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Using Genetic Screening and Counseling to Improve Outcomes for People with Inherited Breast Cancers

Dr. Tuya Pal, M.D., is a board-certified clinical geneticist who studies breast cancer resulting from inherited gene mutations. As part of her research, she’s working to understand and develop strategies to improve outcomes for Black women, especially young Black women, through genetic testing and counseling.

She recently talked with Susan G. Komen about the importance of genetics and ways to make genetic counseling and testing more accessible to populations who are at a higher risk, so they can make informed health decisions.

Dr. Pal was recently named a Komen Scholar – an advisory group of distinguished leaders in breast cancer research, clinical practice, public health, advocacy and other relevant fields, who provide expertise and guidance to Susan G. Komen on research and other mission programs.

Tuya Pal, M.D.

Q: Your personal interest and research have been on inherited cancer predisposition. Explain to us what that means and what you’re learning.
Genomics – the study of a person’s genes and how those genes interact with each other – represents a tremendous opportunity to improve health and reduce disparities in breast cancer outcomes. Both the BRCA1 and BRCA2 genes predispose a person to breast cancer generally at a younger age, as well as ovarian cancer. Black women tend to get breast cancer at an early age and are more likely to die from their disease. Through my work, I’ve tried to understand how genomics might contribute to breast cancer disparities in Black women, and particularly, “What are the disparities in mortality that we see in Black women with breast cancer, and particularly young Black women with breast cancer?”

We know it is not just about genetics – there are genetic and non-genetic factors that are contributing to the disparities – but we also know Black women have mutations in their BRCA genes and other inherited cancer gene mutations which, if present, raise their risk of developing breast cancer.

Q: Why is it important to focus on Black women with inherited gene mutations?
A: Black women have inherited cancer gene mutations just like women in other population groups, yet they are less aware about testing options, are referred for genetic counseling less often, and are tested less often. Black women also tend to get an aggressive type of breast cancer, called triple negative breast cancer, more often than white women. The majority of breast cancers that happen in women with a BRCA1 mutation are triple negative, again highlighting the importance of offering genetic testing for inherited breast cancer to young Black women.

Q: What are some of the obstacles to Black women understanding their inherited cancer predisposition?
We have to think about how we deliver care to these women who are at higher risk for inherited breast cancer. Genetic testing and genetic counseling help these individuals understand their risk and options to detect future cancers early or prevent them, and this information is also becoming more important to guide cancer treatment. The rates of genetic testing are lower in Black women, compared to white women, and part of this is because these women are referred for counseling and testing less often. The most important factor that contributes to women getting tested is getting a referral. Having their provider talk to them and refer them for testing and counseling, and Black women get that referral at much, much lower rates than white women.

Even when women are referred for genetic counseling, there is often a long wait time to get an appointment, in part due to the shortage of genetics professionals. So, it can sometimes be hard to access these services.

Q: What are some of the solutions you’re working on to make genetic testing and counseling more available to Black women?
We developed an interactive educational tool to be able to cover many of the components that are addressed during a genetic counseling session, per the American Society of Clinical Oncology guidelines. Now we are testing and evaluating the tool in young, Black women with breast cancer across the states of Florida and Tennessee. What we want to see is, “Is this tool sufficient to increase a woman’s knowledge and enable them to make an informed decision to move forward with genetic testing?”

Our feeling is that if we’re able to automate portions of the pretest genetic counseling session, which is the session prior to a patient getting tested, this is a scalable strategy to provide them with the information they need to make a decision to get genetic testing. Once they get back their results, they could have a more personalized discussion with a genetic counselor, with test results already in hand.

Q: It seems that accessibility to care is a common factor for so many women, whether it be accessibility to genetic testing or accessibility to quality cancer care. Beyond the tool you’ve created, what else can be done to make care more accessible to those who need it?
I feel strongly that everyone doesn’t need the same degree of support. We need to meet populations where they’re at, and how are we going to do that? It could be through IT tools, patient navigators or other resources that explain why genetic testing could be beneficial to them.

Policy is also a very important aspect to consider. For example, testing for inherited breast cancer is not covered through Medicare in individuals without a cancer diagnosis. Even if your daughter or sister has a BRCA mutation, if you are a woman with Medicare who doesn’t have cancer, genetic testing would not be covered for you. If you chose to pay for testing out of pocket and were found to have a BRCA mutation, your cancer risk management such as heightened screening or preventive surgeries may not be covered by Medicare. So that’s a gap in our system. Policy is ultimately what’s going to change things. We need to make sure that care is accessible.

*Dr. Pal is a Professor of Medicine and an Ingram Professor of Cancer Research at the Vanderbilt University Medical Center. She is also the Associate Director for Cancer Health Disparities at the Vanderbilt Ingram Cancer Center.