Scientists call for the removal of race in genetics research

Should race be used as a variable in genetics research?

A new paper, published in the journal “Science,” says no. The authors argue that racial categories like “African American,” “Caucasian” and “Hispanic” are crude markers of human diversity and don’t offer a useful understanding of the relationship between individuals and their genes.

“In the wake of the Human Genome Project, you had scientists, like Craig Venter and Francis Collins, who called for us to move away from using racial categories,” said Michael Yudell, chair and associate professor in the Department of Community Health and Prevention at Drexel University. “Yet here we are, 15 years later, still using those.”

Yudell and his co-author, Dorothy Roberts, professor of Africana studies, law and sociology at University of Pennsylvania, say using race as a category in genetics research is problematic, especially when it comes to patient outcomes.

“For example, because of the myth that sickle cell is a black disease, or cystic fibrosis is a white disease, white patients may be under diagnosed for sickle cell and other hemoglobin diseases, and black patients have been under diagnosed for cystic fibrosis,” said Roberts.

They say human genetic diversity isn’t broken down into biologically discrete races, and when doctors look at race from a biological standpoint, rather than social, they can make these types of mistakes.

Another reason they’re calling for the removal of race from genetics research is that there are no absolute, scientifically-based, genetically determined number of races.

“Historically, there have been many different definitions of race,” said Roberts. “They also differ around the world, and so it seems very odd that scientists would use a category as a scientific term that is so fraught with confusion and ambiguity and inconsistency.”

However, within the genetics research world, the use of race as a concept persists.

“On the one hand, scientists do recognize that race is a poor proxy for measuring the difference between groups, but on the other hand, they say that it’s the best proxy we have,” said Yudell. “That contradiction, that paradox, has really been with science since the 1930s/1940s, when evolutionary biologists and population geneticists sort of re-imagined what race meant.” 

Yudell and Roberts aren’t seeking to eliminate race from all research. For example, they say social scientists should continue to study race as a social construct.

“When scientists use race as if it were a biological category in research, it sends a message to the public that we’re talking about innate differences and that these differences in health are caused by genetic differences,” said Roberts. “But the inequalities in health that we see are caused by social inequalities that we do need to address, but not by fixing people’s genes, but by addressing the social inequality that produces them.”

Yudell and Roberts suggest that scientists replace race with other variables that could help in understanding human genetic diversity.

“In our paper, we talk about the concept of ancestry,” said Yudell. “We recognize that there are risks, that by simply substituting one concept for another, that it may not work out, but we hope to at least make a very strong effort in this area.”