Olufunmilayo I. Olopade, MD: Cutting Into Breast Cancer Disparities With Genetic Testing – Everyday Health

Where some people see race, gender, and ZIP code as drivers of cancer risk, Olufunmilayo (Funmi) I. Olopade, MD, also sees DNA, RNA, and alleles the stuff of genes and genetic ancestry.

Dr. Olopades work revolves around the intersection of genetics, breast cancer, and racial health disparities. Her research on aggressive breast cancers in young Black African and Black American women has revealed variants of genetic mutations that raise risk for breast cancer and link these two communities.

The Walter L. Palmer Distinguished Service Professor of Medicine and Human Genetics and director of the Center for Clinical Cancer Genetics and Global Health at the University of Chicago Medicine, Olopade earner her MD from the University of Ibadan in Nigeria in 1980. She joined the University of Chicago faculty in 1986.

Her work on cancer risk assessment, prevention, and treatment garnered the Distinguished Clinical Scientist Award of the Doris Duke Charitable Foundation in 2000, a MacArthur Genius Fellowship in 2005, and the 2017 Mendel Medal Lecture at Villanova University.

Today, Olopade continues to build on her work by showing other researchers and clinicians how to explore ancestry-specific genetic variants that lead to breast cancer, and how to use that knowledge to tailor prevention efforts and treatment to each persons needs.

As part of Closing the Cancer Gap, a continuing series on cancer disparities, the world-renowned expert explains her quest to harness heredity and realize the promise of precision medicine for everyone, whether in Nigeria or on the South Side of Chicago.

This interview has been edited for length and clarity.

Everyday Health:You were the first person to link a mutation in the BRCA gene, known to increase risk for breast cancer, in Nigerian women to BRCA mutations in Black American women of African descent. What led to that revelation?

Olufunmilayo I. Olopade:Originally, I wasnt focused on breast cancer. I was in Chicago studying genetics and looking at lymphoma (cancer of the lymphatic system). But then I saw so many young African American women seeking bone marrow transplants because they were facing advanced breast cancers. Some were only in their twenties and came from families with a history of the disease.

I began to seek out the stories of these young women and of others, including the namesake of the Susan G. Komen Foundation (a leading organization funding breast cancer research and awareness globally). Her personal journey and those of the many women who helped the disease gain visibility were intriguing.

Then I went back to Africa and saw young women crowded into a hospital waiting room, desperately sick with advanced breast cancers. I wondered whether we could link our knowledge about the genetic basis of the aggressive breast cancers in American women to these women from Africa and of African ancestry. I felt there was an imperative here, because these fast-growing cancers, called triple-negative, contribute to a 41 percent greater risk of African American women dying from breast cancer compared with their white counterparts.

Ten to 20 percent of all breast cancers in the United States are triple-negative. These cancers are harder to control because they lack the three most common hormone receptors (proteins inside and on the surface of cells that receive messages telling cells what to do). Since many breast cancer therapies target those three receptors, we must look at other options when treating cases of triple-negative.

EH: So, the triple-negative work propelled you into studying breast cancer and genetic ancestry?

OIO: After I launched the University of Chicago Cancer Risk Clinic in 1992, my team and I spent years studying genetics and learning how to identify women at the highest risk of breast cancer. We gathered findings from a large geographical area of Africa and compared them with results found in African Americans in Chicago.

Thats how we confirmed that this specific kind of breast cancer, which shared recurrent BRCA1 (breast cancer 1) mutations, existed in extended African American families with histories of breast cancer and in Africans.

As we continued to grow our knowledge about genetics, we marked the 30th anniversary of the clinics founding in July 2022 with a name change, from the Cancer Risk Clinic to the Cancer Prevention Clinic.

The switch reflects our move beyond fundamental biology understanding how the disease works to using genetics to allow early preventive measures, while, hopefully, maintaining a focus on equity in the medical system. By that I mean ensuring that underserved and underrepresented communities are part of our studies and clinical trials, and that they have access to the genetic screening and counseling too often denied them.

EH: The American Association for Cancer Research 2022 Disparities Report notes that breast cancer is the most prevalent form of cancer among Black American women and predicts that 36,260 new cases will be diagnosed in 2022. Since BRCA genes are relatively rare, what other factors may be contributing to the large case numbers?

OIO:One of the main causes was apparent almost immediately when I first came to Chicago; the presence of two cities.

When I arrived from Nigeria in 1986, I couldnt believe the level of segregation. There were food deserts and medical deserts and insufficiencies in the health system in some South Side and West Side neighborhoods with predominantly African American residents.

There were so few pharmacists in some areas that people couldnt get the medications they needed and would run out. And the health infrastructure was so deficient that it was extremely difficult for the most vulnerable Chicagoans to stay healthy. To my surprise, this was happening in the most well-resourced and blessed country in the world.

Olufunmilayo I. Olopade, MD

Our team was able to bring in many of these people for screening. But if they needed follow-up and treatment, it became tough for them. Many had to drop out because of other issues a lack of transportation, for example, no time off for medical appointments, being a family members caregiver, as well as their inability to pay or a lack of insurance.

Unfortunately, the healthcare system is now reckoning with the general inattention to diseases that affect certain populations. Society has fragmented us into healthcare haves and have-nots.

EH: How can we improve the outcomes for underserved communities while benefiting everyone?

OIO: We have to find a way to get genetic testing done for everyone so that we can fully understand individuals risks and respond accordingly. And when someone has a greater chance of developing the disease, we need to find a way to secure a breast MRI (magnetic resonance imaging), which can pick up cancer long before a mammogram can.

Assessing risk can also help us determine whether we can and should use one of the three approved drugs shown effective in clinical trials at reducing cancer risk. Some of the answers may come from a study now underway, called the WISDOM project (Women Informed to Screen Depending on Measures of Risk), which compares the effectiveness of two approved screening approaches: annual mammograms starting at age 40 for all women versus creating a personalized risk profile and screening program.

EH: What else may be keeping us from making better progress?

OIO:If we could evaluate everyones genetic profile, we could catch the disease as early as possible instead of waiting for people to become ill. Any cancer is potentially curable if discovered early enough.

But right now, too many people dont know that genetic tests are available, too few doctors ask for them, and insurance often denies coverage. Without solving those problems, we cant take full advantage of the power of precision medicine.

EH: What do you mean by precision medicine?

OIO:Im referring to the ability to select the right drug for the right condition at the right time. Using the appropriate treatment when its most effective can help prevent and treat cancers with fewer side effects.

Genetic information enables us to determine who needs chemotherapy, which type is most effective, and when immunotherapy, for example, is more effective. Not all very early cancers are deadly. Some can be closely watched. Some need additional intervention or require a different kind of prevention.

In the next decade, I predict well see this kind of optimized treatment become available for everyone, whether in Nigeria or on the South Side of Chicago. We will make it all happen.

EH: What drew you to the field of medicine?

OIO: My father was a pastor, so when people were sick, they would come to our house for prayers. Some, of course, remained ill, and my father whose unofficial motto was health is wealth would always remark about how wonderful it would be to have a doctor in the family; someone who could provide more help to these people. He strongly encouraged me to learn about medicine.

Olufunmilayo I. Olopade, MD

Although Im the only one of six siblings who became a doctor, I have a sister whos a nurse and a daughter, one of my three children, runs a healthcare company, Cancer IQ, that has created an application to help medical providers track critical genetic information.

EH: What are your current projects and goals?

OIO: Were trying to develop better ways to assess breast cancer risk, particularly through the use of image-based biomarkers in breast MRIs.

We did a study, published in the March 2019 issue of Clinical Cancer Research, showing that scheduling two MRIs a year is preferable to a single yearly mammogram for younger women at high risk for some forms of breast cancer. But MRIs are more expensive than mammograms. And, as I said before, insurance doesnt always cover them.

When I refer to biomarkers, Im suggesting that we have the ability to do extremely accurate assessments using artificial intelligence, which can read millions of MRI images and pick out subtle changes that mammograms cant. So, from the very first screening, we can monitor these women and plan for any potential interventions, if and when they become necessary.

We also want to better understand why certain populations have much lower levels of breast cancer. Individuals of Asian or Hispanic descent, who are less prone to develop certain breast cancers, may help us pinpoint and isolate whatever particular protective factor is involved. That could potentially lead to future preventions and treatments.

And, of course, I also plan to maintain our focus on equity in access, as we continue to study the effects of new drugs on women of African descent and on the entire population. We need to ensure that we fully understand the side effects on the entire range of people taking these drugs.

Premature breast cancer death is unacceptable; too many women die too young. So, our current goal is the same as always: identify the patient, predict the risk, and prevent the cancer.

EH: Whats the most challenging part of your work?

OIO: The toughest thing you face as a doctor is losing a patient. I try to remember that there is great value in creating an end-of-life plan that diminishes pain and suffering and preserves true dignity. As doctors, we have moments of victory and moments when we are humbled by what we do, but to be present with a patient at the end is so important.

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Olufunmilayo I. Olopade, MD: Cutting Into Breast Cancer Disparities With Genetic Testing - Everyday Health