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Why experts recommend ditching racial labels in genetic studies

TechScienceWhy experts recommend ditching racial labels in genetic studies
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A panel of experts says that race should not be used to describe populations in most genetics studies.

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

Specifically, the term Caucasian should no longer be used, the committee recommends. The panel says the term, coined in the 18th century by the German scientist Johann Friedrich Blumenbach for what he determined was the most beautiful skull in his collection, carries a false notion of white superiority.

Worse, the moniker “has acquired the meaning of being an objective scientific term even today, and it actually led the committee to object to it,” said Ann Morning, a sociologist at New York University and a member of the committee. written. Report. “It reinforces the misconception that racial categories are somehow objective and natural signs of human biological difference. We felt it was a term that should … be relegated to 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 defined objectively, the panel says.

Racial definitions are problematic “because not only are they stigmatizing, they are historically inaccurate,” says Ambrose 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 absolutely cannot be used to capture diversity. Race does not exist. There is only one race, the human race,” says Wonkam, who was not on the National Academies’ panel.

Race can be used in some studies to determine whether genetic and social factors Contribution to health disparities ,Sn: 4/5/22), but there’s no real value in genetic research beyond that race, Wonkum says.

Researchers can use other identifiers, including geographic ancestry, to define the groups of people in the study, Wonkam says. But those definitions need to be precise.

For example, some researchers group Africans by language groups. But a Bantu-speaking person from Tanzania or Nigeria, where malaria is endemic, would have a much higher genetic risk of sickle cell disease than a Bantu-speaking person whose ancestors are from South Africa, where malaria has been present for at least 1,000 years. Not there. (changes in genes that can make hemoglobin prevent malaria ,Sn: 5/2/11), but causes life-threatening sickle cell disease.)

Wonkam adds that genetic studies also account for movements of people and mixing between multiple groups. And the labeling should be consistent for all groups in the study, he says. Current studies sometimes compare continent-wide racial groups, such as Asians, with national groups such as French or Finnish, and with ethnic groups such as Hispanic.

The rationale for keeping the breed in rare cases

Removing race as a descriptor can be helpful for some groups, such as people of African descent, says Joseph Yaracheta, a health disparities researcher headquartered on the Cheyenne River Sioux Reservation in South Dakota and executive director of the Native Biodata Consortium. “I understand why they want to rid themselves of race science, because in their case it has been used to deny them services,” he says.

But the story for Native Americans is different, says Yarcheta, who was not part of the panel. The unique evolutionary history of Native Americans has made them a valuable resource for genetics research. They say that a small early population and many thousands of years of isolation from humans outside the Americas gave Native Americans and indigenous peoples in Polynesia and Australia some genetic characteristics that have made it difficult for researchers to identify variants that contribute to health or disease. Might make it easier to find. “We are the Rosetta Stone for the rest of the planet.”

Native Americans “need to be protected, because not only are we outnumbered, but things have been taken away from us since 1492. We don’t want this to be another loss of colonialism.” They say that removing the label of Indigenous or Native American could lead to loss of tribal sovereignty and control over genetic data.

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

Yacheta says community input is essential. The recommendations have no legal or regulatory weight. So they worry that this lack of teeth may allow researchers to ignore the wishes of study participants without fear of retribution.

Still looking for diversity in research participants

genetics research suffers from a lack of diversity of participants (Sn: 3/4/21, To counteract the disparities, US government regulations require researchers funded by 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 do not consider social and environmental conditions that may affect health, the labels are not helpful in most genetic analyses, the panel concluded.

Removing racial labels won’t hinder diversity efforts, says Brendan Lee, president of the American Society of Human Genetics, because researchers will still seek people of different backgrounds to participate in studies. But taking race out of the equation should encourage researchers to think more carefully about the type of data they’re collecting and whether or not it supports racism, says Lee, a medical geneticist at Baylor College of Medicine in Houston. How can it be used to refute. Not part of the panel.

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

Researchers probably won’t adopt the new practices right away, says Li. “It’s a process that will take time. I don’t think we can expect to change it all in one week or one evening, but it’s a very important first step.”

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