By Gabi G
To reflect on all the research I’ve been doing in previous blog posts, I decided to write a literature review. I hope you find it interesting! I definitely did while writing it.
Abstract
Race, as a social construct, plays a shockingly large role in the scientific field of genetics. This review analyzes several studies to reach a more comprehensive understanding of the origins of race’s influence in genetics, the modern implications of this relationship, and the validity of race as a scientific category in the context of genetics. Beginning as a means to classify people, built on a foundation of racism and belief of genetic superiority, race has evolved to have presence as a biological concept through the eugenics movement. While race’s scientific validity has largely been disproved, it continues to be used by scientists and geneticists in studies today due to stubborn belief in its legitimacy and a yearning to find a suitable method for human classification, especially in finding cures for genetic diseases. Aside from the trouble stemming from race’s lack of legitimacy in science, its social implications are also a liability towards any advancements found in science because of how race has historically marginalized people groups. Moreover, the monetization of genetics products including at-home ancestry test kits and molecular photofitting in forensics are a cause for concern due to their lack of scientific accuracy. The process for categorizing individuals based on race is not as accurate as companies market it to be, and this lack of transparency can lead to the misinterpretation of at-home test ancestry results as well as the criminalization of innocent suspects. Therefore, awareness about both the primary motives of these companies, as well as the lack of accuracy and social implications of interpreting racial results, is critical to understanding the broader effects of race in genetics and in society.
Introduction
Who are we? Throughout history, that question has plagued human consciousness. Our definition of who we are is also intertwined with who we are not – and it is because of this that a concept such as race may exist. When we began categorizing ourselves into groups of “us” and “them” we created a rift; a divide that history has proven much harder to overcome than it was to create. One of the most obvious ways to categorize people was by physical appearance and social norms; so, the idea of race was born. Initially, race began as a social construct – then scientists began to root it in different fields of biology. Most recently, it has been incorporated into the field of genetics, which many scientists acknowledge has the potential to have dire consequences. This literature review will demonstrate the problems with race in genetics, as well as race in science at large, due to its lack of scientific validity. Essentially, race is purely a social construct, and there is no scientific basis for race in genetics or any other scientific field. Therefore, it becomes dangerous to continue to include race as a scientific category – with applications in the workforce today – when its presence, however well-intentioned, has little to no foundation in science. First, this review will provide an overview of the history of race in science, from the eighteenth century to present day; then, it will describe the modern applications of race in genetics today as a field of study; last, it will demonstrate uses of race in the workforce through at-home ancestry test kits, forensics, and molecular photofitting.
A Brief History of Race and Genetics
Race and genetics have been intertwined throughout history in complex ways. Michael Yudell writes, “race, its scientific meaning seemingly drawn from the visual and genetic cues of human diversity, is an idea with a measurable past, identifiable present, and uncertain future. These changes are influenced by a range of variables including geography, politics, culture, science and economics” (Yudell 318). This description of race applies for all of human history; for as long as race has existed as a means to classify people, it has been under the influence of societal values and beliefs. Race is not a concrete concept, and thus has the flexibility to adapt as society evolves around it. Therefore, race in the context of biology and science has been restricted due to its social evolution. Some scientists have attempted to solve this dilemma, of race triggering an emotional reaction in people due to its history, by substituting race for words like ethnicity, ancestry, or population – with the hope that they might discover a method that will allow scientists to study human difference without triggering racist concepts and actions that are often associated with the concept of race (Yudell 331). However, other scientists firmly believe that examining human difference using race is disconnected from social prejudice, due to advanced technological methods (Yudell 332). The reasoning for these two drastically different perspectives must be traced back to its beginnings to be fully comprehended.
In America’s 1776 Declaration of Independence, Thomas Jefferson wrote “that all men are created equal” (Wills). Since then, America has wrestled with the obvious difference between Jefferson’s statement and the American experience. In 1787, Jefferson wrote Notes on the State of Virginia, a history of Virginia that complicated the public’s perception of his racial views. He wrote that there was a fixed difference between races, and theorized that African Americans were originally a distinct race. This seemingly self-contradictory view to the declaration can be explained, as Yudell puts it, by Jefferson’s perception of humanity. Yudell writes, if Jefferson thought “blacks were of a separate creation and set apart from the definition of ‘all men,’ then the equality set out in the Declaration did not apply to all” (Yudell 345). This would be a simple explanation for his writing – if black people were not included in Jefferson’s definition of men, then all European men were created equal. This thinking would require a severe degree of dehumanization of other races on Jefferson’s part, but remains in line with both of his writing pieces referenced. Even though Jefferson’s thinking was clearly racist, the term “race” has not yet appeared in history to describe humans. However, it is clear that the concept of racism was in practice, for example the dehumanization of people groups as European colonies began the slave trade and furthered global exploration in the Age of Discovery that took place from 1400-1500 (“The Age of Discovery”). It is of note that the term “race” had been used before in non-human contexts to describe domesticated animals. Race was first used to describe humans by Louis LeClerc, Comte de Buffon, a French naturalist, in 1749. Buffon theorized that phenotypic human difference was caused by living in different climates, and unfortunately was influenced by his belief in European superiority (Yudell 360). Buffon fundamentally believed that humanity in its “natural state” originated from Europeans, who he maintained produced, “the most handsome and beautiful men,” and constituted “the genuine color of mankind” (Yudell 375). He was the first scientist to introduce the concept of race in human classification to the scientific field.
Another figure of note in this time period was Carolus Linnaeus, a Swedish botanist and expert in natural history. Linnaeus created the “natural system,” that consisted of four main groups that he divided humanity into: Americanus, Asiaticus, Africanus, and Europeaeus. His system became the standard for the ordering of all species. In the late 1700s, a German scientist named Johann Blumenbach built upon Linnaeus’s work and created a grouping of five racial categories: Caucasian, Mongolian, Ethiopian, American, and Malay. Blumenbach promoted Caucasian as the ideal race, where Mongolian and Ethiopian were extremes on one side of the spectrum, and American and Malay were extremes on the other side (Yudell 379). A third scientist of significance is Samuel Morton, an American who promoted an explanation of white superiority to attempt to scientifically prove the reasoning for the cognitive and physical differences between races. Polygeny, which is the theory that each human race evolved from independent ancestors, was at the core of his work. Unfortunately, Morton’s ideas about race likely influenced the scientific accuracy of his work. In his study, he collected hundreds of skulls worldwide, measured their volume, and recorded that Mongolian and Caucasian skulls had the largest volume, which he reasoned corresponded to the highest level of cognitive ability, whereas Africans had the smallest cranial volume, corresponding to the lowest level of intelligence. A century after Morton passed away, an evolutionary biologist named Stephen Jay Gould replicated Morton’s study and could not draw the same conclusions – leading to the belief that Morton fabricated some of his data due to his preexisting beliefs about race (Yudell 391). While the validity of Morton’s work was disproved, the lasting damage it did to society could not be reversed as Morton’s theories adhered themselves to community beliefs.
The early 1900s brought about a new way of thinking about race. Instead of basing race off of physically measurable traits such as skin tone and skull volume, scientists turned to unobservable hereditary traits – genes. Dangerously, ideas about racial differences became ingrained in biology and genetics, paving the way for modern racist ideas. Mainly, this involved the idea that an individual’s social behavior and physical makeup can be equated to their genes originated from the eugenics movement — where eugenics is the study of how to arrange and control reproduction within the human race to select for favorable traits. Eugenics and genetics began intertwined, in a manner that eugenics founder Francis Galton put simply, when he promised “the most suitable races…a better chance of prevailing over the less suitable” (Yudell 409) through eugenics. There are two methods for achieving Galton’s ideal – positive eugenics and negative eugenics. Positive eugenics happens when specific groups of people are encouraged to reproduce with one another, and negative eugenics occurs when specific groups or individuals are denied the ability to reproduce with each other. One example of negative eugenics occurring in history was the United States’ eugenic sterilization laws, where over 30,000 people were sterilized to prevent passing down “undesirable” traits. These actions furthered racial hate in America. The notion that each human race had different mental capacities and physical abilities pushed geneticists to conclude that reproduction between races was biologically harmful, even though today this idea has been proven to be false (Yudell 429). Regretfully, the damage of this concept, like Morton’s ideology before it, again became ingrained in human society and redefined the concept of race in a sense that the combined powers of education, political change, and geographical change have not been able to change.
The main critic of this redefinition of race was W. E. B. Du Bois, one of the founders of the National Association for the Advancement of Colored People and editor of the NAACP magazine, The Crisis. He argued that race was not a scientific concept, but rather a social one and found measurements by race to be inaccurate. He stated, “the human species mingle[s] with each other [to a degree] that … it is impossible to draw a color line between black and other races” (Yudell 440). Du Bois’s thinking proved to be accurate, as a growing number of geneticists began to discover in the following decades.
In the 1930s, thinking about race began to move towards population genetics and evolutionary biology. Instead of firmly assigning genetic differences to racial groups as eugenics did, scientists began to understand racial groups as changing populations that could be classified by frequency of certain genes. Theodosious Dobzhansky was an evolutionary biologist with great influence over thinking about race between 1930 and 1970, and he held the opinion that race as a concept was simply a tool for understanding genetic diversity; he thought the idea of race made thinking about genetic diversity manageable. Yudell analyzes this Dobzhansky’s belief as a methodological decision, where the organization of human differences is real and can be categorized, but should not give way to thinking about an “evolutionary hierarchy” or other racist notions that had previously sprung from such categorization (Yudell 456). Further analysis of genetic variation in populations disproved eugenic ideas about race, rather supporting the idea of evolutionary synthesis – which is a combination of population genetics, experimental genetics, and natural history. The scientists who promoted evolutionary synthesis and Dobzhansky’s thinking were generally thought to be more liberal than the scientists before them.
In 1944, this new method of thinking about race was seen outside of scientific circles, in Swedish economist Gunnar Myrdal’s An American Dilemma: The Negro Problem and Modern Democracy. Myrdal’s conclusions about race were significantly affected by the recent changes in the idea of biological race. He recognized, “the great variability of traits among individuals in every population group…and the considerable amount of overlapping between all existing groups,” due to genetics, which led him to believe in “the fundamental unity and similarity of mankind…[which] is becoming scientifically established” (Yudell 485). This publication demonstrates growth in thinking about race, where the racist ideas promoted in the past begin to be socially disproved by certain individuals who acknowledge their scientific invalidity. This specific instance is of note because it was referenced in the 1954 US Supreme Court ruling Brown v. the Board of Education, where legalized segregation in public education was dissolved. In addition, the two “Statements on Race” of the United Nations Educational, Scientific, and Cultural Organization (UNESCO) written in 1950 and 1951 firmly put race in the category of population genetics and evolutionary biology. The first statement wrote that Homo sapiens as a species consisted of multiple populations, who differed between one another only in their frequency of certain genes, and that “for all practical social purposes ‘race’ is not so much a biological phenomenon as a social myth” (Yudell 485). Ashley Montagu, the chair of the first statement, advocated for the use of ‘ethnicity’ in place of ‘race,’ believing that the term ‘race’ was not suitable from a scientific standpoint. The second statement from UNESCO validated the idea of race based on population genetics as well.
Unfortunately, there were critics to this new thinking. Shockingly, one of them was R. A. Fisher, one of the founders of population genetics, who argued in 1951 that “available scientific knowledge provides a firm basis for believing that groups of mankind differ in their innate capacity for intellectual and emotional development.” Carlton Coon, President of the American Association of Physical Anthropologists agreed with Fisher’s thinking in 1961, where he wrote in his book The Origin of Races that Samuel Morton’s racist notions from the 1800s were accurate. He maintained that Homo sapiens had separately evolved from five distinct races of people. Progression was not unified, and the consequences of this lack of unification was demonstrated in America’s Civil Rights Movement happening at this time, where the intersection between biology and society was highlighted. Yudell notes that in the week UNESCO published its “Second Statement on Race,” 3,000 white people mobbed an African American US Army veteran, preventing him from moving into an apartment building in Cicero, Illinois that had been all-white.
The 1960s and 1970s were able to bring about a new level of understanding about race in biology. In 1972, a geneticist named Richard Lewontin who had been a student of Dobzhansky’s at Colombia in the 1950s used molecular genetic methods in gel electrophoresis that he had created to discover that the greatest amount of genetic variation, 85.4 percent, was “contained within” racial groups. For comparison, only 6.3 percent of “human variation” could be understood by racial categorization. Lewontin, a lead geneticist, then surmised that “[race contained] virtually no genetic…significance” (Yudell 516). In this way, it was found that categorization by race was ineffective because the greatest amount of genetic diversity could be found within the same racial group. In fact, racial categorization was unjustified because no significant degree of genetic variation could be found.
Despite these findings, scientists – all of whom, it is of note, were not geneticists – continued to maintain the belief that race was a biological concept. These scientists believed that those who argued against them had political motives, and lacked scientific validity. The public learned about this classification of race through this debate, and consequences ensued. An example is with Arthur Jensen, a professor at the University of California, Berkeley, and an educational psychologist who argued in 1969 that IQ was highly genetically heritable. His thinking was, as a result of his belief about IQ’s heritability, that rectification for racial differences in education was fruitless. Unfortunately, instances such as this demonstrated how race would be used for racist and nonscientific purposes.
Curiously, in the 1970s scientists began to ponder the roots of racism in biology. Sociobiology, “the systematic study of the biological basis of social behavior” (“Sociobiology”), created by American biologist E. O. Wilson asserted that racism, xenophobia, and ethnocentrism were biological characteristics. Wilson’s concept offered people with genetic reasoning on why, over centuries, they hated, feared, and attacked one another due to physical and social differences. Henry Louis Gates stated that sociobiology could be synonymous with “naturalized racism,” and offered scientific reasoning for racism’s evolution (Yudell 546).
Modern Applications and the Dangers of Race in Genetics
The twenty-first century has brought a new level of complexity to the relationship between race and genetics. As at-home Ancestry Testing kits have become available to the broader population, retailing for as low as ninety-nine dollars (23andMe), the effects of race on everyday life have increased. This is to be expected, as the social construct of race has been proven to affect decisions made throughout history, for example Hitler’s abuse of Jewish people during World War II (“Concentration Camp”), and the introduction of at-home ancestry test kits only emphasizes race’s impact. However, the trouble with this invention is that the marketing is inaccurate – companies marketing at-home ancestry test kits claim to have a much more accurate read on a customer’s ancestry than they do (Duster 2).
There are two distinctly different methods for determining ancestry – using gender specific methodology to test for biological ancestry and using Ancestry-Informative Markers (AIMs). Gender specific methodology involves testing using the Y-Chromosomes in male customers, and mitochondrial DNA (mtDNA) in female customers. The nature of this method of testing provides a definitive result along one line of ancestry. Individuals who are biologically male inherit their Y-Chromosomes from their biological fathers. This method of testing has the precision to then identify not only the individual’s father, but the individual’s father’s father, and possibly further. As long as the data is available, this method of ancestry mapping can trace back multiple generations, and it has practical applications. There has been an ongoing debate, for over a century, on whether Thomas Jefferson had children with one of his slaves, Sally Hemmings. Utilizing Y-Chromosome ancestry tracing settled this debate, as it directly linked Jefferson’s DNA to the descendants of Sally Hemmings (Duster 3).
The process for determining female ancestry is similar, aside from the fact that it utilizes mtDNA instead of the Y-Chromosome. When a mother gives birth, all of her children inherit her mitochondrial DNA; however, only her daughters will pass this DNA on (Duster 3). For reference, mtDNA fuels almost all of the cell’s actions – it is the “powerhouse” of the cell (Rogers). Utilizing this fact in females, it is possible to identify a woman’s mother, and her mother’s mother, given that the data is available. One practical application of this method was connecting granddaughters to grandmothers following Argentina’s “Dirty War” (1976-1983). When thousands of fathers and mothers disappeared or were murdered by the ruling group, their orphaned children were given to couples looking to adopt. Following the war, these orphans were able to reconnect with their grandmothers through mitochondrial DNA ancestry testing (Duster 4). There is significant power and benefit to the development of these DNA ancestry testing methods.
However, the primary consequence of this method of testing is that it is severely limited in scope; only two ancestors of a much larger gene pool can be identified. For example, in a female, when their biological grandmother is traced, only two of her four grandparents will be recognized in ancestry testing. This thinking follows for all generations – ancestry testing will only account for 2 of 64 great great great great grandparents, even though the 62 ancestors left out in that generation had equal contribution to the descendant’s genetic makeup as the 2 that were accounted for. National Geographic’s The Genographic Project used these two methods of testing, combined with a supplementation of 22 additional markers, while it was in operation to determine ancestry. They correctly informed participants of the limitations of their testing methods – however, participants who received results were still falsely led to conclude that if their results did not match the sample of a particular racial group, then they were not genetically linked to that group. This conclusion is false – and can have multiple severe consequences, the most direct being personal beliefs. Lorianne Rawson was a 42-year-old woman who believed herself to be a descendant of the Aleuts of Alaska, and submitted her DNA to The Genographic Project when it was in the northern part of the Arctic. Her results linked her instead to the Yup’ik Eskimos, who were the enemies of the Aleuts (Duster 4). Therefore, it is significant to note that while these results were presented to Rawson as definitive, they are in fact not so clearly defined and a lack of understanding of the limitations of the genetic testing process can lead to significant personal trauma when it may not be warranted.
The second distinct method of determining one’s ancestry is through using Ancestry-Informative Markers, or AIMs. AIMs are genetic markers found on the autosomes, non-gender specific chromosomes that are inherited from both parents. Instead of examining specifics within those markers, geneticists examine how frequently they occur. AIMs are used most frequently in the examination of continental populations, where markers determine the ancestral populations of continents. The inventor of AIMs claimed that the majority of the markers being examined were not population specific, but as the companies providing ancestry tests have it in their business interest to remain the sole owners of their techniques, their precise levels of threshold frequency are undisclosed (Duster 5).
One lab did allow a medical anthropologist to study its procedures, and the anthropologist found that racial ancestry percentages were determined by formulas that compared the frequency of 44 genetic markers, comparing reference populations of European, African, and Native American ancestry. Researchers hoped that this methodology would provide relative distinguishability, but it must be noted that reference groups consist of a small population of individuals. No continent-wide sampling had been done. Once researchers came up with values for each racial group, they generated a baseline for the statistics concept of an 100% genetically pure individual belonging to one racial group. When a customer then sends in their DNA and tests for one quarter of the genetic markers that correlate to being European, their results will report that they are 25% European (Duster 6). However, it must be remembered that this percentage is based on a reference group of individuals who cannot possibly hold all the genetic markers of a race, because the population is too small. The results that are given to customers stating that they are a certain percentage of a race is relative to the reference group that company’s researchers drew their baselines from.
One clear example of this dilemma can be seen in examining the genetic material of someone of African descent. Currently, over 700 million people live on the continent of Africa – and geneticists recognize Africa to be the most genetically diverse continent on the globe, most likely because humans have lived there longer than any other land mass. As a result, humans were able to accumulate more genetic variation in Africa. Accurately sampling 1% of the African population randomly would require an extremely expensive research program, with approximately seven million dollars (Duster 6). Instead, researchers have settled for the more monetarily sensitive solution, “opportunity samples,” where a few hundred or thousands samples are collected but only from more easily accessible populations. No researcher has collected samples from groups with linguistic, political, or cultural complexities that would make the sample collection process more difficult – including tribal groups such as the Zulu, Ibo, Hauser, Bantu, Lua, and Kikuyu tribes. The difficulty of obtaining DNA samples from these tribes is understandable, as are researchers’ choices to use opportunity samples instead, but then one consequence cannot be ignored: a recipient of this method of testing cannot be convinced that they are 50% African when the baseline used to make that claim is from a reference group of chance, and not targeted random sampling. This process of genetic testing relies on the statistically impossible concept of 100% genetic purity of a single race, which has never existed in human populations (Duster 7).
From a social standpoint, in June 2000’s Rose Garden Ceremony, President Bill Clinton and genome sequencers Francis Collins and Craig Venter declared the fulfillment of the first draft sequence of human DNA. In doing so, Collins and Venter demonstrated that human genetic diversity cannot be captured by the idea of race, because human genetic sequences are 99.9 percent identical. Venter then went on to state how the “concept of race has no genetic or scientific basis,” and Collins wrote how “those who wish to draw precise racial boundaries around certain groups will not be able to use science as a legitimate justification” (Yudell 559). However, the opposing side to this argument is still present, as it has been relentlessly throughout history. Neil Risch, a genetic epidemiologist, claimed that race is essential to determine “differences in treatment response or disease prevalence between racial/ethnic groups” and showed open support for the “search for candidate genes that contribute both to disease susceptibility and treatment response, both within and across racial/ethnic groups” (Yudell 560). Risch maintained the belief that classifying genetic differences in racial groups was “scientifically appropriate” (Yudell 561). Risch’s claim is not invalid; however, his thinking highlights the fear that the complexity of genetics and races will be equated to a concept much too simplistic because of preexisting notions about race. This fear is not unjustified, as race has made its way into the workforce, specifically in forensics.
Genetics at Work in Forensics
While it is important to note the power of having genetic testing capabilities, even though the scope of these capabilities has significant limitations in accuracy, the application of genetic testing to the workforce is a cause for concern. Specifically, the forensic application has the potential to have dramatic consequences, as innocent individuals wrongly identified through genetic markers may suffer consequences for crimes they did not commit. But, to better understand these dangers, first the background for genetic application in forensics must be described.
In 2004, physical anthropologist, population geneticist, and AIMs expert Mark Shriver was working on developing a project with a company, DNAPrint Genomics, to create a marketable product that could allow scientists to deduce an individual’s facial appearance based on their DNA ancestry results (Fullwiley 808). For reference, Shriver had previously collaborated on multiple other projects involving genetics, including a 2003 study at UC San Francisco with a team of Hispanic physicians that aimed to identify health disparities in Puerto Ricans and Mexicans with asthma using AIMs, as well as a project that used African-American, African, and Caribbean DNA samples to try and discover health disparities in cancer rates with biologist Rick Kittles (“Rick Kittles”). Shriver approached his latest project with the initial step to identify a person’s continental ancestry based on their AIMs, and then configure a digital rendering of their facial features using that data and a collection of photographs storing previous volunteer’s facial features. As of 2014, this process has since been renamed “molecular photofitting” (Fullwiley 809). Curiously, since 2004 Shriver has built on his methodology and begun to include genes involved in facial morphology, or the structure of an individual’s face. This would be a seemingly logical course of action, because the inclusion of genes that code for collagen are directly related to the face; however, because Shriver continues to depend upon ancestry markers that are not associated with facial morphology, the inclusion of collagen becomes questionable. Nonetheless, today Shriver has created a tool that generates an individual’s head structure, hair texture, skin color, and specific body build through usage of AIMs – and it is a tool marketed by Parabon SnapshotTM. Parabon SnapshotTM, perhaps overconfidently, had the statement “By mining and modeling the human genome for associations with forensically relevant phenotypes, we produce descriptive profiles of individuals from raw DNA samples” written on their website on 2014 at the time of Fullwiley’s publication. Their promise, that they have the ability to create a “digital mugshot” as Duana Fullwiley puts it, is dangerous as the usage of AIMs to categorize race has been proven to be shockingly inaccurate – largely due to Michael Yudell’s observation that race in biology essentially does not exist except as a social construct.
Shriver’s work on genetics did not end with his creation of digital mugshots – the National Institute of Justice then funded Shriver to study molecular photofitting in black populations. Shriver expressed that this was due to the genetic diversity of individuals with African ancestry, and when confronted with a reminder about racial profiling of black people in the United States, as well as false sentencing, he said, “If people don’t commit crimes, then they should not have to worry about being under police surveillance” (Fulwilley 811). Unfortunately, Shriver then demonstrated himself to be an individual with an extreme amount of power over the justice system in genetics, as well as one who lacked significant understanding of cultural experiences that differed from his own. His statement about police surveillance, and subsequently the American Judicial System, proves that. Shriver was not without good intentions; when questioned about his motive for his work, he said, “I just want to get the bad guys…hopefully this will actually make black people safer” (Fulwilley 811). Yet, a lack of understanding often overrides any good intentions set forth because the decision maker does not have the complete perspective on what the best course of action is.
The use of DNA samples from primarily African people in forensics, while it may be well-intentioned, inherently aids racial profiling and bias through the criminal justice system. Due to the inherent bias all humans develop over their lived experience, it becomes impossible to act as an impartial party in justice situations concerning race – everyone has a personal stake. Perhaps the issue is not to stop the advancement of molecular photofitting in forensics, but rather increase awareness about the risks of using primarily one racial group’s samples – because how can one be impartial, when the system was built off the back of a fundamentally judgemental concept: race?
Duana Fulwilley illustrates a real-life scenario of molecular photofitting in forensics in their article, “Can DNA ‘Witness’ Race?: Forensic Uses of an Imperfect Ancestry Testing Technology” (Fulwilley 2). On August 11, 2004, Derrick Todd Lee was convicted of murder and rape in south Louisiana. His conviction was the first of a series of murder and rape cases. His racial identity was African American.
Lee’s conviction was primarily based on his Y-Chromosome STR DNA profile, which matched the DNA samples found on the victims of a serial killing in the early 2000s that he was accused of. This serial killing involved the deaths of seven women in the Baton Rouge area of Louisiana.
However, Lee’s initial conviction was a separate process. First, a DNA sample was taken from him and went through a genetic analysis process that placed him into one of four racial groups, grouped by continent. This analysis made Lee the first person in the United States to be made a suspect in a crime by a DNA test that racially profiled his DNA. The technology that categorized Lee’s DNA was called “DNAWitness” – and this name was no accident. DNA Print Genomics Inc. – the company that created DNAWitness – wanted to promote the idea that technology now contained the power of an ‘expert witness’ through the suspect’s DNA. DNAWitness essentially compares the sample collected with AIMs, a set of genetic markers. Using AIMs conveys that the inventors of DNAWitness believed the DNA sample collected from the suspect would contain variations in allele markers that would enable them to be categorized in one of four categories: African, Asian, European, and Native American. In Lee’s case, he was classified as 85% sub-Saharan African and 15% Native American. Originally, Louisiana law enforcement had been searching for a Caucasian male – and Lee being a suspect, law enforcement concluded that they may be incorrect in that search. DNAWitness instead generated results for a ‘lighter-skinned black man,’ which it found through a series of probability tests for ancestry percentages from Lee’s DNA (Fulwilley 2).
DNAWitness has the potential to be a powerful tool, but Duana Fulwilley argues that it does not meet legal and scientific standards for trial admissibility, as well as ignores specific legal logic on using racial categories for deciphering DNA. DNAWitness has a shockingly large margin of error, and while it can offer tremendous help in the profiles it generates, the probability those profiles are inaccurate is disturbing, to say the least. Furthermore, excluding the science, interpreting results from DNAWitness are impossible without some level of objectivity and bias, which makes the justice system vulnerable to false readings of phenotype. The extent DNAWitness may accurately claim, according to Fulwilley, is the prediction of skin color, as many AIMs are skin and hair coloring alleles.
It has been stated that DNAWitness is lacking in accuracy – but an explanation for this lack must first be offered. DNAWitness is designed to only account for variations in allele frequencies of single nucleotide polymorphisms – otherwise known as coding DNA. The creators of DNAWitness interpret certain frequencies of these alleles as one of their four racial categories – however, these allele frequencies are also present in other world populations outside of those four groups (Asian, European, Native American, and African) due to factors such as genetic convergence, genetic drift, or evolution. Genetic convergence refers to similar genetic changes in separate populations, due to mutations that are coincidentally identical (Stern). Genetic drift refers to random variations in allele frequencies between generations (“Genetic Drift”). Failing to acknowledge these factors in DNAWitness makes it so that researchers must rely on direct ancestry/gene flow as the sole reason for shared allele frequencies among their racial categories. As a result, the legal community should hesitate before placing their complete trust in these tests, as there is no regulatory standard for these tests.
Even though there was no official standard for molecular photofitting when Fulwilley wrote her article in 2014, there was a set of accepted legal standards in science and technology. Notes to 702, Federal Rules of Evidence writes as such:
- ‘Whether the expert’s technique or theory can be challenged in some objective sense, or whether it is instead simply a subjective, conclusory approach that cannot be reasonably assessed for reliability;
- Whether the technique or theory has been subject to peer review and publication;
- The known potential rate of error of the technique or theory when applied;
- The existence and maintenance of standards and controls; and
- Whether the technique or theory has been generally accepted in the scientific community’ (Fulwilley 3)
At the time of this publication, DNAWitness failed four out of these five basic items. While these Federal Rules were curated in terms of scientific evidence in law, not specifically referring to or accounting for DNA testing, they remain true for all scientific evidence. As such, Fulwilley found them a reasonable standard. On December 1, 2000 amendments to these rules caused the statement, “an attack on the procedure used to test DNA for evidentiary purposes can be an effective challenge to the weight of any DNA evidence admitted” to be highlighted (Fulwilley 4). Alternatively, when genetic results from DNA testing technology such as DNAWitness is presented in a manner that makes it seem without fault, innocent suspects may suffer – because the technology is not as exact as it claims to be.
Today, many varieties of genetic technology provide aid to courts of law. None were approved without extensive discussion, research, and debate about their accuracy between scientists and law enforcement. However, the margin for error remains large, so the ultimatum that a suspect belongs to a certain racial group is misleading. As Fulwilley writes, “DNAWitness may offer precise mathematical ancestry percentages, but the accuracy of that precision remains debatable.” Tools such as DNAWitness contain great potential, but the risk of their inaccuracy makes them possibly a larger liability than benefit.
Conclusion
Race has little to no benefit in science. As a social construct, it becomes impossible for scientists to remain impartial when reviewing results concerning race; therefore, race presents itself as a liability to scientific advancement rather than an asset. However, many geneticists continue to maintain that race has scientific validity, and in doing so, race and genetics, a social construct and a scientific study, remain hopelessly intertwined. We may only hope that scientists reviewing results concerning race will educate themselves about the dangers of this social construct, because although their actions may be well intentioned as they work to identify possibly race-specific medical conditions, they will also be under the influence of a social construct they will not be able to remain impartial towards. The benefit to many scientific advancements made using race is large – for example, genetics in forensics where human DNA was used to generate a rendition of a suspect’s facial features. However, one must question the social implications of these studies, for example using primarily African DNA when constructing DNAWitness on the basis that African DNA contains the highest amount of genetic variation. The scientific basis for that action is true; however, so is the historical marginalization and racism against people of African ancestry in the United States. Scientists must be mindful of social norms and constructs when they are conducting studies involving race.
Having genetic testing on the basis of race is not inherently bad. However, as Troy Duster observes, legal guidelines for company transparency are critical for consumers’ understanding of their purchase. Many consumers who purchase at-home ancestry test-kits are not educated about the company’s testing process, and are falsely led to believe that their ancestry test results are fully accurate – when in fact, the complexities surrounding racial categorization are much greater. Making this information easily accessible to consumers is the marketing company’s responsibility to avoid misinterpretation of ancestry test results. The reasoning behind this lack of transparency is easy to pinpoint: the monetization of ancestry test kits. Ancestry test companies’ primary concern is making a profit, and in doing so, they must employ effective marketing strategies that may lead to the omission of certain information so they may sell the maximum number of kits. Moreover, it would require significant funding for the government to regulate genetic testing – so, while federal regulation, legal standards, and transparent marketing would be a significant step, if not an effective solution, towards the issue of interpreting at-home genetic testing results, in practice, it may not be the most practical. This thinking applies to the forensics field as well, where transparency in results generated by DNAWitness and other such technologies would be critical to both law enforcement and lawyers in court rulings and determining suspects.
Money plays a disturbingly large role in the validity of genetics. If it were not so, much more transparency could be achieved and it is likely that more social growth would ensue as the public understood that race is not a biological concept. But now, both race and genetics are forced to fall prey to monetization. If the steps outlined above, suggested by Troy Duster, could be executed then there is much potential for scientific and social benefit. But the reality is that in this current global economy, it is unlikely that those steps are realistic. So the actionable steps to take are to educate ourselves, which is in our power, and then take that education and use it to educate others. Perhaps then, with enough people educated, genetic testing companies and the federal government may be motivated to change their current operational strategies.
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