Why do experts recommend mining labels in general in genetic studies?

Gender experts in most genetic studies are no longer used to describe races.

Using race and ethnicity to describe study participants gives the false impression that people can be divided into distinct groups. Such labels are used to identify groups of people, but do not explain biological and genetic diversity, a panel from the US National Academies of Sciences, Engineering and Medicine said in a March 14 report.

In particular, the term Caucasian should no longer be used, recommends the commission. The term, coined in the 18th century by the German scientist Johann Friedrich Blumenbach, who decided to describe what was the most beautiful skull in his collection, carries a false impression of superior color, the board says.

Worse, the moniker “even today has acquired the notion of being an objective scientific term, and that’s what actually led to the project’s objection,” says Ann Morning, a sociologist at New York University and a member of the writing committee. hearing It tends to support this erroneous belief that racial categories are somehow objective and natural indications of human biological difference. We felt it was time to … go into the dustbin of history.”

Similarly, the term “black race” should not be used because it implies that black people are a distinct group, or race, that can be objectively defined, the board says.

Definitions of race are problematic “because they are not only known, but historically wrong,” says Ambroise Wonkam, a medical geneticist at Johns Hopkins University and president of the African Society of Human Genetics. A nation uses genetic diversity as a proxy many times. But gender cannot capture diversity at all. It is not a race. There is one race, the human race,” said Wonkam, who is not involved with the board of the National Academies.

Gender can be used in some studies to determine how genetic and social factors contribute to health disparities (SN: 4/5/22), but beyond that type it has no value in genetic research, Wonkam adds.

Researchers could use other identifiers, including larger geographic ones, to define the group of people being studied, Wonkam says. But those definitions need to be precise.

For example, some researchers group African languages. But a Bantu-speaking person from Tanzania or Nigeria, where malaria is endemic, would have a much higher genetic risk of developing the disease than a Bantu-speaking person whose ancestors are from South Africa, where malaria has not existed for at least 1,000 years. (Genes changes that make hemoglobin resistant to malariaSN: 5/2/11), but because of the life-threatening sickle disease.

Genetic studies must also take into account population movements and mixing between multiple groups, Wonkam says. And almost all the groups in the study should agree, he says. Current studies sometimes compare broad continental national groups, such as Asians, with national groups, such as the French or Finnish, and ethnic groups, such as the Spanish.

Argument to save type in rare cases

Removing race as a descriptor can be beneficial for some groups, such as people of African descent, says Joseph Yracheta, a health disparities researcher and executive director of the Native BioData Consortium, headquartered on the Cheyenne River Sioux reservation in South Dakota. “I understand why they want to deprive themselves of the idea of ​​race, because it is customary for them to be denied responsibilities,” he said.

But the history of the Americans is different, says Yracheta, which was not on the map. The American genius’ unique history of evolution had made them a great aid to genetic research. Starting with small populations and thousands of years of isolation from people outside the Americas, Native Americans and Indigenous people in Polynesia and Australia have given them certain genetic traits that make it easier for researchers to find variants that contribute to health or disease, he says. “We are the Rosetta stone of the rest of the planet.”

Native Americans “need to be protected because not only are our numbers small, but we retain things that have been taken from us since 1492.” We don’t want this to be another case of colonialism.” Removing the label of Indigenous or Native American can draw three realms and control over genetic information, he says.

The paper recommends that genetics researchers clearly articulate why they use a particular descriptor and involve the study population in decisions about which labels to use.

That community input is essential, Yracheta says. Legal or regulatory recommendations have no weight. The concern is therefore that this lack of teeth allows researchers to ignore the wishes of study participants without fear of punishment.

We are still looking for diversity in research participants

Genetic research has suffered from a lack of diversity among participants (SN: 3/4/21). In the face of disparities, US government guidelines require researchers from the National Institutes of Health to collect data on the race and ethnicity of study participants. But because those racial categories are too broad and don’t take into account social and environmental factors that affect health, the labels aren’t helpful in most genetic analyses, the panel concluded.

Removing national records won’t hinder diversity efforts, as researchers still seek people from different backgrounds to participate in studies, says Brendan Lee, who is president of the American Genetics Society. But taking race out of the equation should encourage researchers to think more carefully about the types of data they collect and how it can be used to support or refute racism, said Lee, a medical geneticist at Baylor College of Medicine in Houston, who was not part of the panel.

The report provides decision-making tools for determining which descriptors are appropriate for particular types of studies. But “while there’s a framework, it’s not a recipe where we do A, B and C in every study,” Lee says.

Researchers probably won’t adopt new practices right away, Lee says. “It’s a process that will take time. I don’t think it’s something in one week or one evening that we can all hope for this change, but it’s the most important thing.”