Humans and Contemporary Science: What we have learned from the 18th century, and what we need to learn now

The study of human population genomics and direct-to-consumer ancestry testing has had societal consequences since its inception. As the child of 18th and 19th century biological anthropology, population genomics has contributed to furthering harmful and problematic ideas and practices in history, such as eugenics. Additionally, although population genomics have also been used to unite humanity, it also has “otherized” specific groups of vulnerable and marginalized people. Just as the study of human variation was surrounded by the pursuit of knowledge politics in the 18th and 19th centuries, it is encompassed by knowledge politics today as well. The complex issues of race, class, gender, and religion also interplay with the quest of knowledge in human variation as well, and have resulted in different outcomes for different groups among the aforementioned categories. This portion of this paper aims to critique the impact of population genomics and direct-to-consumer genetics testing within society, and to provide awareness that the services provided by population genomics and direct-to-consumer testing are disparate across demographics.

While interactions with the pursuit of human population genomics and direct-to-consumer ancestry testing have had positive interactions with certain demographics, namely cisgender males of European descent and only recently some people of African American descent, the interaction other demographics have had with population genomics and direct-to-consumer genetic testing have been largely unpropitious. Due to the fact that direct-to-consumer ancestry testing in western societies is often used as a tool to help individuals find their sense of personhood, as ancestry testing companies and society often uphold it is a primary indicator of self, the way that direct-to-consumer ancestry tests and population genomic studies interact with people in society can have profound influence, positive for some and negative for others. As Bolnick et. al mention in their 2007 paper The Science and Business of Genetic Ancestry Testing, “Test-takers may reshape their personal identities, and they may suffer emotional distress if test results are unexpected or undesired (5). Test-takers may also change how they report their race or ethnicity on governmental forms, college or job applications, and medical questionnaires” (Bolnick et. al 2007). In a society driven by knowledge politics and scientific authority, such as the Western world, using science to validate or invalidate someone’s understanding of self can create conflicts not only among individuals, but also in how groups interact with one another. Scientists in the human genomics field have begun to overuse terms such as “diverge,” “isolate,” and “distinct” when describing different groups of humans, no different than they would when describing the relationship between humans and other species. As such, the terminology they use can have problematic effects on how different groups of people see each other, leading to people questioning whether they should see each other as different species. After all, the aforementioned terms carry quantitative weight, and if scientists do not blatantly assess whether or not they are speaking at a micro or macro level, their work can be misinterpreted by people with malicious and racist intent and ultimately lead to harmful movements against certain demographics of people that have been vulnerable to exploitation from human variation studies in the past, such as African-Americans and Native Americans.

Additionally, population genomics can lead to the social alienization of people who are of non-European descent. Nathan H. Lents, a scientist from the Saint Louis University, School of Medicine wrote a piece titled The Meaning and Meaningless of Genealogy in January 2018, in which he differentiates the true relevance of genes and genealogy from the understanding of self, and outlines how genealogy in the west, particularly in the United States, has an inflated and possibly unwarranted significance in defining personhood and can ultimately create conflict. In his piece, Lents expresses that “our experience is about culture, not genes” (Lents 2018). Lents summarizes how the over-emphasis of genealogy underestimates the significance of cultural history. Lents stresses that “If you found out that your great-grandfather was not actually a poor Belgian immigrant who died of influenza before his daughter was born, but a French aristocrat who seduced or even raped your great-grandmother, how would that change your self-identity? I sure hope it wouldn’t change it at all. The culture in which we are raised shapes us as much as our parents do” (Lents 2018). Spitting into a tube and reading a pie chart should not delineate one’s identity. Also, direct-to-consumer ancestry testing companies do have the social responsibility to ensure that their customers are clearly aware of the accuracy of the test, to emphasize the importance of social and cultural upbringing, and to make sure populations on their tests are defined accurately in accordance with how the populations see themselves rather than how the researchers view and define them. Lents also notes how “Many recent descendants of immigrants from Latin America, Asia, Africa, and the Middle East are also frequently left out of the fun of genealogy. Underdeveloped regions usually have no paper trails to be found, which furthers the self-perception that these immigrants are ‘other’ and not part of the cultural stock of their adopted homelands” (Lents 2018). While Lents points out that it “may be partly unavoidable, our recent obsession with genealogy could extend the marginalization of immigrants further into subsequent generations than it would have otherwise,” those of European descent have ancestral paper trails and pictures of ancestors dating back to the 1800s and 1700s, and because most consumers of direct-to-consumer ancestry testing are of European descent, those who are of European descent are more than likely to be matched to hundreds of cousins from all over the country and in Europe (Lent 2018). This excludes those of other ancestries from being part of the story that made America what it is today and from the story of humanity, further otherizing them and treating different “populations” as if they are different species.

Studies of population genomics and direct-to-consumer ancestry testing play a huge role in how we craft our modern understanding of “race,” whether those who research in the field choose to admit it or not. Kim Tallbear, author of Native American DNA, discusses how “not only did nineteenth century racial-science inform thinking about race, but also about popular ideas of heredity and hierarchy — the pervasive racial attitudes of Americans in the nineteenth century — informed the pursuit of scientific knowledge. Such attitudes, whether held by ‘hard-liners’ (polygenists) or ‘soft-liners’ (monogenists, the liberals of the day) look today like embarrassing racist ideas” (Tallbear 2013 — Page 34). Tallbear also explains that while society and the scientific view seemingly endorse the “race is a social construct and not a biological one” bandwagon, “some scientists continue to find biological meaning in race in the 21st century. They continue to look for and assert biological markers of race” (Tallbear 2013 — Page 37). Although most American scientists in contemporary times dissociate themselves from the concept of “race,” this does not mean that they haven’t eliminated the harmful racial categories from their vocabulary. Instead, as Tallbear mentions, they have simply begun to identify the races as “populations” instead, in order to sound more politically correct (Tallbear 2013 — Page 38). While population geneticists such as David Reich from Harvard University have revealed that “we have known for almost a half-century that for the great majority of human traits shaped by genetics, there is far greater variation among individuals than populations” and that “’race is fundamentally a social category — not a biological one — as anthropologists have shown,” he also proports that “It is important to face whatever science will reveal without prejudging the outcome and with the confidence that we can be mature enough to handle any findings. Arguing that no substantial differences among human populations are possible will only invite the racist misuse of genetics that we wish to avoid” (Reich 2018).

Assertions made by some geneticists, such as the antecedent statement by David Reich, can cause a lot of harm to ethnic minorities. While Reich acknowledges that race is socially constructed and not a concept with biological significance, he still contends that “meaningful” average genetic distances between different human populations are unable to be refuted. In his New York Times column How To Talk About ‘Race’ And Genetics, Reich even goes as far as proposing that “The genetic variations that influence behavior in one population will almost certainly have an effect on behavior in others populations, even if the ways those genetic variations manifest in each population may be very different. Given that all genetically determined traits differ somewhat among populations, we should expect that there will be differences in the average effects, including in traits like behavior” (Reich 2018). By saying this, he is attributing biological meaning to the very categories he acknowledged as socially constructed which, in opposition to his view, would cause some marginalized demographics harm. Not only is Reich aimlessly purporting his view on genes and behavior, but he makes the claim with no scientific evidence behind it.

All of this is not to say that scientists and population geneticists as a whole embody views like Reich’s. In fact, many in the field have a strong aversion to the claims made in his recently published book “Who We Are and How We Got Here,” and in his columns in the New York Times. A column titled How Not To Talk About Race and Genetics, published to Buzzfeed, was written and/or signed by 67 different scientists across both the social and biological sciences disciplines, in response to one written by Reich. In it, they point out how Reich’s statement that “it is simply no longer possible to ignore average genetic differences among ‘races’” is “seriously flawed” (Kahn et. al 2018). The authors stress that “Making claims about the existence of biological races won’t help answer questions about health, like how the health of racialized groups is harmed by racial discrimination — how it increases the risk of disease, the risk of exposure to environmental toxins, or the risk of inadequate and inappropriate health care” (Kahn et. al 2018). Many population geneticists and anthropologists are extremely mindful of the social consequences their work could have if it is very lazily laid out and easily accessible for misinterpretation and use by people with a malevolent intent. Additionally, many geneticists collaborate with their colleagues in the social sciences and humanities, rather than disputing and disregarding the work of others as “non-scientific.” As Kahn et. al note, “This doesn’t mean that genetic variation is unimportant; it is, but it does not follow racial lines,” meaning that “History has taught us the many ways that studies of human genetic variation can be misunderstood and misinterpreted: if sampling practices and historical contexts are not considered; if little attention is given to how genes, environments, and social conditions interact; and if we ignore the ways that sociocultural categories and practices shape the genetic patterns themselves” (Kahn et. al 2018). Additionally, in responses to Reich’s claims that we must brace ourselves for genetic evidence of behavioral and health differences across populations, the researchers note that “ignores the trajectory of modern genetics. For several decades billions of dollars have been spent trying to find such differences. The result has been a preponderance of negative findings despite intrepid efforts to collect DNA data on millions of individuals in the hope of finding even the tiniest signals of difference” (Kahn et. al 2018). What is being said, though, is that population geneticists should think critically about how they define their “populations,” make sure that their delineations of populations are not socially and historically inaccurate, as they are studying how variation fits into historically socially constructed categories, and should ensure that they do not reflect outdated racial concepts from the 18th and 19th centuries. Additionally, they must completely move away from defining populations in a “continental” sense and make clear how subjective human genetic variation actually is.

Knowledge politics are grossly ingrained into the study of population genetics. Scott Frickel from the Sociology department at Brown University describes knowledge politics as policies “often legitimated in public discourse through appeals to scientific expertise, privileging narrowly framed technical issues over broader issues relating to human values and societal well-being, a process that Jürgen Habermas has described as ‘scientization.’” (Frickel 2013). Due to the “Life Sciences” nature surrounding studies on human population genetics and direct-to-consumer ancestry tests, some researchers in the field place their research on a hierarchy above research in other fields such as archeology, linguistics, history, and sociology. While human population genomics can definitely provide some insight into the human past, they cannot be the deciding factor of what humanity’s past consisted of. Leading geneticist David Reich has made contemptuous claims in his book “Who We Are and How We Got Here” such as “human genome variation has surpassed the traditional toolkit of archeology — the study of artifacts left behind by past societies — in what can reveal in changes in human populations in the deep past” (Reich 2018 — Page xx). Additionally, Reich purports that ancient DNA “…has become a more definitive source of information about past population movements more than the traditional tools of archaeology and linguistics” (Reich 2018 — Page xvi). Such arrogant views ignore the fact that archeology and linguistics have laid the groundwork that population geneticists have based their studies on. Without the extensive findings of archeology and linguistics, human geneticists would not know where and how to look for genetic variation. After all, human genomic researchers seek to establish a genetic basis to ancient societies that archeologists and linguists have discovered.

The knowledge politics that deeply surround studies of human population genomics can and have had deleterious effects on people. They appear to have gained a foothold in healthcare, where they manifest in the decisions doctors and nurses make when treating patients of different demographics. A prime example reflecting racial disparities in health care is in diagnosis and treatment of sickle-cell disease. As the late Judy Stone, former American journalist mentioned, sickle-cell disease — largely treated as a “black” disease, has major problems with under-funding of research and treatment towards the disease (Stone 2015). Additionally, Stone displays how “one aspect that was striking was the overlap between states refusing the Medicaid expansion and the map of distribution of African-American populations and sickle cell” (Stone 2015). Although the aforementioned correlation could be more related to economic factors or other factors as opposed to solely being the result of racist political factors, there is indeed a remarkable correlation between a state’s rate of African-Americans suffering from sickle-cell disease and their decision to deny the Medicaid expansion (Stone 2015). It is also important to mention that sickle-cell disease is not only prominent in African-Americans. There is a prevalence of sickle-cell disease in the Iberian Peninsula, Southern Italy, Greece, Turkey, the Arabian Peninsula, and India as well. All the areas that have a higher than average occurrence of sickle-cell disease have one thing in common: they are regions ridden with Malaria. When an individual has one copy of the sickle-cell disease allele and their second copy of the gene is a wild-type allele, they are able to survive better in an environment with malaria than someone who has two sickle-cell allele copies or two wild-type allele copies is. Sickle-cell disease is not the only disease that reflects racial disparities in health car treatment. Skin cancer, commonly treated as a “white person” disease, is commonly undiagnosed in patients of color until their skin cancer reaches advanced, lethal stages. A study conducted by Dr. Procia T. Bradford, a dermatologist, has highlighted that “W hen skin cancer occurs in people of color, patients often present with an advanced stage, and thus, worse prognosis in comparison to Caucasian patients” (Bradford 2009). Additionally, the study reports that the 5 year survival rate for people with skin cancer is 22% lower in people of color than it is in white people (70% vs 92%) (Bradford 2009). This underdiagnosis of skin-cancer in patients of color is likely due to the stereotypes surrounding who gets skin cancer and who doesn’t, leading to the disparities. Bradford also stresses that “Health care providers must maintain a high index of suspicion when examining skin lesions in skin of color” and attributes the underdiagnosis to the fact that “Data have been limited for non-white populations, making accurate determination of incidence and mortality difficult” (Bradford 2009).

When geneticists such as Reich insist that their science supercedes the extensive findings unearthed by several other fields over the span of several decades, they fall into the trap of the knowledge politics that surround their field. Also, they overlook the many limitations of their own field, such as limited sampling of both modern and ancient human DNA and contamination of ancient DNA. For example, as Tallbear mentions that “an important 2004 paper by Stephen Zeguraand and colleagues explains that three major haplogroups, C, Q, and R account for ‘nearly 96% Native American Y-chromosomes’(based on a sample of only 588 Native Americans” (Tallbear 2013 — Page 42).

Additionally, whether geneticists admit it or not, they are significantly tied to the social sciences, and largely descend from them. Their entire field operates around trying to discover biological differences among the socially constructed categories of human ethnicities and “populations.” Since the social sciences intensively understand the history behind the formations of these socially constructed categories, their histories, and the impact they have had on people, it would be absurd to overlook the findings of the social sciences in studies of human genetic variation. Indeed, Reich himself seems ill informed about how race functions in society. In his New York Times column How To Talk About ‘Race’ And Genetics he makes the outlandish claim that “As a society, we are already committed to giving everyone a full opportunity for self-realization — regardless of the particular hand each person is dealt from the deck of life. Since we are already committed to this, accommodating any slight differences in the average genetic influences on traits that might eventually be found should only be a little extra work to handle” (Reich 2018). By saying this, Reich displays that he is completely naïve about ongoing systematic oppression against ethnic minorities, because society is most certainly not committed to giving everyone the full opportunity of self-realization. He is also far too trusting of individuals to not misuse human population genetics, despite being one of 139 geneticists to sign an open letter against Nicholas Wade’s 2014 book A Troublesome Inheritance: Gene, Race, and Human History, which endorsed a lot of racist ideas, such as claiming that different “races” have different capacities of intelligence. Reich has seen firsthand how his own work has been misused, yet chooses to remain ignorant to the problems that could surface out of poorly constructed human population genomic studies and not responding to racist remarks made by people who misinterpret information in human genetic variation.

Reich’s overlooking of the social problems presented by the way he and other geneticists have been conducting their studies is exactly the reason geneticists must collaborate with their colleagues from the humanities and social sciences when conducting their studies. Reich defends the idea that his work is not the issue, rather believing that society’s attitude is the problem towards his findings. This is evident when he references a reader’s comment and stated that “Unfortunately, science has always been misused. From slavery, to eugenics, to economic Darwinism, to anti-abortion politics, the latest scientific knowledge has been employed in the service of evil. The idea of forestalling such efforts is valiant but fruitless. Science must continue its pursuit of truth, and scientists, as always, must speak out when their discoveries are exploited for harmful purposes” (Reich 2018). However, Reich supporting this statement shows his lack of knowledge about the ugly history surrounding Darwinism — one that is often left out of our textbooks. Though often touted as a “liberal abolitionist,” Darwin promoted the racist idea that “’Negroes’ and ‘Australians’ (seen in the day as members of a broader “Negro group” classification) were intermediates between Caucasians and apes” (Tallbear 2013 — Page 34). Darwin’s work wasn’t entirely innocent in nature. As displayed, his work, too was easily able to be misused by 18th and 19th century racialists who promoted eugenics because his studies gave people with malicious intent a blatantly racist platform. If Darwin’s own work wasn’t riddled with subtle racism, it wouldn’t have been able to have been easily misused to justify racism. Likewise, modern day geneticists cannot make the same mistake as Darwin. Reich’s countenancing of beliefs that behavior and cognition should differ among different human populations will unequivocally repeat the precarious history of what Darwin’s claims gave rise to, especially given the knowledge politics culture of our current society that holds everything as truths if it comes out of a “scientists” mouth, even if it is backed with no evidence at all (such as Reich’s claims about behavior and intelligence).