Debating Race

Y E A R B O O K O F P H Y S I C A L A N T H R O P O L O G Y A R T I C L E

Anthropological perspectives on genomic data, genetic ancestry, and race

Jada Benn Torres

Vanderbilt University, Department of

Anthropology, Nashville, Tennessee

Correspondence

Jada Benn Torres, Department of

Anthropology, Vanderbilt University, Nashville,

TN.

Email: [email protected]

Abstract

Human variation, including questions about race, have been central to biological

anthropology since its emergence as a professional discipline in the early 20th

century. More recently, genomic data have been used to address open questions

about the nature and scope of human variation. Results from genome-wide associa-

tion studies and commercially available direct-to-consumer genetic ancestry tests

have also kindled scholarly debate about the relationship between genetics/geno-

mics and race. Such discussions among scholars and other stakeholders, illustrates

that there are still many open issues about how genomic data influence the ways

that people think about and debate race and racism. Genetic ancestry remains par-

ticularly contentious because of a complicated history of race within anthropology

and other human sciences. In this article, I provide a broad overview on understand-

ings of race given the new discoveries in genetics/genomics and provide examples

of how these types of data continue to impact social and legal understandings of

race. Ultimately, given that a primary focus of biological anthropology is to query

human experience from a biological perspective, it will remain critical that biological

anthropologists uphold the anti-racist tradition of modern anthropology and dili-

gently work to shape narratives about human difference.

K E Y W O R D S

anti-racist, genetic ancestry, genetics, race

1 | INTRODUCTION

In the last 35 years there have been a variety of new scientific and

commercial applications of genetic and genomic technologies. For

example, DNA profiling had a significant impact on forensics begin-

ning in the 1980s (Gill, Jeffreys, & Werrett, 1985; Jeffreys, Wilson, &

Thein, 1985), the Human Genome project was completed in 2003

(Collins, Morgan, & Patrinos, 2003), direct-to-consumer (DTC) genetic

tests became available to consumers in the early 2000s (Rosen, 2003),

and gene therapy technology, such as mitochondrial replacement, was

successfully implemented in humans in 2016 (Zhang et al., 2016). Due

to the improved understanding of the structure and function of the

human genome there has been significant progress in a number of

other academic and applied fields. Within epidemiology, for example,

the causes and distribution of disease can be tracked in greater detail

(Millikan, 2002); in agricultural studies, genomic data allow for more

precise methodologies in food and animal production and processing

(Wang, Cao, Micl�auş, Xu, & Xiong, 2017); in forensics, genomic data

are utilized to more accurately identify and individualize people

(Kayser & Parson, 2018); and in anthropology, genomic data have

enabled the emergence of novel perspectives about human origins,

biocultural interactions, and human variation (Orlando, Gilbert, &

Willerslev, 2015).

Genomic data have impacted knowledge production and

influenced aspects of everyday life, including medicine, food produc-

tion, and even recreational activities like genealogy. The introduction

and popularity of commercially available DTC genetic ancestry tests,

in particular, has ignited scholarly debate about the relationship

Received: 30 June 2019 Revised: 4 November 2019 Accepted: 11 November 2019

DOI: 10.1002/ajpa.23979

74 © 2019 American Association of Physical Anthropologists Yearbook Phys Anthropol. 2020;171(Suppl. 70):74–86.wileyonlinelibrary.com/journal/ajpa

between genetics and identity, where identity is inclusive of race

(Benn Torres & Kittles, 2009; Foster, 2009; Khan, Nelson, Graves Jr,

Abel, & Benjamin, 2018). Race is an equivocal concept and term, with

interpretations that vary significantly through both time and space.

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, 2019; Marks, 2017). 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 identi-

ties in relation to everyday life. In particular, there are differences

in how social and biomedical researchers utilize race and these dif-

ferences are important in shaping discourses about race. In the

most general terms, social scientists tend to operationalize race as

being socially constructed embodied experience (AAPA Committee

on Diversity, 2019). As a construct, race is decidedly nonbiological,

is malleable across time and space, and is reflective of historical,

social, political, economic, and cultural contexts. As experiential and

embodied, race may be understood as sensed experiences that can

have measurable impacts on the body (Benn Torres & Torres Colón,

2015; Torres Colón, 2018; Gravlee, 2009). Within biomedicine, race

tends to be referenced in ways that highlights population substruc-

ture. Substructure occurs when there are homogenous sub-clusters

within a larger population. A focus on substructure effectively

delineates humans into genetically distinct groups that have pre-

sumed meaningful biological differences between them. These

groups are often equated to racial groups. Consequently, in bio-

medical research, study designs are often race-based or either

exclusively focused on one or several racially defined populations

(Caulfield et al., 2009; Cooper, Nadkarni, & Ogedegbe, 2018;

Neal, 2017).

Despite differences in how social and biomedical scientists

approach race as well as the development of sophisticated genomic

technologies, there is still much debate about the utility of genetic

variation for commenting on human experience. In what follows, I

provide a more in-depth review of social and biomedical approaches

to race. I also discuss social and legal impacts of these perspectives on

genomic applications with a specific focus on genetic ancestry testing.

I describe how genetic ancestry and critiques of genetic ancestry data

work to complicate notions of what race is and how it functions cul-

turally. I end with a brief discussion about scholarly engagements of

genetic data on issues of race. In an era where mis- or dis-information

can be rapidly disseminated via the internet and other social media

outlets, it is crucial that biological anthropologists are central in shap-

ing discourses about human biological variation and race. While

threats of genetic determinism, eugenics, and biological racialization

are still very potent (Krimsky & Sloan, 2011), it is important to recog-

nize that genomic data can also be understood in ways that disrupt

biologized understandings of race and have impacts on the politics of

race and racial identity. Accordingly, critical yet holistic assessments

regarding the uses of genetic data are necessary in order to avoid mis-

applications and false interpretations of genetic data.

2 | ANTHROPOLOGICAL PERSPECTIVES ON RACE

Studies of race and racial difference were central areas of inquiry

throughout the establishment of physical anthropology as a profes-

sional discipline from the late 19th through the early 20th centuries

(Shapiro, 1959; Spencer, 1981). Prior to the development of physical

anthropology as an established field, questions surrounding variation

in the natural world, inclusive of human variation, was addressed by a

number of scholars representing different fields. Travel writers, then

later naturalists, physicians, biologists, and others in related scientific

disciplines left records detailing variation they observed in plants and

animals, including humans (Keita & Boyce, 2001; Mielke, Konigsberg, &

Relethford, 2010). Based on readings of these early pieces including

those of François Beriner writing in the late 17th century, Carolus

Linneaus and Comte de Buffon both writing in the mid-8th century,

contemporary scholars have detailed how biologists understood and

classified human variation (Marks, 2008a; Mielke et al., 2010). As is

detailed in several comprehensive publications, it was the work and

influence of these early writers that led to the emergence of hierar-

chal biological race concepts (Graves, 2003, 2015; Marks, 2001;

Smedley, 1999; Sussman, 2014). As discussed by Ashley Montagu

(1942b) and later Stephen J. Gould (1994), one of the most influential

race concepts of this era was proposed by Johann Friedrich

Blumenbach (1752–1840). Though Blumenbach explicitly noted that

his categorization of humans into races was arbitrary, he is often

credited with a hierarchical categorization that places “Caucasians” as

the pinnacle human type and Africans, Asians, and Native Americans

as degenerations or departures from this pinnacle (Gould, 1994).

These unequivocally biologized ideas about the nature and value of

human variation proved to be quite influential to early physical

anthropologists with regard to questions about race (Baker, 1998;

Baker & Patterson, 1994). The writings of these early physical anthro-

pologists illustrate that “race-as-biology” paradigms were firmly

embedded in physical anthropology from the outset of the discipline.

Using approaches developed in a number of other disciplines

including but not limited to biology, psychology, history, philosophy,

and geography, the earliest physical anthropological scholars sought

to make sense of human variation and how this variation fit into the

natural world (Larsen, 2010; Shapiro, 1959). The socioeconomic and

political factors that influenced these first scholars and the lasting

ramifications of racism on the discipline have been well-documented

elsewhere (Baker, 1998; Baker & Patterson, 1994; Marks, 2017;

Smedley, 1999; Sussman, 2014). Briefly, these writings detail the

emergence and professionalization of physical (biological) anthropol-

ogy and highlight how intimate relationships between economics, pol-

itics, and culture have and continue to shape scientific practice. Many

of these narratives trace the racist scholarly traditions of early physi-

cal anthropology and, to their credit, also document the emergence of

anti-racist themes that characterizes contemporary biological anthro-

pology. In racist scholarly work, human groups were explicitly classi-

fied through biology and culture and then hierarchically arranged in

socio-evolutionary terms. Anti-racist work was conceptually counter

BENN TORRES 75

to racist notions and, while not denying the existence of race, anti-

racist scholars theorized racial equality. Aside from the more well-

known anthropologists including but not limited to Franz Boas

(1912a, 1912b), later Ashley Montagu (1942a), Frank Livingstone and

Dobzhansky (1962), and Sherwood Washburn (1963), comparatively

fewer narratives mention biological anthropologists and associated

scholars from underrepresented groups whose work engaged with

racist dogma of the time (for examples and discussions of this see

Blakey, 1987; Curwood, 2012; Harrison & Harrison, 1999; Harrison,

Johnson-Simon, & Williams, 2018; Watkins, 2007). As discussed in

these publications, scholars such as Anténor Firmin (1885), Fredrick

Douglass (1854), W.E.B. Du Bois (1897), Caroline Bond Day (1930),

and W. Montague Cobb (1934, 1939) among others, worked to dis-

rupt biological racialization or the idea that humans could systemati-

cally and reliably be divided into discrete, hierarchal racial groups.

While many of the mentioned scholars, did not, nor could not for lack

of evidence, deny a biological basis to race, they did challenge ideas

about the inherent inferiority of any human group relative to another

human group. In addition, many of these scholars attempted to impli-

cate social and environmental factors as influential in shaping human

variation, a theme which is still utilized in contemporary biocultural

anthropological work. As illustrated in the primary literature as well as

in the literature highlighting histories and philosophies of science, the

arguments about the nature of human variation were reflective of the

existing social, political, and historical contexts. Scholars, marginalized

or otherwise, were also subject to operating within those contexts

(Glick, 2008; Marks, 2008b).

Contemporary anthropologists continue to build upon and

expand the work of earlier scholars in promoting anti-racist perspec-

tives with regard to understanding human variation and the biosocial

nature of race. Concurrent with the movement away from “race-as-

biology” paradigms, anthropological discourse on human variation

increasingly relies upon evolutionary principles and adaptationist

explanations to account for human phenotypic variation as well as

variation in disease susceptibility and resistance (Fan, Hansen, Lo, &

Tishkoff, 2016; Frisancho, 2010; Jeong & Di Rienzo, 2014). One of

the more well-studied examples of human adaptation and variation is

that of skin color. Skin color has been shown to be an adaptation to

the environment (Jablonski, 2012; Jablonski & Chaplin, 2014). Accord-

ingly, dark skin is protective against cancer-inducing ultraviolet rays

from the sun and is particularly important in regions where sun expo-

sure is high, that is, near the equator. Light skin may be advantageous

in regions of the world where sun exposure is more limited. This

advantage is attributed to the production of a vitamin known as Vita-

min D3. Vitamin D3 is essential in maintaining good health, and its

production in the body begins upon exposure to sunlight (Lips, 2006).

Light skin requires less exposure time in the sun than dark skin to pro-

duce equal amounts of Vitamin D (Clemens, Adams, Henderson, &

Holick, 1982; Heaney, 2005). From the standpoint of adaptation, light

skin may be advantageous at higher latitudes where the hours of sun-

light are highly variable across the seasons. This adaptationist explana-

tion is known as the Vitamin D hypothesis. Because of the role that

skin has in maintaining health across the many different environments

that humans inhabit, contemporary anthropologists emphasize the

adaptive significance of skin color as opposed to skin color being a

physical marker indicating membership in a racial group (Jablonski &

Chaplin, 2000). Ancient DNA (aDNA) studies of early Europeans are

generally consistent with the Vitamin D hypothesis, suggesting that

selection favored lighter skin (Mathieson et al., 2015). However, some

aDNA studies also suggest that the adaption to lighter skin may have

also been the result of sexual selection (Haber, Mezzavilla, Xue, &

Tyler-Smith, 2016). This suggestion is based upon the distribution and

timing of genetic variants for phenotypes including non-brown eyes

(blue or green) and darker skin in some Mesolithic Europeans (Beleza

et al., 2013; Olalde et al., 2014). These studies indicate that lighter-

skin phenotypes have not always been common across Europe.

Evolutionary arguments similar to those about skin color have

been made to explain variation in the distribution of certain diseases

that disproportionally affect some human groups and no other groups

(Bodmer & Bonilla, 2008; Hill, 2012; Marigorta et al., 2011). Diseases

such as Sickle cell disease and Thalassemia Major disproportionally

affects African and Mediterranean populations, Cystic Fibrosis, and

Hereditary Hemochromatosis are more commonly found in European

populations, and Tay-Sachs disease commonly affects people of

Ashkenazi Jewish ancestry. In the recent past, these diseases were

considered race-specific diseases (Polednak, 1989). However, newer

research suggests that the causes of these diseases are attributed to

specific evolutionary histories and adaptations to local environments

as opposed to broader racial differences (Giordano, Harteveld, &

Bakker, 2014; Kwiatkowski, 2005). The reliance on evolutionary the-

ory and adaptationist explanations has helped to shift academic char-

acterizations toward anti-racist perspectives on broad patterns of

human variation. However, as will be mentioned in a subsequent sec-

tion, within biomedicine in particular, human genetic variation can be

viewed in manners that highlight differences between populations.

These differences between populations are consistent with broad

geographic regions and these groupings are often conflated with racial

groups (Caulfield et al., 2009; Fullwiley, 2008).

As a social construct, race is developed, sustained, structured, and

responsive to social dynamics making it malleable across time and

across space (Lee, 1993). Race is also understood to be a biocultural

phenomenon, meaning that despite it being a social construct it has

potential to influence biology (Gravlee, 2009; Jones, 2000, 2002).

Concurrent with efforts to move beyond biological explanations of

race and racial difference, anthropologists have begun to consider the

biocultural nature of race where both the social and experiential

aspects of race are considered in relation to individual and community

identities as well as health (Gravlee, 2009; Kuzawa & Gravlee, 2016;

Non & Gravlee, 2015). The approaches utilized in these studies explic-

itly go beyond a constructivist approach, where race is decidedly not

biology, but can even as a construct have profound effects on biology.

Anthropologists and other social scientists use the concept of

embodiment to theorize how social phenomena, including race,

become internalized (Csordas, 1990; Csordas & Harwood, 1994;

Mascia-Lees, 2011). In the theoretical concept of embodiment, the

focus is on the body because the body manifests sociocultural

76 BENN TORRES

phenomena. Manifestations of sociocultural phenomena can occur in

a number of ways, for example, through clothing, body modification,

posture, language use, and so forth (Mascia-Lees, 2011). Accordingly,

by focusing on the body as the unit of inquiry one can make infer-

ences about how a sociocultural phenomenon is understood, func-

tions, and is experienced (Csordas, 1990; Lock, 1993).

As the concept of embodiment applies to genetics, specifically,

quantitative genetics, embodiment can be considered the environ-

mental component in gene-by-environment interaction models.

Because the primary concern of quantitative genetics is to quantify

how variation in genotype and environment contributes to phenotypic

variation among individuals, environment and consequently the con-

cept of embodiment, becomes critical in attempts to understand the

nature of phenotypic variation. As indicated from the earliest studies

in quantitative genetics done at the turn of the 20th century, plant

and animal models have proved useful for supporting the idea that

environment is influential in shaping phenotypic variation (Lynch &

Walsh, 1998). In the context of experimental animal behavioral stud-

ies, defining and manipulating the environment is a tractable

endeavor, however, due to ethical and logistic issues, the same is not

true for humans. Environmental factors that shape phenotypic varia-

tion are varied and difficult to articulate much less quantify. Because

of the way that humans interact with and within their environments,

where environment is broadly defined and inclusive of both physical

and psychosocial elements, in practice, gene-by-environment interac-

tions are very difficult to accurately account for in human quantitative

genetics. As a consequence of this, there remain significant challenges

in accounting for embodiment in biomedical/genomic studies of

human disease. Notably, quantifying and assigning causality to envi-

ronmental factors that shape health outcomes, such as stress or racial

discrimination, remains an open and active area of research.

Despite the difficulties involved in delineating which and how

environmental factors shape both genetic and phenotypic variation,

genetic anthropologists have addressed these types of questions by

focusing on epigenetic modifications. In some of this work, anthropol-

ogists examine the genetic mechanisms that influence the relationship

between early-life adversity and health outcomes (Mulligan, 2016). In

addition to research originating from animal behavior studies and

genetic epidemiology, some genetic anthropological research also

draws on concepts and findings emerging from psychology collec-

tively dubbed social genomics. In human social genomics, environmen-

tal factors are examined in relation to changes in gene expression

(Short & Mollborn, 2015; Slavich & Cole, 2013). From the perspective

of social genomics, genetic and environmental factors interact with

one another but they are not in fact independent factors. Rather,

genetic and environmental factors have a synergistic and dynamic

relationship (Cole, 2014; Slavich & Cole, 2013). Conceptually, this is

an important distinction because it provides an explanatory frame-

work for understanding the underlying biological mechanisms that

shape health outcomes. For example, early studies in human social

genomics delineated genetic pathways between social isolation, that

is, loneliness, and increased morbidity. These studies correlated genes

that are involved in inflammation and innate immunity to isolation

(Hawkley & Cacioppo, 2010). In addition, researchers also illustrated

the potential for intergenerational inheritance of genomic modifica-

tions because of stressful environmental exposures. This phenomenon

was illustrated in a now classic study that linked negative health out-

comes within a study population to the experiences of the study

population's ancestors that had survived the WWII era Dutch famine

(Roseboom, Painter, van Abeelen, Veenendaal, & de Rooij, 2011). In

addition to genetic anthropological work that focuses on early life

adversity and health outcomes, other anthropologists examine epi-

genetic modifications of genes involved in stress response path-

ways. These studies have found significant associations between

different types of environmental and psychosocial stressors and

DNA methylation patterns (Mulligan, 2016). Collectively, these

studies illustrate the dynamic relationship between genetics and

(psychosocial) environments.

Beyond understanding how environmental factors shape geno-

types and phenotypes, applying the embodiment concept can also be

useful for understanding lived experiences including race. With regard

to race, embodiment has been employed to conceptualize how bodies

evidence ideas about human variation, inclusive of how bodies

become racialized (Ahmed, 2002; Alcoff, 2006; Ngo, 2017). The

embodiment concept has also been utilized to explore the broader

social meanings surrounding genetic testing, genetic risk, and epige-

netic inheritance (Chilibeck, Lock, & Sehdev, 2011; Darling, Ackerman,

Hiatt, Lee, & Shim, 2016; Kuzawa & Sweet, 2009; Lock, 2011; Lock,

Freeman, Chilibeck, Beveridge, & Padolsky, 2007). These studies high-

light the intersections of sociocultural, historic, political, and economic

factors with how genomic data are utilized and interpreted by scien-

tists, patients, consumers, and other laypeople. Beyond a genetic con-

text, embodiment has also been called upon to understand how race

and racism influence health outcomes (Cooper, Amoah, & Mensah,

2003; Gravlee, 2009; Kuzawa & Gravlee, 2016; Non & Gravlee,

2015). For example, in a article by Kuzawa and Sweet (2009), they

review evidence that implicates epigenetic modifications within physi-

ological stress-related pathways as potentially causative of cardiovas-

cular health disparities among North Americans. This and similar

studies work to illustrate the social origins of chronic disease as well

as work to mechanistically connect early life environmental factors

and health outcomes (Harrell et al., 2011; Kuzawa & Sweet, 2009;

Thayer & Kuzawa, 2011, 2015; Wadhwa, Buss, Entringer, & Swanson,

2009). While theory about embodiment has helped to advance

anthropological understandings of the social nature of race and how it

functions in biological contexts, much of what has been written tends

to focus on the effects of racism and other negative aspects of

racialization. However, I argue that it is also worth considering how all

experiences, both positive and negative, affect how people under-

stand and experience bodily distinction; this is what I refer to as racial

experience (Benn Torres & Torres Colón, 2015). Operationalizing race

in this manner acknowledges the reality of biological diversity as well

as the constructive nature and social salience of race. Using a frame-

work that includes and moves beyond the effects of racism also helps

to understand how sensed, embodied, and other communal experi-

ences of difference have potential to build resilience that can work to

BENN TORRES 77

buffer the effects of racism (Jackson, Jackson, & Jackson, 2018;

Mullings, 2005a; Romero, Edwards, Fryberg, & Orduña, 2014). Engag-

ing a broader perspective on race as lived experience can also lead to

a more holistic understanding of how race functions in a variety of

contexts, influencing individuals, communities, and populations.

3 | HUMAN GENETIC VARIATION AND THE CONUNDRUM OF RACE

Today, most biological anthropologists concur that contemporary

human genetic variation is the result of our evolutionary history, a his-

tory characterized by a common African origin, subsequent serial

founder effects, introgression with now-extinct hominins, periodic

geographic isolation, and nonrandom mate choice driven by varying

sociocultural factors (deMenocal & Stringer, 2016; Nielsen et al.,

2017). The outcome of this evolutionary history is that, as a species,

humans are strikingly genetically similar to each other despite the

phenotypic variation that humans exhibit (Mielke et al., 2010). Genetic

surveys aimed at assessing the overall variation of our species have

reported that most variation, about 85–90%, is found within

populations and less variation, about 10–15%, is between populations

(Witherspoon et al., 2007). While this and similar estimations of varia-

tion have been critiqued based on analytical intricacies (Long, 2009;

Long & Kittles, 2003), this finding has led some researchers to con-

clude that because most variation is within populations rather than

between populations, the notion of biologically distinct populations,

that is racial groups, is not an appropriate descriptor for characterizing

human genetic variation (AAPA Committee on Diversity, 2019;

Edgar & Hunley, 2009; Jorde et al., 2000; Lewontin, 1972). Addition-

ally, our evolutionary history has resulted in a clinal pattern of varia-

tion where genetic variants are distributed in a continuum across

geographic space (Handley, Manica, Goudet, & Balloux, 2007). In a

cline, the frequency of certain variants is high in some geographic

regions then gradually becomes less frequent as one moves away

from that region. This clinal distribution of variation shows a direct

relationship between geographic and genetic distances, that is, as geo-

graphic distances between populations increase, genetic distances

also increase between populations (Relethford & Bolnick, 2018). This

general pattern of variation occurred because individuals have gener-

ally chosen mates that are in close geographic proximity to them and

as a result, populations that are geographically proximate tend to be

genetically similar to each other.

Despite the clinal distribution of human genetic variation, varia-

tion may also be characterized as substructured, where substructure

refers to the aggregation of homogeneous clusters within a broader

population (Jobling, Hurles, & Tyler-Smith, 2013). Substructure occurs

with geographic barriers, different environmentally related selective

pressures, admixture, genetic drift, and other factors that inhibit the

random-exchange of mates across a cline (Li et al., 2008; Rosenberg

et al., 2005; Serre & Paabo, 2004). Like clinal variation, population

substructure is also reflective of the direct relationship between geo-

graphic and genetic distances, where population substructure is most

notable when considering populations from distant broad geographic

regions. In a now classic paper, Rosenberg et al. (2002) examined

general patterns of variation using genetic data from 52 global

populations. Rosenberg et al., noted genetic similarities between

human groups reiterating the observation that there is more variation

within populations as opposed to between populations. Additionally,

Rosenberg and colleagues observed a global pattern of substructure

where the study populations clustered into the following five broad

continental regions: Africa, Americas, East Asia, Europe, and Oceania.

A variety of other studies have also noted global patterns of substruc-

ture when considering geographically distant groups (Elhaik et al.,

2014; Santos et al., 2010; Shriver et al., 2004). In more recent studies

that use fine-scale, high-resolution genotyping of millions of genetic

markers, population substructure has also been detected across local

geographic regions (Novembre & Peter, 2016). In a article by Uren

et al. (2016), for example, they sought to learn more about the demo-

graphic history of the indigenous populations of southern Africa

known as the KhoeSan and the Nama. These communities have, since

the early days of the discipline, garnered great anthropological inter-

est due to their linguistic and cultural distinctions (Strkalj, 2000;

Tobias, 1985). Using several thousand genome wide markers Uren

and colleagues detected population substructure within these groups

that appears to have occurred in response to ecogeographic features

of the regions as opposed to linguistic factors or subsistence form

practiced by each community. This study was particularly insightful on

how environmental and ecological factors shape patterns of human

variation in southern Africa. Overall, this and similar studies are useful

for understanding the dynamics that mitigate mate choice and, by

extension, patterns of genetic variation at local regional levels.

In addition to examining patterns of variation, population sub-

structure has particular importance in biomedicine, specifically in

genome wide associations studies (GWAS). The primary goal in GWAS

is to identify putative genetic variants that are associated with a phe-

notypic trait of interest, such as a disease (Korte & Farlow, 2013;

Simons, Bullaughey, Hudson, & Sella, 2018). As more researchers uti-

lize GWAS in efforts to determine the genetic architecture of their

disease of interest, many of the findings failed to replicate across

populations. This problem of nonreplication suggested to some

researchers that there was the potential for significant biological dif-

ferences between populations and that race should be accounted for

in the design and application of GWAS (Li, Teo, & Tan, 2013; Sale,

Mychaleckyj, & Chen, 2009). Furthermore, researchers noted that

substructure, when uncorrected, could lead to inconsistent associa-

tions across populations, false-positive findings, and reduced statisti-

cal power (Freedman et al., 2004; Marchini, Cardon, Phillips, &

Donnelly, 2004). The effects of substructure in GWAS can be miti-

gated by using homogenous populations or by using admixture esti-

mates as a corrective factor in association analyses (Tian et al., Chao,

Gregersen, & Seldin, 2008). These particular issues with population

substructure have had ramifications on how genetic variation is

understood in relation to ideas about race.

That humans exhibit both clinal and substructured patterns of

variation is reflective of our species expansion across the globe and

78 BENN TORRES

the ways that various sociocultural factors shape mate choice. These

patterns of variation are also important when considering what genet-

ics can and cannot say about race. Given that human variation is con-

tinuous across geographic space, it follows that humans cannot

unambiguously be categorized into discrete racially distinct biological

units. However, as evidenced in the popular press, the finding that

humans also exhibit global patterns of substructure contributes to the

false idea that race has a biological, or genetic, basis. More specifically,

the five broad geographic regions noted in the Rosenberg et al. (2002)

article, has been interpreted as corresponding to racial groups reminis-

cent of 19th century ideas about human racial variation (Gannett,

2004; Wade, 2002, 2014). 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, 2018a; Shiao, Bode, Beyer, &

Selvig, 2012; Smart, Tutton, Martin, Ellison, & Ashcroft, 2008). 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, 2019). These observations also work to contribute to the

idea that there are substantial biologically differences between

populations and these differences correspond to race. Accordingly,

within biomedicine, though often ambiguously defined, race is uti-

lized as an important factor in delineating the genetic etiologies of

disease (Burchard et al., 2003; Caulfield et al., 2009).

4 | SOCIOCULTURAL IMPACTS ON HUMAN GENETIC VARIATION AND RACE

The conundrum of what race means in relation to genetics, has been

deepened with the emergence of DTC genetic ancestry tests. Genetic

ancestry tests essentially work by comparing test-takers to predefined

reference groups and using a series of algorithms to estimate similar-

ity of the test-taker to each reference group (AncestryDNA, 2018;

Bolnick et al., 2007). As argued by a number of anthropologists and

sociologists, genetic ancestry tests reify biological race. Reification

occurs when race, an abstract idea about difference, is made to

appear real, that is, more than an abstraction. Reification of biological

notions of race occurs because ancestry estimates are based on bio-

logical data and these biological data are seemingly informative about

distinctions between human groups, in this case racial groups. This

particular use of biological data can then be interpreted to mean that

racial categories are not the product of historical, political, economic,

and social factors, but instead are naturally occurring divisions within

the human species that can be quantified. Biologically based defini-

tions of race undermine contemporary understandings about the

nature of human variation. For this reason, there are scholars that

advocate rejecting genetic ancestry as meaningful for learning about

social identities (TallBear, 2013; Terrell, 2018). It follows that

employing genetic data in ways that advocate biologically defined

racial groups and marketing ancestry results in racialized terms has

the effect of supporting the misconception that humans can reliably

be divided into discrete biologically defined groups (Bolnick, 2008;

Bostancia, 2011; Duster, 2009; Fullwiley, 2008).

While the potential for the reification of biological race is a real

and grave issue, one must also consider the potential for genetic

ancestry to undermine, or at least complicate the very same ideas it

has reified. Following the racial experience framework discussed

above that considers racial experience as more than just experiences

of racism, genetic ancestry tests can reveal genetic ancestries that

challenge the consumer's ideas about the intersections between biol-

ogy and social identities. This is a particularly important issue because

it is one that increasingly has bearing on legal protections designed to

safeguard the rights of marginalized communities (Benn Torres, 2018;

Johnston, 2003; Ossorio, 2006). One example that highlights the com-

plexities brought about by genetic ancestry and its relation to notions

of race and legal protections of marginalized communities is the

recent court case of Sargent Cleon Brown (Eligon, 2017). In 2017, Sar-

gent Brown brought a civil suit against the city of Hastings, Michigan,

and 15 other defendants employed by the city or in the police depart-

ment, on the grounds of racial discrimination, harassment, retaliation,

and emotional distress. Sargent Brown self-identified as white and

upon taking a DTC ancestry test with Ancestry.com learned that he

had some proportion, 18%, of African ancestry. After sharing this

information with his co-workers, Sargent Brown was subjected to

racially charged comments, exclusion, and harassment from his col-

leagues, which ultimately led to his resignation and a federal civil

rights lawsuit against the city and police department. According to the

lawsuit, Sargent Brown sued for violation of Title VII of the Civil

Rights Act of 1964, the Civil Rights Act of 1866, the Civil Rights Act

of 1871, the Michigan Elliott-Larsen Civil Rights Act, as well as several

other laws pertaining to retaliation that Brown experienced as a result

of filing a complaint with the equal employment opportunity commis-

sion (EEOC) (Boylan, 2017). Based on his claims, Sargent Brown

requested damages in the amount of $500,000 USD. Ultimately, Sar-

gent Brown was awarded $65,000 in response to his claims against

the city and the police department (Grant, 2018; Rojas, 2018).

While this case very obviously illustrates how genetic data reifies

biological notions of race, it also highlights the experiential and social

nature of race. On the one hand, upon learning about his genetic

ancestry, Sargent Brown relied upon a biologized understanding of

race where, despite initially self-identifying as white, he equated

having African ancestry with being African American. This particular

(mis)understanding of race and genetics is clearly demonstrated

throughout his civil suit which notes, “The test <the genetic ancestry

test> revealed Plaintiff is 18% African American” and culminates when

Sargent Brown is designated as a member of a protected class, “Plan-

tiff is a member of a protected class (African American) who engaged

in protected conduct…” (Boylan, 2017, p. 11). Some DTC companies

report a percentage of ancestry from a reference population, for

example, 18% Sub-Saharan African ancestry, rather than a percentage

of someone's race. However, because Ancestry.com uses the

phrase “ethnicity estimates” to reference ancestry estimates it is

BENN TORRES 79

understandable how race can be conflated with ancestry estimates.

This is an important distinction to make because it illustrates how

DTC companies market their ancestry testing services, how con-

sumers understand genetic ancestry and, in the process, reify biologi-

cal notions of race.

On the other hand, physical and cultural features typically referenced

in folk understandings of race were not at all altered with Sargent

Brown's ancestry test. Sargent Brown's and his co-workers understanding

of Brown's social identity is what was altered upon learning about the

ancestry results. This change, predicated by the ancestry test, led Brown

to claim that he experienced racial discrimination. Sargent Brown's civil

suit illustrates that biology is not necessary or sufficient to experience

racism, but rather that it is ideas about human difference that actually

shape understandings of race. While genetic ancestry tests can reify race,

a critical perspective of these tests goes beyond the reification critique

and also reveals that these tests can disrupt biological notions of race.

Ultimately, by considering the multitude of ways in which genetic ances-

try tests are interpreted and experienced, it becomes apparent that the

impacts of genetic ancestry functions in the ways that are responsive to

current social and political contexts. In addition, this and similar cases also

highlight the need for continued scholarly attention to the intersections

of biology, race, and the law. Scholars that study human variation, in par-

ticular, must be prominent factors in informing the narratives about the

relationship between race and biology.

As demonstrated by Sargent Brown's civil suit, concerns about

genetic ancestry tests catalyzing the revitalization of biological

notions of race have merit. Academic research into the reification of

biological race and the ways in which it may, or may not, have a mea-

surable impact on people's ideas about race as well as how people

choose to self-identify is an empirical question. Anthropologists have

studied this question and report that several factors, including place of

education (e.g., Eastern or Western Europe), the time period when receiv-

ing formal education (e.g., pre- or post-World War II), discipline

(e.g., natural or social sciences), and personal background (e.g., socioeco-

nomic class, self-identified race, experience) all influence how people

define and understand race (Kaszycka et al., 2009; Wagner & Weiss,

2011). With regard to how genetic ancestry tests influence self-identifica-

tion, these studies suggest that ancestry tests do not have any significant

impact on how people self-identify, at least among reporting test-takers

(Boodman, 2017; Bostancia, 2011; Wagner, 2010; Wagner & Weiss,

2011). However, given the case of Sargent Brown, additional cross-

cultural studies utilizing a larger number of participants from diverse

backgrounds would be useful in more fully establishing a stronger under-

standing of the impact of ancestry tests on social identities.

5 | HUMAN GENETIC VARIATION AND RACE IN THE CONTEXT OF BIOMEDICAL RESEARCH

The case study and research described earlier, show that genetic

and genomic data have seeped beyond the laboratory and have some

very real social, legal, and cultural consequences. However, the

complexities surrounding race and genetics also has implications for

biomedical researchers. The ongoing debate about the relationship

between race and genetics was highlighted in the March 2018

New York Times opinion piece by Harvard geneticist, David Reich

entitled “How Genetics Is Changing Our Understanding of ‘Race’”. In

this piece, Reich begins with a description about global genetic varia-

tion, with a specific focus on average genetic differences between

populations. He cites and discusses several examples that indicate

that there may be genetic distinctions with regard to disease, cogni-

tion, and behavior, between different populations. Though Reich

acknowledges the constructivist nature of race and the potential for

misuse of scientific data, he notes, “I have deep sympathy for the con-

cern that genetic discoveries could be misused to justify racism. But

as a geneticist I also know that it is simply no longer possible to ignore

average genetic differences among ‘races’”(Reich, 2018b). In this

statement Reich, appears somewhat insincere in that he acknowl-

edges the constructive approach to race but then follows this

acknowledgment by advocating the notion that humans can be mean-

ingfully categorized into “races.” It is important to note that with this

statement, Reich does not provide any description or definition of

race, but rather leaves it as a term that readers must discern for them-

selves. Reich follows his discussion about average genetic differences

between populations with an admonition of academics, including

anthropologists, whom he claims fail to acknowledge the reality that

there are average genetic differences between populations, “… many

academics are implausibly denying the possibility of average genetic

differences among human populations…” (Reich, 2018b). Reich then

concludes that these types of denials create space for antiquated,

uninformed, and racist views to compete as seemingly reliable sources

of scientific knowledge about human difference. While Reich is not

incorrect about the misinformed competing narratives regarding

human variation, he is incorrect about academics ignoring or denying

human variation.

Within a month after the publication of Reich's op-ed, there was

a resounding response from a variety of anthropologists and sociolo-

gists, decrying his approach to human variation. According to these

critiques, Reich's piece was another iteration of scientific racism,

where despite the acknowledgment of the problematic nature of bio-

logical race, in the end biological race concepts prevailed (Khan, Nel-

son, & Graves Jr, 2018). Notwithstanding the swift and decisive

denouncement of Reich's biologizing of race by a broad spectrum of

academics with expertise in fields encompassing law, evolutionary

biology, and critical race studies, a close review of the signatories

of the critique reveal that there is a dearth of practicing geneticists.

Of the 62 signatories, four (DeSalle, Graves, Gokcumen, and Royal)

have some direct affiliation with genetics/genomics within their research

agendas as evidenced by their reported affiliations and recent publica-

tions. Geneticists, specifically genetic anthropologists, presumably

would be the group of scholars that would or should have the most to

say about the relationship between race and genetics. Rather than lay

blame toward any individual or set of scholars, this lack of input from

geneticists illustrates the difficulty of transdisciplinary research and

communication, especially between biological and social scientists.

80 BENN TORRES

In addition, there are precedents for these types of broad, inclusive

transdisciplinary responses to controversial publications such as

the responses to Nicholas Wade's (2014) book from a variety of

researchers (Caspari, 2014; Coop, Eisen, Nielsen, Przeworski, &

Rosenburg, 2014; Fuentes, 2014). The difficulties of producing broad

transdisciplinary responses also reflect a lack of consensuses among

geneticists about the value and utility of race within their research.

This lack of consensus has been recently documented in a survey

study by Nelson et al. (2018). In this study, Nelson et al., applied con-

tent analysis to survey responses about race within the context of

medicine, science, and society from 500 genetics professionals. The

overall conclusion of this survey study was that though constructivist

notions of race are gaining traction within biomedicine and related sci-

ences, the meaning and utility of race remains unsettled across disci-

plines (Nelson et al., 2018). Regardless, as mentioned in the critiques

to Reich's piece, biological anthropologists, in general, do recognize

that variation exists and that variation is a result of several evolution-

ary and adaptive responses (Edgar & Hunley, 2009). Where anthropol-

ogists and other academics lack consensus is how best to describe

human variation. These issues highlight a problem, one that I have dis-

cussed above and in related publications in which there is a concep-

tual divide between how social and natural scientists conceive of and

use race (Benn Torres, 2019; Benn Torres & Kittles, 2007). 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. Consequently, as a dis-

cipline that aspires to holistically understand what it means to be

human, it is necessary for biological anthropologists to seriously

engage or at the least be informed about the intersections of race and

biology.

6 | CONCLUDING REMARKS

The most recent release of the AAPA's statement on race (AAPA

Committee on Diversity, 2019) illustrates that there is an ongoing

effort within our discipline that reflects evolving ideas and approaches

to studying human difference. While the discipline has changed dra-

matically within the last 60 years with movements away from typolog-

ical to population-based approaches to human diversity, newer

methodologies are increasingly relying on holistic perspectives that

incorporate theories of embodiment and experience to make sense of

the nature and impact of race. Additionally, the changing notions of

race and representation within our discipline was demonstrated at the

very well attended 2017 AAPA symposium entitled, “Beyond Visibil-

ity: How Academic Diversity is Transforming Scientific Knowledge”

and in the follow-up discussion of the symposium held at the follow-

ing year's annual AAPA meeting. In the 2017 symposium, scholars

from diverse gender identities, economic, and racial backgrounds

reflected on how incorporation of a wider variety of perspectives and

experiences enhances anthropological knowledge. In the 2018 follow-

up discussion, the initial symposium was characterized as, “…a space

to explore connections between academic representation, research

ethics, methodological practices, and knowledge production in biologi-

cal anthropology” (Smith, Bolnick, & Fuentes, 2018). For many anthro-

pologists, this symposium and the subsequently published essays

(Bolnick, Smith, & Fuentes, 2019), marked a critical moment in our dis-

cipline where the internal momentum among the association's mem-

bership to broaden the representativeness and perspectives of

scholars was vibrant and poised to enable change. Precisely this type

of momentum is important to sustain in response to the reemergence

of essentialist ideas regarding race. These sort of changes in how bio-

logical anthropologists understand race, embodiment, and by exten-

sion racism, begins to align with what Leith Mullings called for in her

highly cited (Mullings, 2005b) article in which she makes the point

that anthropological research and theory need to be responsive to

changing expressions of race and racism.

Understanding the nature, scope, and meaning of human differ-

ence is central to biological anthropology. As scholars that are con-

cerned with how social behaviors shape biology and how biology

shapes social behaviors, biological anthropologists are uniquely posi-

tioned to comment on the contexts that shape human experience. As

discussed throughout this article, while there has been substantial

progress in reconceptualizing notions of human genetic diversity

beyond biology, essentialist ideas regarding the nature and utility of

race, remain problematic among scholars, the lay public, and other

stakeholders. These issues are especially notable in the ways in which

race is referenced within GWAS studies in biomedicine, in the market-

ing of DTC ancestry tests, as well as in the use of genetic ancestry

information in legal contexts. The persistence of essentialist ideas

about human genetic variation reaffirms the need of professional

anthropologists and other scientists to continue to dispel falsehoods

about the nature of human biological variation. Continuing in the tra-

dition of our anthropological fore bearers like Firmin, Cobb, and Bond

Day, contemporary biological anthropologists must rely on their

expertise to shape discussions about race in both scholarly and public

forums. While, admittedly, there may be no prescribed, standardized,

or preferred ways to influence discourses on race, the recent events

at the AAPA meetings as well as newer research articles that chal-

lenge essentialist thinking are prime examples of how biological

anthropologists have and can work to address open questions of race.

Additionally, diversifying citation practices and giving equal priority

to questions of and related to race that is offered to other types of

anthropological research (e.g., through funding1 and exposure at

professional meetings) can also be important elements in shaping

modern ideas and research about race. As discussed throughout

this article, genetic data provides more evidence on the nature of

human biological diversity. How anthropologists and other scien-

tists incorporate this information into constructivist or experiential

discourses of race, will be critical in ensuring that modern under-

standings of human variation uphold the anti-racist tradition of

contemporary anthropology.

ACKNOWLEDGMENTS

I thank my colleagues at Vanderbilt University and at Northeastern

University School of Law for meaningful feedback and conversation

BENN TORRES 81

while working on this article. Their insights and suggestions proved

invaluable to me. The author declares a competing interest in that she

is on the Scientific Advisory Board (SAB) for Fzero Genomics Limited,

a DTC company, and in this role has stock options.

DATA AVAILABILITY STATEMENT

Data sharing is not applicable to this article as no new data were cre-

ated or analyzed in this study.

ORCID

Jada Benn Torres https://orcid.org/0000-0001-9678-4038

ENDNOTE 1 A recently published study in Science Advances by Hoppe et al. (2019),

suggests that topic choice heavily influences funding success for NIH

R01 applicants. Topics that directly involve human subjects, such as

community and patient-centered research, as well as work on eight

named topics including keywords like “disparity” and “psychosocial,” tended to be less successful at being funded. The authors concluded that

because African American scientists tend to propose projects with less

favored topics, that topic choice was a major contributing factor to the

funding disparity between African American and European American

researchers.

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