How Genetic Testing is Changing the Game for Black Women
Genetic testing is transforming women’s healthcare, especially in cancer risk assessment. By identifying genetic predispositions like BRCA mutations, women can take control of their health with proactive screenings and preventive care. This is especially crucial for Black women, who often face aggressive breast cancer diagnoses at later stages.
BlackDoctor.org interviewed Sadie Dobrozsi, a board-certified pediatric oncologist and medical director of genetic testing and oncology imaging at Evolent—a top specialty and primary care management company—to explore how genetic testing is reshaping women’s health.
Understanding BRCA Genes and Cancer Risk
BRCA1 and BRCA2 are genes responsible for producing proteins that repair damaged DNA. When these genes mutate, they fail to function correctly, significantly increasing the risk of developing breast, ovarian, and other cancers.
“The simple way I explain it is this: our bodies are made up of cells from head to toe, and within those cells, there are signals that tell them when to grow and when to stop growing. When we’re children, there are lots of signals encouraging growth,” Dr. Dobrozsi shares.
“When we become adults, our bones stop growing, our noses stop growing, and other cells receive signals to stop growth as well. These signals are controlled by genes within the cells. A tumor or cancer occurs when something changes in the cell, and the signals that tell it to grow get turned on while the signals that stop growth are lost. Many factors influence these signals, and there are numerous genes in our bodies that impact when cells grow and when they stop,” she adds.
The Importance of Cancer Screenings
Cancer screening has evolved over the last few decades.
“In general, people are familiar with screenings like colonoscopies for colon cancer, where doctors check for precancerous polyps and remove them to prevent cancer,” Dr. Dobrozsi adds. “For breast cancer, we can’t visually inspect the tissue like in a colonoscopy, but we use imaging studies to check for abnormalities. Mammograms, which are specialized X-rays of the breast, were the first widely adopted screening tool. These are recommended for women after they reach a certain age.”
However, mammograms alone aren’t sufficient to detect every case of breast cancer. That’s where MRI comes in.
“MRI provides a more detailed image of the breast and can be used in screening to detect any suspicious abnormalities that may require further investigation through a biopsy.
If you have a higher genetic predisposition to cancer or a family history, early detection is crucial. While traditional mammograms remain a cornerstone of breast cancer screening, newer techniques, such as MRIs, offer more detailed imaging,” Dr. Dobrozsi notes.
Over the last few decades, experts have refined who should be screened, what type of screening they should have, and when they should begin screening.
“Family history plays a significant role here. Women with a family history of breast cancer are at a higher risk, which has led to research identifying genetic mutations—most notably, BRCA—that increase breast cancer risk. Genetic screening helps us identify individuals at higher risk, allowing us to tailor screening recommendations,” Dr. Dobrozsi says. “Additionally, advances in genetics have made testing more accessible, so we’re more frequently identifying these genetic risks in younger people. When young adults are diagnosed, we now often screen them for mutations that increase cancer risk, which also helps inform decisions regarding their children’s health.”
Preventive Treatments
Genetic testing gives women at higher genetic risk of breast or ovarian cancer the agency to choose between preventive options.
“Science has advanced in this area. Women with high-risk mutations, such as BRCA1 and BRCA2, may be candidates for prophylactic mastectomies, which involve surgically removing the breast tissue before cancer develops. This is usually paired with reconstructive surgery for cosmetic reasons,” Dr. Dobrozsi shares. “The idea is that by removing the tissue at high risk for cancer, we can significantly reduce the likelihood of breast cancer development—by about 95 percent. However, nothing is 100 percent guaranteed. Similarly, in the case of ovarian cancer, removing the ovaries and fallopian tubes (without requiring a full hysterectomy) can reduce cancer risk.”
However, these preventive surgeries come with significant implications, including fertility challenges and the onset of early menopause.
“Preventive mastectomy or ovary removal is not an emergency decision, so it’s crucial not to rush into it. Women should take the time to educate themselves, have thorough conversations with their doctors, and consider how such surgeries will impact not just their cancer risk, but their overall quality of life,” Dr. Dobrozsi advises. “I also encourage people to reflect on what’s most important to them in life and health before consulting a doctor. Doctors can provide medical advice, but they can’t tell you what aligns with your personal values and goals. Writing down your priorities can help clarify your decision-making when faced with options like increased screening versus prophylactic surgery.”
The Role of OB-GYNs and Genetic Counselors
Genetic testing results are not always black-and-white. Many women receive results that are uncertain, leading to anxiety and confusion. This is where OB-GYNs and genetic counselors come in.
“OB-GYNs tend to stay up-to-date on genetic testing related to breast and ovarian cancer, which falls within their specialty. They’re generally better informed on the latest science and testing options,” Dr. Dobrozsi notes. Additionally, genetic counselors can walk patients through what the test results mean, what uncertainties might arise, and how to handle them. They’re invaluable for helping patients navigate this complex and sometimes anxiety-inducing process.”
Dispelling Common Misconceptions About Genetic Testing
One of the primary barriers to genetic testing is the mistrust and fear surrounding DNA analysis. Some individuals worry about how their DNA will be used or whether genetic information will be misinterpreted, as it has been historically for people of color.
However, the science is clear—there is no genetic basis for race superiority or inferiority.
“Genetically, all humans are more than 99 percent identical. We need to dispel these harmful myths because they prevent many people from accessing testing that could greatly benefit their health,” Dr. Dobrozsi shares.
Another common misconception is that genetic testing will always provide a clear yes or no answer. In reality, many people receive results that indicate a “variant of unknown significance,” meaning the implications of the findings are not yet fully understood.
“This creates anxiety for patients who expect a definitive answer. It’s important for patients to understand that uncertainty is a possibility, and they should work closely with healthcare providers to monitor developments as more research clarifies these uncertainties over time,” Dr. Dobrozsi adds.
RELATED: Genetic Testing: How Uncertain Results Impact Our Health
Advances in Genetic Testing and Cancer Prevention
Looking ahead, genetic testing is expected to become even more accessible and refined. New tests are emerging that can detect cancer markers before symptoms appear. While these tests are still in development, they hold promise for the future of cancer prevention. As the cost of testing decreases and technology improves, genetic testing will play an even more critical role in helping women take control of their health.
To stay informed about genetic testing, consult with your healthcare providers regularly about whether new tests or screening recommendations have emerged based on your family history or genetic predispositions.
“It’s always good practice to check in yearly with your doctor to see if anything has changed regarding cancer screening protocols,” Dr. Dobrozsi concludes.
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