NIH Record - National Institutes of Health

Genomics ‘Bold Predictions’

Two Researchers Discuss Race and Ancestry

Dr. Charmaine Royal
Dr. Charmaine Royal of Duke University

By 2030, “research in human genomics will have moved beyond population descriptors based on historical social constructs such as race,” according to the fourth of 10 bold predictions released by NHGRI. 

This prediction was discussed in a recent installment of the 10-episode “Bold Predictions for Human Genomics by 2030” seminar series. The virtual event featured two guest speakers: Dr. Genevieve Wojcik of Johns Hopkins University and Dr. Charmaine Royal of Duke University.

Wojcik conducts research to understand the role of ancestry and genetics in risk to address health inequities for diverse and admixed populations. An admixed population is one that is formed from the mixture of two previously isolated populations, whose new offspring have ancestors from multiple sources. Wojcik questioned the use of race/ethnicity to classify participants in genomic research, who are often admixed.

Graphing an individual’s genetic ancestry against their racial self-identification revealed that there is no way to discretely group people based on genetics. “There is a continuous spectrum of diversity in human variation,” she explained. “There are no real discrete cutoffs [to separate people], definitely not along national borders.” 

Wojcik cited the Hispanic/Latino group as a specific example, as people from that group can have ancestry from multiple continents (Europe, Africa and the Americas).

Dr. Genevieve Wojcik
Dr. Genevieve Wojcik of Johns Hopkins University

She also made a bolder prediction: that “research in human genetics will have rid itself of a Eurocentric bias (that is present in all areas of our research), moving beyond social constructs such as race with equity for all ancestries.” 

The term “diverse populations” is generally understood to mean non-white/non-European, and we currently have the most genomic data on people of European ancestry, even though they are not the most populous group in the world. The majority of researchers are of European descent, however, and the proportion of research in that group reflects that.

“It’s important for us to see what systems are in place that created research and a knowledge base that looks like us, the people doing the research, and not the communities we are trying to help,” Wojcik said.

Royal researches the ethical, social, scientific and clinical implications of human genetics and genomics, with particular interest in the intersection of genetics and race. She reminded viewers to look to the history of science and race as we think about how to move forward. 

Royal and several colleagues conducted a survey several years ago on scientific opinion about the biological basis of race. The survey was targeted toward genetics professionals and anthropologists. The researchers found that geneticists largely disagree with statements such as “races don’t exist” and “race has no biological basis,” while anthropologists tended to agree with the statements. Both groups tended to be in agreement, though, about replacing race with a more appropriate and precise term, and that genetic ancestry plays a role in an individual’s health.

How, then, do we integrate the useful information from race/genetic ancestry into an individual’s health care without using terminologies that invoke racial bias? Many people in the scientific community agree that the concept of race is unlikely to vanish in the near future, and race as a social construct has a significant impact on health even if it does not exist as a real genetic distinction. 

Royal also referenced an ongoing global study of different research cohorts that asked what descriptors they used for study participants. Given options such as race, ethnicity, ancestry, tribe and others, there was no clear consensus across the board. Options for self-identification vary widely across the world.

Royal’s bolder prediction expressed her aspiration that “the field of human genetics and genomics will have become a visible and credible catalyst for dismantling racism on a global scale.” Genetics and biology have historically been used at times as a cover for inhumane acts such as the Holocaust and the eugenics movement. Royal also pointed to a recent New York Times article about sickle cell trait being cited as a cause of death for Black people in police custody, even though the condition is usually benign on its own (The individuals possess only one of the variants necessary for expression of the disease).

Wojcik and Royal both expressed hope that geneticists will come together in discussion about the utility of race versus ancestry in research, and to change the way that society thinks about the two. 

“If we don’t do it,” Royal said, “who will?” 

View the full presentation at https://www.youtube.com/watch?v=vVFwdMUlDGo&list=PL1ay9ko4A8sm_n7QZ1Re0Y3fbUAvIC7VU&index=4. For details about the lecture series, visit https://www.genome.gov/event-calendar/Bold-Predictions-for-Human-Genomics-by-2030

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