Race, Rare Genetic Variants, and the Science of Human Difference in the Post‐Genomic Age

Abstract

Understanding of human genetic variation has grown significantly in the twenty‐first century but has not been adequately incorporated into anti‐racist anthropological perspectives. Research into the underlying structure of human disease suggests that common diseases may be caused by rare genetic variants. These variants tend to be specific to populations that are oftentimes racially defined. Consequently, genetic studies that seek to identify disease‐causing rare variants rely upon racialized frameworks. Despite social scientific perspectives that endorse a nonbiological basis to race, within biomedicine, biological uses of race remain entrenched due to their utility for identifying the causes of the disease. Anthropologists must be responsive to these utilizations of race or risk irrelevance in shaping how researchers understand and use human variation. Through critique and careful incorporation of new knowledge about the nature of human genetic variation into anthropological perspectives, anthropologists can continue to make meaningful contributions to understanding the relationship between biology and race.

Anthropological perspectives on genomic data, genetic ancestry, and race

“…Additionally, due to nonreplication and false‐positive associations within GWAS, some academics have also promoted the idea that there are meaningful biological differences between racial groups and that these differences are important to account for in biomedical studies (Reich, ; Shiao, Bode, Beyer, & Selvig, ; Smart, Tutton, Martin, Ellison, & Ashcroft, ). As researchers continue to learn about the genetic architecture underlying disease and the distribution of different types of genetic variants, that is, rare genetic variants, they also note how these genetic features differ between continental groups (Benn Torres, ). These observations also work to contribute to the idea that there are substantial biologically differences between populations and these differences correspond to race.…”

“…Where anthropologists and other academics lack consensus is how best to describe human variation. These issues highlight a problem, one that I have discussed above and in related publications in which there is a conceptual divide between how social and natural scientists conceive of and use race (Benn Torres, ; Benn Torres & Kittles, ). Regardless of the differences in how researchers approach and utilize race, the fact remains that human biological variation and racial experience play important roles in shaping the lives of people.…”

“…Much of the scholarly debate reveals that there are still issues to be resolved with how genomic data shape racial ideologies. Genetic ancestry and its relationship to race, is particularly contentious because of a complex history of race within the sciences (Benn Torres, ; Marks, ). Yet, researchers from broad disciplines use genomic data to comment about human experience, whether it is genetic identities in relation to health and disease or social identities in relation to everyday life.…”

The constraints of racialization: How classification and valuation hinder scientific research on human variation

“…Racial thinking is deeply entrenched in the science of human biological variation. In much of the anthropological and biomedical work on human variation, we see the reproduction of race categories with new terminology due to an inability to surmount racialized frameworks (Bliss, 2012; Panofsky & Bliss, 2017; Benn Torres, 2019a; Benn Torres, 2019b). As a consequence of this, scientific research has stagnated and reiterated thinly veiled race‐based groupings (Saini, 2019).…”

The COVID‐19 liquid gold rush: Critical perspectives of human milk and SARS‐CoV‐2 infection

“…Yet, anthropologists and others have produced decades of scholarship describing how science and biomedicine are inherently political and biased (Benton, 2016;Franklin, 1995;Hahn & Kleinman, 1983;Hardeman, Murphy, Karbeah, & Kozhimannil, 2018;Lock & Nguyen 2010;Martin, 2016;Rhodes, 1990;Sangaramoorthy, 2014;Skloot, 2011;Tallbear, 2013;Wilce Jr., 2003). Black, Indigenous, People of Color (BIPOC) scholars of have also drawn critical attention to how racism and anti-Blackness in science and medicine have been weaponized over centuries to maintain white supremacy through reproductive harm (Bridges, 2011;Davis-Floyd, Gutschow, & Schwartz, 2020;McLemore et al, 2019;Mullings & Wali, 2001;Owens & Fett, 2019;Roberts, 2011;Torres, 2019). COVID-19 has only amplified these biases (Hall et al, 2020), and there is mounting evidence that the science used to support perinatal separation policies for COVID-19, including strongly advising against breastfeeding or provision of human milk with SARS-CoV-2 infection (Tomori et al, 2020) are disproportionately harming BIPOC (Allers, 2020;Davis-Floyd et al, 2020;Furlow, 2020aFurlow, , 2020b; Thayer this issue).…”