Should Human Genetics Focus on Ancestry Rather Than Race?“Problematic” …
Posted on February 15, 2016
Michael Yudell, PhD, MPH Chair & Associate Professor Drexel University School of Public Health
Medical Research: What is the background for this study?
Dr. Yudell: We came together as a group of scholars from the natural sciences, social sciences, and humanities to address what we believe is a long-standing challenge: how to improve the study of human genetic diversity without recapitulating the controversial and problematic concept of race.
We believe that the cross-disciplinary focus of our work—an examination of the historical, biological, and sociological aspects of the race concept—can shed new light on the long-standing debate about the use of the race concept in genetics research. We believe modern genetics remains stuck in a paradox: that on the one hand race is a tool to elucidate human genetic diversity, and on the other hand race is believed three main concerns to be a poorly defined marker of that diversity and an imprecise proxy for the relationship between ancestry and genetics. …A lot of genome data has been collected since then.
Can the race concept in genetics elucidate the relationship between humans and their evolutionary history, between humans and their health? In the wake of the human genome project the answer seemed to be a pretty resounding “no.” In 2004, for example, Francis Collins, then head of the National Human Genome Research Institute and now Director of the National Institutes of Health called race a “flawed” and “weak” concept and argued that science needed to move beyond race. Yet, as our paper highlights, the use of race persist in genetics, despite voices like Collins, like Craig Venter—leaders in the field of genomics-who have called on the field to move beyond it. They, of course, were not the first to do, but we hope they are among the last. …
Medical Research: What are the main concerns about using race as a factor in medical research?Sure, but, as Damon Runyon said, that’s the way to bet, or to structure your checklist priorities when confronted with a mysteriously sick child. Here are the CDC’s bullet points on Sickle Cell Disease (SCD) and Sickle Cell Trait (SCT):
Dr. Yudell: We have three main concerns about using race as a factor in biomedical research.
1) First, phylogenetic and population genetic methods do not support the classification of humans into discrete races;
2) Racial assumptions are not good biological guideposts. This is true for two reasons: first, races are genetically heterogeneous and they lack clear-cut genetic boundaries. And, two, because of this, using race as a proxy to make clinical predictions is about probability. Of course medicine can be about best guesses. But are we serving patients well if medical decisions are made because a patient identifies him or herself as part of a certain racial group OR is identified by a healthcare practitioner as belonging to a specific race? What if, for example, the probability is that if you are white you are 90% likely to have a beneficial or at least non-harmful reaction to a particular drug? That sounds pretty good. But what if you are that 1 in 10 that is likely to have a harmful reaction. That doesn’t sound so good, and that is the problem with most race-based predictions. They are best guesses for an individual. We are much better off looking directly at an individual’s genes; and
3) We do not believe that a variable that is so mired in both historical and contemporary controversy has a place in modern genetics. Race has both scientific and social meanings that are impossible to tease apart, and we worry that using such a concept in modern genetics does not serve the field well. An example of this is the concern many had in the wake of Nicolas Wade’s book A Troublesome Inheritance, which made wrongheaded claims about the genetic basis of social differences between races. Wade’s book forced a large group of leading geneticists to publicly refute the idea that genetics (and their work) supported such ideas.
Medical Research: What should clinicians and patients take away from your report?
Dr. Yudell: It is time to find a better way to study human genetic diversity. The use of racial assumptions are problematic at best and harmful at worst as we seek to improve our understanding of the relationship between our genes and our health with the goal of determining the best course of medical treatments. Sickle-cell anemia’s identification as a Black or African disease is a good example of this. Sickle-cell is not, of course, an African-American or African disease, but a disease that runs in higher frequencies in a number of populations globally, including in African-American and African populations. But these are not racial differences. Sickle-cell is a disease that is an evolutionary adaptation to exposure to the disease malaria. You find the sickle cell trait in higher frequencies in regions of Africa because populations there, as they did in other parts of the world, adapted to resist malaria. Sickle-cell appears in other regions of the globe, in other human populations, including populations in the Mediterranean basin, on the Arabian Peninsula, and on the Indian subcontinent where these populations also adapted to resist malaria. So sickle-cell disease is not an African disease and thinking of it in this way can wrongfully associate a particular disease with a particular race and may lead us to ignore sickle-cell symptoms in patients who are not believed to be at risk for it.
The CDC doesn’t bother giving a fraction for SCD for non-Hispanic white births because it’s so rare. It could happen, but it’s very rare.
- SCD affects 90,000 to 100,000 Americans.
- SCD occurs among about 1 out of every 500 Black or African-American births.
- SCD occurs among about 1 out of every 36,000 Hispanic-American births.
- SCT occurs among about 1 in 12 Blacks or African Americans.
Medical Research: What recommendations do you have for future research as a result of this study?Or maybe people should be told that race is actually about ancestry? Visual clues are used to guess ancestry. Physical anthropologists got very good by the second half of the 20th Century at using phenotype to guess genotype, which is why the genome analyses of the 21st Century have done so little to rewrite our understanding of the racial distributions of humanity.
Dr. Yudell: We make two proposals in our paper. The first: we call upon journals who publish in areas of research related to human genetics to encourage the use of alternative variables to study human genetic diversity and to rationalize their use. Journals should require scientists publishing in their pages to clearly define how they are using such variables in order to allow scientists to understand and interpret data across studies and would help avoid confusing, inconsistent, and contradictory usage of such terms. This has been tried before, but only in piecemeal fashion. We also recognize that the use of terms changes nothing if the underlying racial thinking remains the same. But we believe that language matters and that the scientific language of race has a considerable influence on how the public understands human diversity.
We prefer concepts like ancestry instead of race in human studies and it is important to distinguish the two. Ancestry is a process-based concept that helps us understand the admixing events that lead to one’s existence. Ancestry is also a statement about an individual’s relationship to other individuals in their genealogical history, thus is a very personal understanding of one’s genomic heritage. Race, on the other hand, is a pattern-based concept that has led scientists and laypersons alike to draw conclusions about hierarchical organization of humans, connecting an individual to a larger preconceived geographically circumscribed or socially constructed group.
Second, we are calling upon the US National Academies of Sciences, Engineering, and Medicine to convene an interdisciplinary panel of experts to help the field improve the study of human genetic diversity. As an honest broker in science policy, the Academies can play a constructive role in bringing together natural scientists, social scientists, and scholars from the humanities to find ways to study human genetic diversity that does not recapitulate the confusion and potential harm that comes with using the race concept.Sorry, but racial categories used in American medical research follow racial categories used by the U.S. government. They are not some ancient pre-scientific infliction of White Privilege, they are categories currently under the control of the Obama Administration.
The Race, History, Evolution Notes blog points out this earlier contribution by Yudell:
A SHORT HISTORY OF THE RACE CONCEPTThat’s not true. Vince Sarich and Frank Miele wrote in 2004:
By Michael Yudell
At the dawn of the 21st century, the idea of race – the belief that the peoples of the world can be organized into biologically distinctive groups, each with their own physical, social, and intellectual characteristics – is understood by most natural and social scientists to be an unsound concept. … By the 1970s, many prominent biologists, including Richard Lewontin and Stephen Jay Gould, came to see the race concept as a deeply flawed way to organize human genetic diversity that is inseparable from the social prejudices about human difference that spawned the concept in the 18th century and have accompanied its meaning since.1 Historians and social scientists believe that race is socially constructed, meaning that the biological meaning of race has been constrained by the social context in which racial research has taken place.
On the other hand, because studying genetic differences can improve our understanding of human evolution, disease, and development, the relationship between genetics and human diversity remains an ongoing area of scientific inquiry. The challenge has been to develop a new scientific terminology and methodology that finds meaning in the study of human difference without recapitulating outmoded and racist notions often associated with the concept of race itself. Some scientists have developed novel ways to measure difference between various human populations, including using ancestry, ethnicity, and population as replacements or surrogates for race.
… Most scholars now accept the viewpoint that in the ancient world “no concept truly equivalent to that of ‘race’ can be detected in the thought of the Greeks, Romans, and early Christians.”5
“The art of the ancient civilizations of Egypt, Greece, Rome, India, and China, and the Islamic civilization from AD 700 to 1400 shows that these societies classified the various peoples they encountered into broad racial groups. They sorted them based upon the same set of characteristics—skin color, hair form, and head shape—allegedly constructed by Europeans when they invented ‘race’ to justify colonialism and white supremacy.”Yudell goes on:
Rooting human variation in blood or in kinship was a relatively new way to categorize humans. The idea gained strength towards the end of the Middle Ages as anti-Jewish feelings, which were rooted in an antagonism towards Jewish religious beliefs, began to evolve into anti-Semitism. These blood kinship beliefs rationalized anti-Jewish hatred instead as the hatred of a people. For example, Marranos, Spanish Jews who had been baptized, were considered a threat to Christendom by virtue of their ancestry because they could not prove purity of blood to the Inquisition.Uhhhhhmmmm … The notion that “Rooting human variation in blood or in kinship was a relatively new way to categorize humans … rooted in … anti-Semitism” is a pretty self-evidently self-defeating assertion, since the word “anti-Semitism” itself is rooted in the Book of Genesis’s descriptions of the three sons of Noah, including Shem, progenitor of the Semites:
Chapter 10The Old Testament is obsessed with this kind of stuff.
1 Now these are the generations of the sons of Noah, Shem, Ham, and Japheth: and unto them were sons born after the flood. …
31 These are the sons of Shem, after their families, after their tongues, in their lands, after their nations.
32 These are the families of the sons of Noah, after their generations, in their nations: and by these were the nations divided in the earth after the flood.
Yudell goes on:
At the core of this work, known as the American School of Anthropology, was the theory of polygeny, the belief that a hierarchy of human races had separate creations. Samuel Morton’s experiments on cranial capacity and intelligence sought to demonstrate this theory. Morton collected hundreds of skulls from around the globe, measured their volume, and concluded that the Caucasian and Mongolian races had the highest cranial capacity and thus the highest levels of intelligence, while Africans had the lowest cranial capacity and thus the lowest levels of intelligence.Gould didn’t try to replicate Morton’s findings. He just asserted that Morton had been biased. Recently, actual scientists did replicate Morton’s findings, and thus failed to replicate Gould’s famous fantasy.
More than a century after Morton’s death, the evolutionary biologist Stephen Jay Gould, using Morton’s same experimental material and methods, could not replicate the earlier findings. Gould concluded that Morton’s subjective ideas about race difference influenced his methods and conclusions, leading to the omission of contradictory data and to the conscious or unconscious stuffing or under-filling of certain skulls to match his pre-ordained conclusions.6 Indeed, the case of Samuel Morton illustrates how social conceptions of human difference shape the science of race.
… At a June 2000 Rose Garden ceremony, President Bill Clinton, flanked by genome sequencers Francis Collins and Craig Venter, announced the completion of a draft sequence of the human genome. Collins, head of the National Human Genome Research Institute, and Venter, then President of Celera Genomics, offered their genomic data to the world – enhancing our understanding of human biology and holding the promise of to helping public health and medical professionals prevent, treat, and cure disease. On that day Venter and Collins emphasized that their work confirmed that human genetic diversity cannot be captured by the concept of race and demonstrated that all humans have genome sequences that are 99.9% identical. At the White House celebration Venter said “the concept of race has no genetic or scientific basis.”9 A year later, Collins wrote: “those who wish to draw precise racial boundaries around certain groups will not be able to use science as a legitimate justification.”10 Yet, since the White House announcement, there has been an increase in claims that race is a biologically meaningful classification.That’s my understanding, too: today’s half-witted Race Does Not Exist conventional wisdom stems from the speeches by Clinton and the others in the Rose Garden in 2000.
Of course, since then, there has been a flood of genome data, which has largely upheld the pre-existing views of race attained by physical anthropologists before the new technology arrived, although offering new details and new complexities.
The upsurge of claims that race is a useful taxonomic concept for humans seems to be driven by several factors. First, genomic technology has enhanced our ability to examine the 0.1% of nucleic acids in the human genome that, on average, vary between individuals. Some scientists are relying on the race concept to make sense of the genetic variation in this small sliver of our genomes. Second, the history of the biological race concept suggests that race is deeply embedded in scientific thought and that racialized thinking shaped genetics in the 20th century.In other words, Bill Clinton doesn’t know anything about genetics and we should charitably ignore his 2000 Rose Garden speech instead of enshrining Clinton as the Wizard of Genes.