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Proactive Genetic Testing for Hereditary Cancer Risk Can Help Improve Outcomes

Kimyatta Frazier taking care of a NICU baby
Kimyatta at work taking care of NICU babies, loving her job caring for others

In August 2021, Kimyatta Frazier had to say her final goodbye to her mother who lost her battle to breast cancer. Over the years, Frazier had watched her maternal grandmother be diagnosed and treated for breast cancer, and then lose several of her aunts to the disease. She felt she could meet the same fate as the matriarchs in her family, and knew she needed to figure out what to do next to prevent that outcome.

A New Jersey mom of one, and a registered nurse caring for infants in a neonatal intensive care unit for nearly 23 years, Frazier 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.

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 percent 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,” said Dana Farengo Clark, MS, LCGC, a senior genetic counselor at the Basser Center in Penn Medicine’s Abramson Cancer Center.

Frazier’s gynecologist knew that it would be in her best interest to consult with a genetic counselor considering her familial medical history and referred her to Clark. Genetic counseling is beneficial, as not all breast and ovarian cancers are caused by inherited gene mutations, and discussing test results can help with deciding on next steps for prevention and treatment.

A photograph of Kimyatta Frazier with her family members
When cancer runs in the family, genetic testing can help with identification and disease management. Kimyatta (left) with her aunt, mother, grandfather and grandmother.

The American Cancer Society’s (ACS) screening guidelines for women of average cancer risk encourage screenings, like mammograms, to begin at age 40, yet it’s fairly common for women who do not have a known family history of breast cancer to wait until closer to the age of 45 to 54 to get their first mammogram — and that delay could lead to a potential diagnosis of cancer that is farther along. For those with a family history, experts recommend speaking with a genetic counselor to explore genetic testing and the best timeframe for those assessments. In addition, ACS recommends adding Magnetic Resonance Imaging (MRI) to the screening routine for patients whose family history of cancer includes mutations of the BRCA1 or BRCA2 genes.

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.  

A second reason for this disparity connects to the genetic counseling field, which is comprised of 95 percent white females. This lack of diversity could influence patient dialogue, as health outcomes are often improved through interaction with medical professionals who come from similar backgrounds who they can relate to more personally. Furthermore, the field has traditionally been conducted in English, which can create issues for patients for whom English is not their first language. While Penn has been making strides to address these barriers, there is much more work to do to increase access to genetic counseling.

For Frazier, her genetic counselor (Clark) is white but they share a similar bond with medicine as they both work in the medical field. This common ground helped them to build a relationship that allows for dialogue, and where questions and concerns could be addressed in a comfortable manner.  

Clark said, “It’s really important for patients to feel like they are connected to their medical team through language and culture as this is where comfort is established.”

Frazier first met with Clark over Zoom during the COVID-19 pandemic to begin the process of genetic testing. She shared her concerns regarding her family history and her anxiety associated with the possibility that cancer could develop. Clark answered all of her questions and addressed her apprehensions, and explained how the test would work, and what the next steps would be if the test came back positive or negative for genetic mutations.

Frazier booked her appointment for genetic testing, and when the results came in, she said, “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.

In addition, she has engaged and encouraged other family members to get genetic testing.

“I am very fortunate to have the knowledge of my family history so that I can take action for my own health, and to help support my loved ones,” said Frazier. “While I worry that I will get cancer, I do know that I am in good hands at Penn and have an open dialogue with my medical care team to address any issues or changes that happen moving forward.”


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