Why experts recommend avoiding breed designations in genetic studies

Race should no longer be used to describe populations in most genetic studies, says an expert panel.

Using race and ethnicity to describe study participants creates the false impression that people can be divided into different groups. Such labels have been used to stigmatize groups of people but do not explain biological and genetic diversity, the panel convened by the US National Academies of Sciences, Engineering and Medicine said in a March 14 report.

In particular, the Committee recommends that the term Caucasian should no longer be used. The term, coined in the 18th century by German scientist Johann Friedrich Blumenbach to describe what he described as the finest skull in his collection, carries a misconception of white supremacy, the panel says.

Worse, the moniker “today has also taken on the connotation of an objective scientific term, and that really made the committee object to it,” says Ann Morning, a sociologist at New York University and a member of the committee, who wrote the Report. “It tends to reinforce this misconception that racial categories are somehow objective and natural characterizations of human biological differences. We felt it was a term that should… go in the dustbin of history.”

Likewise, the term “black race” should not be used because it implies that blacks are a distinct group or race that can be objectively defined, the panel said.

Race definitions are problematic “because they’re not only stigmatizing, they’re also historically incorrect,” says Ambroise Wonkam, a medical geneticist at Johns Hopkins University and president of the African Society of Human Genetics. Race is often used as a proxy for genetic diversity. But “Race cannot be used at all to capture diversity. race does not exist. There is only one race, the human race,” says Wonkam, who was not on the National Academies board.

Race could be used in some studies to determine how genetic and social factors contribute to health differences (SN: 4/5/22), but beyond that, the breed has no real value in genetic research, Wonkam adds.

Researchers could use other identifiers, including geographic ancestry, to define groups of people in the study, Wonkam says. But these definitions must be precise.

For example, some researchers group Africans by language groups. But a Bantu-speaker from Tanzania or Nigeria, where malaria is endemic, would have a much higher genetic risk of sickle cell disease than a Bantu-speaker whose ancestors came from South Africa, where malaria has been non-existent for at least 1,000 years. (Changes in genes that make hemoglobin may protect against malaria (SN: 5/2/11), but cause life-threatening sickle cell anemia.)

Genetic studies also need to account for people’s movements and cross-group mixing, Wonkam says. And labeling needs to be consistent for all groups in the study, he says. Recent studies sometimes compare continent-wide racial groups, such as Asians, with national groups, such as French or Finns, and ethnic groups, such as Hispanics.

An argument for keeping the race on rare occasions

Removing race as a descriptor may be helpful for some groups, such as people of African descent, says Joseph Yracheta, a health disparity researcher and executive director of the Native BioData Consortium based on the Cheyenne River Sioux Reservation in South Dakota. “I understand why they want to get rid of racial science for themselves because in their case it was used to deny them service,” he says.

But Native American history is different, says Yracheta, who was not part of the panel. Native Americans’ unique evolutionary history has made them a valuable resource for genetic research. A small initial population and many thousands of years of isolation from people outside the Americas have given Native Americans and Indigenous peoples in Polynesia and Australia some genetic traits that might make it easier for researchers to find variants that contribute to health or disease, he says. “We are the Rosetta Stone to the rest of the planet.”

Native Americans “need to be protected because not only are we small in numbers, but things have been taken from us constantly since 1492. We don’t want this to be another casualty of colonialism.” Removing the “Indigenous” or “Native Americans” label could undermine tribal sovereignty and control over genetic data, he says.

The panel recommends that genetic researchers should clearly state why they used a particular descriptor and involve study populations in making decisions about which labels to use.

This community contribution is essential, says Yracheta. The recommendations have no legal or regulatory weight. He therefore worries that this lack of teeth could allow researchers to ignore the wishes of study participants without fear of retribution.

Still looking for diversity in research participants

Genetic research has suffered from a lack of diversity in participants (SN: 3/4/21). To address inequalities, US government regulations require researchers funded by the National Institutes of Health to collect data on the race and ethnicity of study participants. However, because these breed categories are too broad and do not take into account the social and environmental conditions that can affect health, the labels are unhelpful in most genetic analyses, the panel concluded.

Removing racial labels won’t hamper diversity efforts, as researchers will still seek people from diverse backgrounds to participate in studies, says Brendan Lee, president of the American Society of Human Genetics. But taking race out of the equation should encourage researchers to think more carefully about the kind of data they collect and how it might be used to support or refute racism, says Lee, a medical geneticist at Baylor College of Medicine in Houston. he was not part of the panel.

The report provides decision support to determine which descriptors are appropriate for specific types of studies. But “although it’s a framework, it’s not a recipe where we do A, B, and C in every study,” says Lee.

Researchers aren’t likely to adopt the new practices right away, Lee says. “It’s a process that takes time. I don’t think we can expect to all switch to it in a week or an evening, but it’s a very important first step.”