By Megan Gannon / Source: ScientificAmerican

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More than 100 years ago, American sociologist W.E.B. Du Bois was concerned that race was being used as a biological explanation for what he understood to be social and cultural differences between different populations of people. He spoke out against the idea of “white” and “black” as discrete groups, claiming that these distinctions ignored the scope of human diversity.

Science would favor Du Bois. Today, the mainstream belief among scientists is that race is a social construct without biological meaning. And yet, you might still open a study on genetics in a major scientific journal and find categories like “white” and “black” being used as biological variables.

In an article published on Feb. 4 in the journal Science, four scholars say racial categories are weak proxies for genetic diversity and need to be phased out. [Unraveling the Human Genome: 6 Molecular Milestones]

They’ve called on the U.S. National Academies of Sciences, Engineering and Medicine to put together a panel of experts across the biological and social sciences to come up with ways for researchers to shift away from the racial concept in genetics research.

“It’s a concept we think is too crude to provide useful information, it’s a concept that has social meaning that interferes in the scientific understanding of human genetic diversity and it’s a concept that we are not the first to call upon moving away from,” said Michael Yudell, a professor of public health at Drexel University in Philadelphia.

Yudell said that modern genetics research is operating in a paradox, which is that race is understood to be a useful tool to elucidate human genetic diversity, but on the other hand, race is also understood to be a poorly defined marker of that diversity and an imprecise proxy for the relationship between ancestry and genetics.

“Essentially, I could not agree more with the authors,” said Svante Pääbo, a biologist and director of the Max Planck Institute for Evolutionary Anthropology in Germany, who worked on the Neanderthal genome but was not involved with the new paper.

“What the study of complete genomes from different parts of the world has shown is that even between Africa and Europe, for example, there is not a single absolute genetic difference, meaning no single variant where all Africans have one variant and all Europeans another one, even when recent migration is disregarded,” Pääbo told Live Science. “It is all a question of differences in how frequent different variants are on different continents and in different regions.”

In one example that demonstrated genetic differences were not fixed along racial lines, the full genomes of James Watson and Craig Venter, two famous American scientists of European ancestry, were compared to that of a Korean scientist, Seong-Jin Kim. It turned out that Watson (who, ironically, became ostracized in the scientific community after making racist remarks) and Venter shared fewer variations in their genetic sequences than they each shared with Kim.

Assumptions about genetic differences between people of different races have had obvious social and historical repercussions, and they still threaten to fuel racist beliefs. That was apparent two years ago, when several scientists bristled at the inclusion of their research in Nicholas Wade’s controversial book, “A Troublesome Inheritance” (Penguin Press, 2014), which proposed that genetic selection has given rise to distinct behaviors among different populations. In a letter to The New York Times, five researchers wrote that “Wade juxtaposes an incomplete and inaccurate account of our research on human genetic differences with speculation that recent natural selection has led to worldwide differences in IQ test results, political institutions and economic development.”

The authors of the new Science article noted that racial assumptions could also be particularly dangerous in a medical setting.

“If you make clinical predictions based on somebody’s race, you’re going to be wrong a good chunk of the time,” Yudell told Live Science. In the paper, he and his colleagues used the example of cystic fibrosis, which is underdiagnosed in people of African ancestry because it is thought of as a “white” disease. [The Best Genealogy Software for Tracing Your Family Tree]

Mindy Fullilove, a psychiatrist at Columbia University, thinks the changes proposed in the Science article are “badly needed.” Fullilove noted that by some laws in the United States, people with one black ancestor of 32 might be called “black,” but their 31 other ancestors are also important in influencing their health.

“This is a cogent and important call for us to shift our work,” Fullilove said. “It will have an enormous influence. And it will make for better science.”

So what other variables could be used if the racial concept is thrown out? Pääbo said geography might be a better substitute in regions such as Europe to define “populations” from a genetic perspective. However, he added that, in North America, where the majority of the population has come from different parts of the world during the past 300 years, distinctions like “African Americans” or “European Americans” might still work as a proxy to suggest where a person’s major ancestry originated.

Yudell also said scientists need to get more specific with their language, perhaps using terms like “ancestry” or “population” that might more precisely reflect the relationship between humans and their genes, on both the individual and population level. The researchers also acknowledged that there are a few areas where race as a construct might still be useful in scientific research: as a political and social, but not biological, variable.

“While we argue phasing out racial terminology in the biological sciences, we also acknowledge that using race as a political or social category to study racism, although filled with lots of challenges, remains necessary given our need to understand how structural inequities and discrimination produce health disparities between groups,” Yudell said

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