Proactive genetic testing for hereditary cancer risk can help improve outcomes

Kimyatta Frazier, a New Jersey mom of one, and a registered nurse caring for infants in a neonatal intensive care unit for nearly 23 years, learned that her mother had genetic testing done while she was undergoing treatment for breast cancer, and that the tumor she had included a BRCA genetic mutation. Frazier was not sure what that meant for her, but she knew that she had to reach out to her gynecologist to learn more. She’d later find solace in a relationship with a genetic counselor at Penn Medicine, highly recommended by her gynecologist, who would be instrumental in helping her feel more in control of any future cancer diagnoses.

Kimyatta Frazier in scrubs standing in a hospital room.
Kimyatta Frazier at work taking care of NICU babies. (Image: Penn Medicine News)

Frazier, her mother, grandmother and aunts are among the many Black women who are at greater risk of being diagnosed with breast cancer—including very aggressive types such as triple negative breast cancer, which has poor survival rates. But preventative care, including genetic testing and annual screenings which can lead to earlier diagnoses, can help combat those survival rates through better disease management.

According to the Centers for Disease Control and Prevention, 5 to 10% of breast cancers occur due to hereditary risk factors.

“Family history of cancer, on either the maternal and paternal sides, is a helpful tool to assess one’s risk of a hereditary cancer, yet a genetic mutation doesn’t guarantee that a person will get cancer in their lifetime,” says Dana Farengo Clark, a senior genetic counselor at the Basser Center in Penn Medicine’s Abramson Cancer Center.

Unfortunately, Black and white women with the same risk for specific genetic breast cancer mutations do not get tested at the same rates. Compared to white women, Black women are much less likely to undergo genetic counseling and testing, largely due to differences in physician recommendations or access to care. Thus, they may not receive annual checkups or screenings, and may lack an established relationship with a doctor where they feel most comfortable to discuss emotions, thoughts, and concerns.

Frazier booked her appointment for genetic testing, and when the results came in, she says, “I was nervous and worried. Did I have cancer, a genetic mutation, or was it nothing at all?”

Clark explained that the genetic test results were negative. Frazier wondered how it could be possible considering her strong family history. Clark encouraged her to continue with routine annual mammograms and check-ups, and referred her to a high-risk breast cancer specialist, based on her family history, to discuss additional screening options like breast MRI.

While she is still concerned about the possibility of cancer in her future, Frazier is relieved not to have a mutation. She feels lucky to have been able to take this step to educate herself, seek out care, and get ahead with awareness and prevention methods. Unlike her mother, she received her genetic results before a diagnosis and feels she is a step ahead.

Read more at Penn Medicine News.