.” It may also reduce confusion about risks regarding subsequent cancers or disease recurrence of the primary breast cancer.


Looking Ahead

Attention to the disparities observed in the study by Dr. Jagsi and colleagues is necessary to ensure that all women who are diagnosed with breast cancer can make informed treatment decisions that are in line with patient preferences. Importantly, the study notes that genetic testing itself cannot and should not take the place of physicians and patients discussing genetic risk.

“Clinicians shouldn’t think that it’s a waste of time to talk about genetic testing when managing patients with breast cancer, even if they’re considered to be at low risk,” Dr. Jagsi says. “Genetic risk is a complex topic, but it is my opinion that all patients can still benefit from a brief discussion about testing, if only to reassure them about why we think their case is unlikely to be hereditary.”