She was told she might have cancer: How medicine pathologizes Black patients’ normal test results

A busy medical student, Vanessa Apea wasn’t her usual energetic self. So she dragged herself to the doctor to get checked and have her blood drawn. A week later, she received a call telling her to return to the clinic; it was urgent. When she arrived, the doctor asked if she had a family history of blood or genetic disorders. Was she having shortness of breath? Were her lymph nodes enlarged? 

“At this point, I could feel myself getting really anxious,” Apea recalled. She was told that she had neutropenia — low levels of one type of infection-fighting white blood cell — and that it could be a sign of leukemia. Just 21 at the time, she was frightened, and spent much of the next week crying. 

When she returned for a follow-up visit, she saw another doctor, who happened to be Black like Apea. He told her there was no need for a bone marrow biopsy, no need for a cancer workup. “I think quite frankly, you’ve got racial neutropenia,” he said. Apea was completely healthy: She simply had a low white blood cell count that is normal for some people with African or Middle Eastern ancestry. 

Her terrifying and unnecessary health scare is a stark example of the harm caused by medicine’s reliance on norms and clinical algorithms based on the physiology of white men, and shows how they can lead to the misdiagnosis or pathologizing of people of different races and ethnicities. In some cases, the harm is too little care, such as when a race-adjusted algorithm for diagnosing kidney disease requires Black people to be much sicker than white people before they are referred to nephrologists or transplant centers. In other cases, as with the finding of low white blood cell counts in some populations, the harm is too much care.

“Our whole health care system has been set up for white men,” said Lauren Merz, a hematology/oncology fellow at Dana-Farber Cancer Institute/Mass General Brigham. “We’re all assumed to be the same as these white men. Sometimes you are, and sometimes you’re not.” Merz is working to raise awareness among colleagues and in 2021, she co-authored an editorial titled “When non-Whiteness becomes a condition” in her field’s premier journal.

The way physicians have dealt with this issue of low white blood cell counts in Black, North African, and Middle Eastern patients over time tracks closely with how race and ethnicity have been viewed in medicine and society at large. Decades ago, race adjustments were incorporated into many clinical algorithms because race was seen as biological. In the 1960s, the lower blood counts found in people with African ancestry were described as a condition found in people “with tanned skin” and dubbed “benign ethnic neutropenia.” Merz is adamant that the term be retired because it conveys the message that a healthy status in many Black people is a medical condition and in a subtle way, pathologizes being Black.

“Instead of saying this is normal for Black populations, the white gaze looked at it and said, let’s call this benign ethnic neutropenia,” she said. (Some physicians, as Apea’s did, called it racial neutropenia.) 

Equating biology and race is now seen as incorrect. Sequencing of the human genome has shown that race is not biological; people of different races can share more genetic information than people of the same race.  Not all people who are Black have the genetic variant that causes these lower white blood cell counts, while some people who may look white do. This is a crystal clear example, Merz said, of why it can be problematic to use race in medicine.

Merz urges the use of a new name for the low-blood count phenotype, coined by her and co-authors: Duffy-null associated neutrophil count, or DANC. The variant impacts neutrophils, the most common white blood cell and a first line of immune defense against infection, allowing them to more easily migrate into tissues and out of the bloodstream — accounting for the low readings on blood tests without increased risk of infection. 

The mutation seems to be protective against malaria and is found more often in people with African or Middle Eastern ancestry. A study Merz conducted found nearly 67% of Black patients have the variant.

There’s an easy test for the Duffy null variant. Any lab that does blood-type testing — which is basically any facility that does blood transfusions — can run a test to detect red blood cells lacking the Duffy protein. “It’s so easy. That’s the crazy thing,” Merz said. “It’s like $30 to $50, which in medical testing is crazy cheap. This is such low-hanging fruit.” 

But those tests aren’t done routinely, she said, leading to unnecessary follow-up procedures and anxiety. A team at Vanderbilt University Medical Center reported that African American patients with the Duffy null genotype had far more unnecessary bone marrow biopsies than those without the genotype. Another study last year showed low while blood cell counts caused by the variant were the most common reason for leukemia referrals to a children’s hospital.

Timothy Nakhla, a second-year medical student at Case Western, has been getting his blood drawn since he was a child because his low white blood cell counts concerned physicians. He’s a first-generation Egyptian American and, perhaps because his mother also had low counts and Nakhla has always been healthy, his pediatrician just kept a watchful eye on the numbers, but never ordered the simple test for the Duffy null variant.

When he transitioned out of pediatrics, his new physicians wanted more workups. In Cleveland, he was referred to hematology and received a battery of tests. One showed a slight abnormality in another type of white cell. While it didn’t seem serious, Nakhla’s anxiety spiked when his doctor said he had to discuss the results with the hospital’s tumor board, though it wasn’t technically a cancer. 

He was referred to an immunologist, and that doctor was shocked to see all the testing done on Nakhla. He ordered up the simple blood test for the Duffy null variant, and it showed there was nothing at all to worry about. “When I got the results,” Nakhla said, “I felt like I won an award.”  

Merz has seen blood test readings disrupt the lives of many patients and families. One 16-year-old high school soccer star she treated while training in Michigan had torn his ACL. His knee surgery was put off repeatedly because of a low white blood cell count that turned out to be due to his Egyptian ancestry, and he missed a whole season. “That doesn’t sound like much, but if you’re on a (sports) recruitment path, it’s huge,” said Merz. 

She also saw a 2-year-old whose family had traveled across several states for an extensive workup. She’d had what Merz called “normal kid stuff” — ear infections and strep throat — but her low white blood cell counts had her doctors at home worried, so the child had suffered through a slew of appointments and multiple bone marrow biopsies. 

Her parents had used up all of their medical leave to oversee her care, and spent most of their young daughter’s life worried she was destined to die young. “It took a one-hour appointment to find out she was fine,” said Merz. “How do you quantify that stress, that financial toxicity?” 

At the University of Michigan, which is known for research on neutrophils, Kelly Jo Walkovich, a pediatric hematologist/oncologist, gets referred many patients with low white blood cell counts — several a week from across the U.S. and Canada. Many learned about their low counts after a routine blood draw for a sports physical or anemia test and ended up having extensive workups and bone marrow draws before seeing her. Often, having scanned the internet, they come in worried they may be at risk for leukemia. 

“It’s very hard to avert your eyes from that cancer risk,” she said. A woman who traveled to Michigan from Saudi Arabia for an eye procedure had her surgery delayed for days — and thought she had cancer — because of a neutrophil count that “in her home country was assumed to be normal,” Walkovich said. “We falsely medicalized a true normal variant.” 

While some patients, even ones with the Duffy null variant, may truly have an immune disorder, most don’t. Walkovich can usually dismiss major health concerns in a short visit after running a quick test for Duffy null. Some patients arrive with nearly a dozen family members because they are fearing terrible news, she said. “Then they leave high-fiving each other and saying, ‘It’s just because we’re Black,’” she said.

She said most of her Black patients aren’t surprised to hear blood test norms are often based on data from white people. “It’s almost like it’s accepted that things don’t apply to them,” she said. 

When Merz first brought her concerns about the term benign ethnic neutropenia up at hematology meetings a few years ago, she said that as a young, blonde, female doctor, she was largely dismissed by senior colleagues. “People would say, ‘That’s cute.’ It was really patronizing,” she said. “They would say, ‘Those are just words.’ But words matter.” 

Merz refused to give up. Caring for marginalized patients is something of a family tradition. As a kid, she tagged along as her father, a family physician, saw patients at free clinics that cared for the migrant workers who picked blueberries in Michigan’s Ottawa County. Later, as a Spanish literature major in college, she thought a lot about colonialism and racism — and began to see it in medicine as she trained to become a doctor.

There’s more openness to her arguments now. Merz has the support of her professional society, even the old guard doctors who once scoffed at her campaign. She’s been granted funding for her work from the Doris Duke Foundation. 

She’s shown that it’s not that difficult for hospitals to make their own reference norms for neutrophil counts based on Duffy status, to minimize unnecessary followup testing and worry. A hospital in Atlanta that treats a larger population of Black patients, for example, might have more people with the Duffy null phenotype than a hospital in northern New Hampshire where the majority of patients are white. 

She’s working with large hospitals and smaller community clinics, trying to get electronic health records to automatically pull in the right reference ranges for their patients, and pushing to update textbooks to reflect new terminology and thinking about neutropenia. 

The low white blood cell counts of many Black patients, she said, mean many are ineligible for certain drugs that deplete white cells, such as clozapine for schizophrenia, or first-line chemotherapy agents, or they are given lower doses. One preliminary study showed Black women with Duffy null status die at disproportionately higher rates of endometrial cancer. More work is needed to understand why, but one reason may be that they are not offered the most aggressive cancer treatments. 

“To keep patients safe, we look at neutrophils, but are we working against ourselves?” Walkovich asked.

Low white blood counts may also be one of the reasons for lower participation in clinical trials by Black participants. Merz estimates that if two-thirds of the nation’s 48 million African Americans have the Duffy null genotype, some 10% of them, roughly 3 million, may have counts low enough to bar them from trials needlessly. 

The whole issue is something that Apea, the patient who was told she might have leukemia, remains upset about some 20 years later. Largely unshakable as an adult, she finds it painful to recall how frightened she was about her health for so many weeks. Now a physician and HIV specialist, Apea said she has never once heard the term racial or benign ethnic neutropenia used in Ghana, a country where she often works.

“You’ve placed norms and let people feel they are abnormal for no reason at all. It makes people feel ‘othered’” said Apea, a physician at Barts Health NHS Trust and a senior lecturer at Queen Mary University in London. “I don’t want to be left feeling there is something wrong with me because I’m a Black woman.” 

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