Sickle cell anemia was first described in 1910 and was quickly labeled a “black” disease. At a time when many people were preoccupied with an imagined racial hierarchy, with whites on top, the disease was cited as evidence that people of African descent were inferior. But what of white people who presented with sickle cell anemia?
Doctors twisted themselves into knots trying to explain those cases away. White sickle cell patients must have mixed backgrounds, they contended — a black forebear they didn’t know about perhaps, or one they didn’t want to mention. Or maybe white patients’ symptoms didn’t stem from sickle cell anemia at all, but some other affliction. The bottom line was, the disease was “black,” so by definition white people couldn’t get it.
Today, scientists understand the sickle cell trait as an adaptation to malaria, not evidence of inferiority. One copy of the sickle cell trait protects against malaria. Having two can cause severe anemia and even death. Scientists also know that the trait is common outside Africa across the “malaria belt” — the Arabian Peninsula, India and parts of the Mediterranean Basin. And people historically considered white can, in fact, carry it. In the Greek town of Orchomenos, for example, the gene is more prevalent than it is among African-Americans.
We know all this, and yet the racialization of the disease, the idea that it occurs only in people of sub-Saharan African descent, persists. “When I talk to medical students, I get this all the time — ‘Sickle cell is a black trait,’ ” Michael Yudell, chairman of the department of community health and prevention at the Dornsife School of Public Health at Drexel University, told me.
That’s worrisome for many reasons, he says, chief among them that it may result in subpar medical care for some patients. Case in point: California’s universal blood disorder screening program has identified thousands of nonblack children with the sickle cell trait and scores with the disease — patients who, had doctors stuck to received “wisdom,” might have been missed.
Professor Yudell belongs to a growing chorus of scholars and researchers who argue that in science at least, we need to push past the race concept and, where possible, scrap it entirely. Professor Yudell and others contend that instead of talking about race, we should talk about ancestry (which, unlike “race,” refers to one’s genetic heritage, not innate qualities); or the specific gene variants that, like the sickle cell trait, affect disease risk; or environmental factors like poverty or diet that affect some groups more than others.
The push to retire the race concept may seem to contradict another progressive trend in medicine: increased attention to how race affects treatment. Research suggests that blacks and other minorities are less likely than whites to receive treatment for pain and fare worse in a number of medical outcomes. The issue is complex, but some scientists think that doctors’ unconscious stereotyping partly drives these disparities.
So how can we fix the issue unless we frankly acknowledge what drives it — the perception of race? Indeed, rather than discarding the idea of race, some medical schools now include “unconscious bias” training, classes in which students are essentially asked to contemplate their own often unintentional racism.
Such initiatives are not entirely incongruous with the goal of superseding race. The idea in both cases is to push beyond the clunky race labels we have inherited, as well as our own preconceptions about those labels, and to see people with greater clarity and nuance than those categories and their attendant biases generally allow.
In biology, race is roughly analogous to the idea of subspecies, and the argument over its utility for humans has some history. After championing the concept as useful for categorizing human variation in the mid-20th century, the evolutionary biologist Theodosius Dobzhansky began to see that scientists needed a more precise way to talk about human diversity, and said as much. The race concept had been used to justify so much cruelty and oppression that its value, he came to realize, was questionable.
In the decades since, others have reiterated those points. What’s new today is that modern genetic science has revealed just how arbitrary the old race categories — Negroid, Caucasoid, Mongoloid and so on — really are. Yes, there is variation in the human family, but there are few sharp divides where one set of traits ends and another begins. Rather, traits exist in gradients, reaching high frequency in some populations and lower frequency in others. As the geneticist Sarah Tishkoff of the University of Pennsylvania reminded me, human beings are too young as a species, too promiscuous and full of wanderlust, always moving and mixing, for the kind of separation and differentiation that would cause true speciation to have occurred.
The truth is that there is sometimes more variation within what we call races than there is between them. A study led by the geneticist J. Craig Venter highlights this point. He compared his genome to that of James Watson, one of the two scientists who discovered the double helix shape of DNA. Dr. Venter focused on six genes that affect how we respond to antidepressants and antipsychotics, among other drugs. Dr. Venter and Dr. Watson are “Caucasian.” Dr. Venter had two copies of a “Caucasian” variant of one of these genes, but Dr. Watson carried a version more common in East Asian populations. Judging by self-reported race, Dr. Venter noted, a doctor might prescribe Dr. Watson the wrong dose of medicine.
The takeaway from studies like this is that rather than relying on race, doctors should focus on the genes important to whatever puzzle they face — an approach often called “precision” or “personalized” medicine. The idea is that tailoring treatment to the patient’s genotype, not to skin color or hair texture, would improve outcomes.
Consider the case of kidney disease. Scientists have found that African-Americans fare worse than whites when it comes to this illness. The assumption had long been that some environmental factor explained the difference. But in recent years, scientists have linked certain variants of a gene called APOL1 to worse kidney-related outcomes. Those variants are enriched in people of African ancestry. Girish N. Nadkarni, a kidney specialist at Icahn School of Medicine at Mount Sinai in New York City, explained to me that scientists think this may be because those variants protect against the sleeping sickness endemic to some parts of Africa.
But not all African-Americans carry the variants. That is important because, in an attempt to account for the higher risk of kidney problems among African-Americans, kidney donor registries include information about race. And kidneys from “black” donors might be discarded on the assumption that they are more prone to failure. But by looking directly at whether patients and donors carried this gene variant — in particular, two copies of it — scientists at the University of Alabama at Birmingham recently found they could theoretically improve transplant outcomes. Kidneys donated from black donors that might otherwise have been discarded could, with genotyping, go to patients who needed them.
Not everyone agrees that it is possible or even desirable to completely scrap the race concept. Alex Lickerman, founder of ImagineMD, a medical concierge service in Chicago, cites the example of prostate cancer. For unclear reasons, African-Americans have a higher risk than whites. One test for the cancer, which looks at prostate-specific antigen, is controversial because it can yield false positives. Some recommend against using it at all.
But Dr. Lickerman says that merely being aware that African-Americans have a higher disease risk impels him to order the test more often for African-American patients. To his mind, the elevated risk of cancer outweighs the risk of a false positive. “Race is a crude marker, but it’s a usable marker,” he said. In that respect, it is no different from other factors doctors consider, most of which are based on imperfect studies of limited size and scope, and need to be weighed carefully.
Furthermore, we still don’t know all the genes responsible for observed health disparities. In a future “utopia,” explains Esteban Burchard, a professor of pharmaceutical sciences and medicine at the University of California, San Francisco, we’d have this information. Patients’ medical files would contain information about their unique genomes. But we’re not there yet. “We can’t even give people basic health care,” Dr. Burchard said. “Are we going to pay for everyone to get genotyped?”
In some cases, it is precisely the nongenetic aspects of race that are important in understanding what ails a patient. If you want to understand the life expectancy of people in Ferguson, Mo., for example — where the Justice Department found that the police department needed to be overhauled in part because of racial bias — it is critical to know whether the person is African-American. “Genetics don’t matter there,” Dr. Burchard said. What drives those disparities are environmental — that is, social — factors.
African-Americans, who on average have about 20 percent European ancestry, suffer from high blood pressure more often than whites do. Some studies indicate that among African-Americans, the darker one’s skin, the greater the risk of high blood pressure. The pattern could indicate that African ancestry is responsible.
Yet Africans in Africa don’t generally have high blood pressure. So some argue that the experience of having dark skin in the United States — of experiencing racism — is what’s raising blood pressure. In this case, Dr. Burchard says, even though race is a social construct, the best way to talk about the associated disease risk may be to use the labels, since the societal baggage that comes with them may be causing the problem.
But the hope is that one day we can use modern genetic tools to bypass the quagmire of race entirely. Consider the research of Alan Wu, a lab director of the Zuckerberg San Francisco General Hospital. Dr. Wu is working to improve a basic blood test that measures red blood cells, white blood cells and so forth.Currently, when it comes to ancestry, the test compares everyone’s blood against a single standard. This is a problem because what’s “normal” probably varies according to ancestry. Dr. Wu hopes to devise a version of the test that accounts for variations in blood count according to ancestry. But instead of using self-reported race as a way to specify this variation, he is trying to determine patients’ backgrounds directly with genetic testing — looking at what proportion of a person’s DNA comes from East Asia, say, or Europe.
Science seeks to categorize nature, to sort it into discrete groupings to better understand it. That is one way to comprehend the race concept: as an honest scientific attempt at understanding human variation. The problem is, the concept is imprecise. It has repeatedly slid toward pseudoscience and has become a major divider of humanity. Now, at a time when we desperately need ways to come together, there are scientists — intellectual descendants of the very people who helped give us the race concept — who want to retire it.