Mixed Race Studies

Race Decoded: The Genomic Fight for Social Justice

Stanford University Press
April 2012
280 pages
Cloth ISBN: 9780804774079
Paper ISBN: 9780804774086
E-book: ISBN: 9780804782050

Catherine Bliss, Assistant Professor of Sociology
University of California, San Francisco

Winner of the 2014 Oliver Cromwell Cox Award, sponsored by the ASA Section on Racial and Ethnic Minorities.

In 2000, with the success of the Human Genome Project, scientists declared the death of race in biology and medicine. But within five years, many of these same scientists had reversed course and embarked upon a new hunt for the biological meaning of race. Drawing on personal interviews and life stories, Race Decoded takes us into the world of elite genome scientists—including Francis Collins, director of the NIH; Craig Venter, the first person to create a synthetic genome; and Spencer Wells, National Geographic Society explorer-in-residence, among others—to show how and why they are formulating new ways of thinking about race.

In this original exploration, Catherine Bliss reveals a paradigm shift, both at the level of science and society, from colorblindness to racial consciousness. Scientists have been fighting older understandings of race in biology while simultaneously promoting a new grand-scale program of minority inclusion. In selecting research topics or considering research design, scientists routinely draw upon personal experience of race to push the public to think about race as a biosocial entity, and even those of the most privileged racial and social backgrounds incorporate identity politics in the scientific process. Though individual scientists may view their positions differently—whether as a black civil rights activist or a white bench scientist—all stakeholders in the scientific debates are drawing on memories of racial discrimination to fashion a science-based activism to fight for social justice.

Table of Contents

• Acknowledgments
• Introduction
• 1. The New Science of Race
• 2. Making Science Racial
• 3. The Sociogenomic Paradigm
• 4. Making Sense of Race with Values
• 5. Everyday Race-Positive
• 6. Activism and Expertise
• 7. The Enduring Trouble with Race
• Notes
• Index

How Culture and Science Make Race “Genetic”: Motives and Strategies for Discrete Categorization of the Continuous and Heterogeneous

Literature and Medicine
Volume 26, Number 1 (Spring 2007)
pages 240–268
DOI: 10.1353/lm.2008.0000

Celeste Condit, Distinguished Research Professor
University of Georgia

Scientists, medical personnel, and others have recently re-asserted the equivalence of human genetic variation and social categories of “race”. This essay identifies strong cultural and scientific motives for creating, defending, and deploying that equivalence. However, the essay employs visual depictions of human genetic variation and critical analysis of scientific and lay vocabularies to show that human genetic variation has a complex structure that cannot be directly fit into a simple category set of race terms. The essay suggests that efforts to equate patterns of human genetic variation and social terms for “race” rely on the rhetorical strategies of casuistic stretching and the deployment of a mediating term through a two-step argumentative structure. The essay closes by discussing the difficulties involved in implementing social policies based on this procrustean category system, utilizing the case of the “race-based” heart disease drug Bi-Dil.

One of the most contentious issues in contemporary genetics is the status of the concept of “race.” Critics of the research program in human genomics regularly cite the historical and contemporary associations between racism and genetics as a reason to be suspicious or non-supportive of genetic research. These criticisms operate on varying underlying assumptions about the nature of science and its relationship to culture. The predominant account, however, holds that science is the handmaiden of the dominant forces in the culture. In this account, because genetic science is a tool of the dominant forces in society, which are structured in a racist fashion, genetic science is predetermined to support racism. Substantial research in science studies has complicated the account of the relationship between science and culture, but the topic of racism and genetics has only recently begun to receive similarly sophisticated attention. I wish to contribute to this on-going exploration by analyzing the processes by which and the motives for which race terms are fit to the patterns of human genetic variation by scientists and medical research personnel.

My essay presumes and shows that human genetic variation has a complex structure that cannot be directly fit into a simple category set of race terms. Nevertheless, the essay identifies strong cultural and scientific motives for creating, defending, and deploying such a set of terms to describe that variation. Given the tension between the nature of human genetic variation and the scientific vocabularies proposed to define it, the essay reveals two specific rhetorical strategies used by scientific proponents of such categorization: casuistic stretching and the deployment of a mediating term through a two-step argumentative structure.

The essay proceeds in five movements. The first briefly overviews the historical trajectory of the naming of race in the U.S. The second enumerates the diverse motive structures that drive the contemporary categorization of human genetic variation into “race” groups, focusing particularly on the work of Neil Risch and his colleagues. The next provides a conceptually- and visually-based depiction of the nature of human genetic variation that highlights its clinal and brecciated character.  The essay then offers an analysis of the rhetorical strategies by which these heterogeneous and continuous materials are organized into simple, discrete categories by the scientific proponents of a biological foundation for “race.” In the final movement, the essay discusses the difficulties involved in implementing social policies based on this procrustean category system. It examines the case of the “race-based” heart disease drug BiDil to suggest that the inherent slippages in the category system make proposed programs of race-based medicine unworkable, but that they will also mask the failures of such initiatives…

…This inherent variability suggests that programs in race-based medicine are doomed to failure, at least to the extent that they are presumed to be based on underlying genetics. Figures 1–3 remind us that genetic heterogeneity among people who have relatively recent African ancestry is greater than anywhere in the world. Although this heterogeneity may have been reduced in African Americans by geographically selective and forced migration, it is re-enhanced by admixture. The “Black” population in the U.S. is also continually diversifying, as recent migrants come from other parts of Africa or from the Carribbean, where different patterns of migration and admixture have existed. Consequently, it is not reasonable to expect that dark skinned people as a group will respond to a particular drug more uniformly than the broader population, based on their skin color alone. If BiDil really does work better for African Americans (in the narrow range of parts of the country where it has been systematically tested) its beneficial effects will more likely result from shared experience of social discrimination than from shared genes. But BiDil’s success will be used as evidence to support what everybody believes—or fears—that Black people are genetically different from White people, in ways that truly matter.

BiDil’s failures will also be masked by the ambiguities of language. Doctors will not know to which patients they should prescribe BiDil. How dark should your skin be before you are a candidate for this medicine? If you have brown skin, but self-identify as “African American,” do you get the drug? What if you are dark skinned, but self-identify as Caribbean? What if your grandfather was from Ireland but your other relatives were from Sierra Leone? What if you are a recent immigrant from Ethiopia? The genetic ambiguities are blackwashed with a simple label: “Black” (or is it “African American”?). The promoters of the idea that people can be grouped into genetically discrete piles called “races” will never have to face the fact that these clinical problems invalidate their views. Whether a drug does or does not work for an “African American” with an Irish grandparent will not be attributed to the fact that the labels don’t work. It will be dismissed as irrelevant on the grounds that no medication works all the time, even for a targeted group. Only if BiDil proves to have a relatively high rate of fatal or serious side effects will it face real scrutiny. Only then will the spectre of the Tuskegee Syphilis study return. Even its return, however, will probably further reify “Black” against “White” rather than call into question the underlying assumptions that human beings can be placed into discrete genetic categories and treated based on those categories instead of the unique genetic constellation that each person represents….

Read the entire article here.

A Medical Humanities Perspective On Racial Borderlands

Literature, Arts and Medicine Blog
2008-06-30

Felice Aull, Ph.D., M.A., Associate Professor of Physiology and Neuroscience; Editor in Chief, Literature, Arts, and Medicine Database
New York University School of Medicine

I have long been interested in the metaphor of borderlands as a tool for exploring areas of ambiguity in medicine and in society. Courses that I teach (to medical students) consider ambiguous boundaries between student and professional, patient and physician, personal life and professional life, disease and health, and the cultural confusion that derives from migration and dislocation. I address those issues using theory from the social sciences and humanities in addition to fiction, memoir, poetry, and art. One of the topics that we consider is the ambiguity inherent in concepts of race. This has become a topic of recent interest (and controversy) because race, medical research and practice, and health policy are being linked with the genomics revolution. And since all of these endeavors take place in a sociopolitical context, recent events and discussions in the national political scene cannot help but play a role in our thinking about these topics. With this as background, I offer some thoughts triggered by a recent confluence of events.

The events

1. The presumptive nomination of Barack Obama as the Democratic Party’s choice for president.
2. The March, 2008, announcement that the National Institutes of Health established the Intramural Center for Genomics and Health Disparities, whose priority is to “understand how we can use the tools of genomics to address some of the issues we see with health disparities.”
3. Publication in the journal, Literature and Medicine, of “How Culture and Science Make Race ‘Genetic’: Motives and Strategies for Discrete Categorization of the Continuous and Heterogeneous,” by Celeste Condit. (26/1, Spring 2007 pp.240-268).

What is race?

Because Barack Obama was chosen to be the presidential candidate of a major political party, much has been made of the advances this country has made in racial tolerance and acceptance. Yet the fact that so much attention is being given to the racial component of the upcoming election emphasizes that race and color are still important in the national narrative. Obama personifies the contradictions and fallacies of the way we traditionally think about race. Born in Hawaii to a “white” American woman and a “black” man from the African country of Kenya, Obama is identified by virtually everyone as “African American” and black, although he is culturally atypical in that he is not descended from US slaves. He himself for the most part accepts that designation but he has consistently sought to move beyond race and has even been described as “post-racial.” In this country Obama is virtually forced to identify as African American because he is so identified by almost anyone who notices the color of his skin. Mr. Obama could not identify himself publicly as a white American or as “Caucasian,” even though his ancestry is as much white as it is black. He could not “pass” as white, simply because we tend to equate skin color and other physical characteristics with something that many call “race.”…

…Race-based medicine…

In my teaching I used the recent penetrating article by Celeste Condit in Literature and Medicine (event #3 above) to consider concepts of race and race-based medicine. Condit lays out the background for the current interest in race-based medicine and then proceeds systematically to demonstrate that the complexity of human genetic variation can not be fit into discrete categories like race or what is more often now discussed as continent of origin and gene clusters. She marshals the evidence that “there are no discrete boundaries among groups; instead there are slowly changing [gene] flows” (p. 253). And here is why this essay appeared in a journal of literature and medicine: Condit asserts that language “is always predisposed toward discreteness and binarity” and that we cannot wrap our minds around “any single word or visual map that could capture the 3 million different patterns of difference [in the 3 million base pairs in the human genome that vary]” (250). In addition, Condit argues that the notion that “human genetic variation partitions people into ‘races’ ” is a two-step [probably unconscious] rhetorical strategy that claims (1) gene clustering coincides with continental boundaries and (2) continents coincide with five historically designated racial categories(254). She shows how verbal manipulation is involved in mapping genetic clusters with five continental groupings and then enumerates the many ways that racial designations fluctuate and do not consistently correspond with the five groupings or with genetic clusters…

Read the entire essay here.

Taking racism into account does not mean refusing to collect and classify data in medical research according to race and ethnicity. On the contrary, those classifications provide important epidemiological information, as Risch et al. maintain, about the impact of social and environmental factors—including socio-economic inequities and cultural biases—on the health of individuals and groups. As Troy Duster argues, the way to ‘recognize, engage, and clarify the complexity of the interaction between any taxonomies of race and biological, neurophysiological, society, and health outcomes’ is to consider ‘how science studies deploy the concept of race’. The story of how biotechnology is revolutionizing medicine has put genomic research very much into public consciousness and has made genetic explanations of health disparities among individuals and especially groups the ‘default position’. Distinguishing between genomic and social and environmental factors in disease susceptibility and drug response is notoriously difficult, especially since, as Keita et al. note, ‘some environmental influences can be so subtle and occur so early in life as to be missed . . . ’. Yet, that distinction determines how researchers and practitioners understand and address the problem of health disparities. ‘Race’ and ‘ethnicity’ are very different as surrogates for genomics and for social and environmental factors in the assessment of health outcomes, which is why the larger stories in which the research is embedded are scientifically and medically as well as socially relevant.

Priscilla Wald, “Blood and stories: how genomics is rewriting race, medicine and human history,” Patterns of Prejudice, Volume 40, Numbers 4
/5 (2006): 316.

Ethnicity and Stroke: Beware of the Fallacies

Stroke
Volume 31, Issue 5 (May 2000)
pages 1013-1015
DOI: 10.1161/​01.STR.31.5.1013

Osvaldo Fustinoni, MD
Departments of Neurology
University of Buenos Aires, Buenos Aires, Argentina

José Biller, MD, Professor of Neurology and Neurological Surgery
Loyola University, Chicago

The role of ethnicity in stroke has been the subject of a considerable number of published reports. A quick Medline search detected 454 citations on “ethnicity and stroke,” 386 on “stroke in blacks,” 251 on “stroke in African Americans,” and 74 on “stroke in Hispanics,” of which only a few can be mentioned here. There even exists a journal dedicated to ethnicity and health.

However, the assumption that ethnicity is an isolated epidemiological variable delineating clinically distinct disease subgroups is controversial. The very concept of the word may be confounded with race (“black”), a common language or culture (“Hispanic”), a shared geographic origin (“Asian”), or a presumed common descent with diffuse boundaries (“Caucasian”). Ethnic categories are usually not defined in scientific reports, which results in dubious findings that are difficult to compare. The idea that a socially defined variable may reveal biological differences is fallacious, leading dangerously to biological determinism. For example, the genetic variation between races, traditionally classified on phenotype, is only slightly greater (10%) than that between nations (6%), and much larger within a local population (84%). Moreover, the genes responsible for skin color are few and are not associated with genetic markers for disease.

Ethnicity as a variable may be too greatly influenced by cultural attitude and therefore biased. In the past, this attitude led to the entire invention of diseases on the basis of race. At a time when the genetic inequality of races was considered obvious, the existence of these diseases was not questioned. In the present, ethnicity may be used euphemistically to avoid racist implications. A survey of 48 medical schools in the United States revealed that up to 91% of clerkship directors answered “yes” or “variable” after being queried whether students were taught by example to use the terms “black” or “white” when introducing case presentations. In another study, “black” patients were far more likely than “whites” to be racially identified at morning report. As recently as 1991, arterial hypertension has been related to skin color, even allowing for the fact that darker “blacks” may as a consequence be poorer and suffer more psychosocial stress.

Ethnic classification may vary from one community to another, as the perception of an ethnic group may be different across countries. As Caldwell and Popenoe put it, “what is black to someone from the United States may be white to a Brazilian or a Caribbean islander.” It may be added that the authors of the present editorial, both of European descent and born and raised in Spanish-speaking countries, would probably be classified as “Hispanic” in the US, although neither is of Spanish descent. Obviously, there is no such thing as a “Hispanic” ethnic group in Spain or Latin America.

Ethnicity is not a dichotomous variable, such as gender. How black is black? How is a person classified whose father is “white” and mother “black”? What about “mixed” grandparents? How does one classify a phenotypically “black” (by US standards) Spanish-speaking national from Central America? How are his children classified? Finally, how white is white? Do a Scot from Edinburgh and an Italian from Milan belong to the same ethnic group?…

…To avoid the shortcomings linked to classification, it has been proposed (and is now used in many reports) that patients entering population studies “self-classify” their ethnicity, assuming that “racial and ethnic categories are understood by the populations questioned.”

However, misinterpretation, confusion, and self-reclassification have been found in these cases. One striking example is that the category “South and Central American” was thought by respondents in one census to refer to natives of the south and central United States!…

…The consequences of flawed ethnicity research may lead to the assumption that ethnic minorities are an unhealthy social burden, that there are “ethnic” diseases which separate specific groups from the general population, that consequently they do not merit any further attention, and that “whites” are the “gold standard” of health. All this could do nothing but fuel racial prejudice…

Read the entire article in HTML or PDF format.

Against racial medicine

Patterns of Prejudice
Volume 40, Numbers 4
/5 (2006), Special Issue: Race and Contemporary Medicine
pages 481-493
DOI: 10.1080/00313220601020189

Joseph L. Graves Jr., Dean of University Studies; Professor of Biological Sciences
North Carolina Agricultural and Technical State University, Greensboro

Michael R. Rose, Director of the University of California Network for Experimental Research on Evolution; Professor of Biological Sciences
University of California, Irvine

Some scholars claim that recent studies of human genetic variation validate the existence of human biological races and falsify the idea that human races are socially constructed misconceptions. They assert that analyses of DNA polymorphisms unambiguously partition individuals into groups that are very similar to lay conceptions of race. Furthermore, they propose that this partitioning allows us to identify specific loci that can explain contemporary health disparities between the supposed human races. From this, it appears that racial medicine has risen again. In this essay Graves and Rose construct a case against racial medicine. Biological races in other species are strongly differentiated genetically. Because human populations do not have such strong genetic differentiation, they are not biological races. Nonetheless, the lack of population genetic knowledge among biomedical researchers has led to spuriously racialized human studies. But human populations are not genetically disjoint. Social dominance may lead to medical differences between socially constructed races. In order to resolve these issues, medicine should take both social environment and population genetics into account, instead of dubious ‘races’ that inappropriately conflate the two.

Racial medicine has risen again

Charles B. Davenport, one of the most respected scientists of the first decades of the twentieth century, argued that laziness was a hereditary trait. Davenport claimed in particular that laziness was a heredity character of Southern Whites. Later epidemiological studies determined that ‘white trash’ laziness was actually the result of heavy infections caused by the nematode necator americanus.  But, for Davenport and many other biologists of his time, the phenotypic differences displayed by particular populations were proof positive of the existence of human races. They believed that these races differed in readily observable features, such as skin colour and body proportions, and also in those they could not directly observe, such as intellect, morality, character, disease predisposition and resistance. In 1921, for example, Ernest Zimmerman published a report on differences in the manifestation of syphilis in Blacks and Whites. Such thinking helped to sanction the now infamous Tuskegee syphilis experiment.  Modern biologists recoil with horror when asked to revisit this sad episode in the history of science.

The rationale for the Tuskegee experiment was the underlying assumption that the Negro was genetically inferior to Whites. Thus, the perceived differences in incidence rates and progression of disease were thought to reside in characteristics intrinsic to the race, as opposed to the social conditions under which visibly darker-skinned persons of African descent lived in the United States. (It is significant that many ‘white Americans’ have African ancestors but ‘pass as white’, an anomaly to which we will return below.) Therefore, the Tuskegee experiment suffered not only from its moral shortcomings, but also from poor experimental design. The results of the experiment could not have distinguished between any genetically based difference in disease progression, since many environmental and social differences between African Americans and the Swedish cohorts with which they were to be compared were not properly controlled. With hindsight, the scientific problems of this experiment are obvious. What is not recognized is that modern discussions of race and medicine have not moved very far beyond the misconceptions that gave birth to the Tuskegee research programme...

…The identification of human races is not based on cogent biology

While humans have always recognized the existence of physical differences between groups, they haven’t always described those differences in racial terms. Racial theories of human differentiation were not a consistent theme of the ancient world, and really did not begin to flourish until after the European voyages of discovery in the fifteenth century. European naturalists of the eighteenth century were divided about the characterization of human differences. Almost all agreed that there was only one human species, yet they disagreed about whether there was a legitimate way to rank the various groups of humans hierarchically. For example, Carl Linneaus’s Systema Naturae (1735) classified human races partly on the basis of subjectively determined behavioural traits. It is not clear, however, what Linnaeus meant by the use of the term ‘race’. It seems that his classification scheme was describing subspecies of humans based on morphological features. According to it, European traits were clearly superior to others, and Africans were assigned the lowest rung in the hierarchy.

Such racist ideas were transplanted to America during colonial times, along with other biological absurdities. During American chattel slavery, the socially defined race of the offspring of slavemasters and slave women was ‘Negro’. Virginia law classified Eston Hemmings, who was 87.5 per cent European according to genetic ancestry, as ‘Negro’. Geneticists now suspect that Thomas Jefferson was his father, based on family genealogies and a genetic marker specific to the Jefferson family found in Eston’s descendants.

The one-drop rule (also called ‘hypo-descent’) in the United States differs from definitions of ‘blackness’ in Canada, Mexico, Britain and Brazil. Individuals, therefore, could move from one country to another and be classified differently according to the social custom. Indeed, in the United States, individuals have been born as a member of one race and died as a member of another. European ethnic groups, such as the Irish and Italians, did not become ‘white’ until the twentieth century. Such ‘races’ are clearly based on social conventions, as opposed to biological measures of genetic ancestry. Socially produced racial ideology from the very beginning influenced the collection and interpretation of data relating to human biological variation…

Read the entire article here.

Blood and stories: how genomics is rewriting race, medicine and human history

Patterns of Prejudice
Volume 40, Numbers 4
/5 (2006), Special Issue: Race and Contemporary Medicine
pages 303-333
DOI: 10.1080/00313220601020064

Priscilla Wald, Professor of English and Women’s Studies
Duke University

In 2003 Howard University announced its intention to create a databank of the DNA of African Americans, most of whom were patients in their medical centre. Proponents of the decision invoked the routine exclusion of African Americans from research that would give them access to the most up-to-date medical technologies and treatments. They argued that this databank would rectify such exclusions. Opponents argued that such a move tacitly affirmed the biological (genetic) basis of race that had long fuelled racism as well as that the potential costs were not worth the uncertain benefits. Howard University’s controversial decision emerges from research in genomic medicine that has added new urgency to the question of the relationship between science and racism. This relationship is the topic of Wald’s essay. Scientific disagreements over the relative usefulness of ‘race’ as a classification in genomic medical research have been obscured by charges of racism and political correctness. The question takes us to the assumptions of population genomics that inform the medical research, and Wald turns to the Human Genome Diversity Project, the new Genographics Project and the 2003 film Journey of Man to consider how racism typically inheres not in the intentions of researchers, but in the language, images and stories through which scientists, journalists and the public inevitably interpret information. Wald demonstrates the importance of understanding those stories as inseparable from scientific and medical research. Her central argument is that if we understand the power of the stories we can better understand the debates surrounding race and genomic medicine, which, in turn, can help us make better ethical and policy decisions and be useful in the practices of science and medicine.

To understand how genomic research can reproduce racism, it is necessary to understand how racism is articulated through that research as it is practised in the context of particular social formations. The articulation is produced through stories of race and genomic research, which take many forms as they make their way from the scientific community to the general public. Stories about the research reach public consciousness through such controversial decisions as the NHGC databank as well as through the discoveries and innovations emerging from the labs of pharmaceutical companies, universities and federal institutions. Accounts of genomic research offer exciting promises, ranging from new explanations (and treatments) for some of the most feared medical problems, from cancer to avian flu, to new ways of understanding (and managing) human behaviour. They also capture the public imagination with claims of new discoveries that offer insight into the mysteries of human origins and human history, and the genealogies of individuals as well as groups. The claims and promises fuse in the stories of genomic research broadcast in the mainstream media, and they in turn influence policy and funding decisions and help to shape future research. These stories are fundamental in the production of scientific and medical knowledge and, therefore, as I argue in what follows, attention to them needs to be incorporated into scientific and medical research.

…Genomic information is notoriously difficult to interpret even by researchers in the field. The frequency of alleles that mark genetic drift—the the rate of genetic changes resulting from mutations, or divergent alleles, in relatively inbred populations—tells where and when there was a divergence within a group. Those alleles are used to mark ancestry. But, as Michael J. Bamshad and Steve E. Olson note, ‘how groups are divided depends on which genes are examined; simplistically put, you might fit into one group based on your skin-color genes but another based on a different characteristic’.  The DNA that yields information about one’s ancestry—typically mitochondrial and Y-chromosome DNA—in fact tells only part of the story of genetic ancestry. The complexity of nuclear DNA does not yield sufficiently clear information to complete it. Moreover, as Jay Kaufman has pointed out, Risch et al. ’s study relies on the dismissal of ‘intermediate groups’, such as ‘Hispanic Americans’, whom Risch et al. acknowledge could ‘aggregate genetically with Caucasians, Native Americans, African Americans or form their own cluster’ and are therefore ‘not easily classified’, but the size of those groups attenuates their claims. They are too large to be dismissed as an exception. Intermixture is increasingly the rule…

…Pointing an accusatory finger at ‘political correctness’ not only deflects the scientific dispute, but also ignores the medical importance of the social consequences of racism, measured in health outcomes. Drawing a stark contrast between medical science and social concerns, a distinction that Risch et al. ’s article itself troubles, that accusation renders social concerns suspect except as they provide epidemiologically useful information. Neither Wade nor Risch et al . address what constitutes epidemiologically useful information. Risch et al. dismiss potential abuses of genomic information (such as those that fuel racism) as unscientific, arguing

that identifying genetic differences between races and ethnic groups, be they for random genetic markers, genes that lead to disease susceptibility or variation in drug response, is scientifically appropriate. What is not scientific is a value system attached to any such findings.

But this assertion presumes that science and medicine can be divorced from their social contexts and that information circulates in value-neutral terms. History does not support that presumption, and calling racism ‘not scientific’ does not address the value system or alleviate the problems—including health outcomes—associated with it…

…Taking racism into account does not mean refusing to collect and classify data in medical research according to race and ethnicity. On the contrary, those classifications provide important epidemiological information, as Risch et al. maintain, about the impact of social and environmental factors—including socio-economic inequities and cultural biases—on the health of individuals and groups. As Troy Duster argues, the way to ‘recognize, engage, and clarify the complexity of the interaction between any taxonomies of race and biological, neurophysiological, society, and health outcomes’ is to consider ‘how science studies deploy the concept of race’. The story of how biotechnology is revolutionizing medicine has put genomic research very much into public consciousness and has made genetic explanations of health disparities among individuals and especially groups the ‘default position’. Distinguishing between genomic and social and environmental factors in disease susceptibility and drug response is notoriously difficult, especially since, as Keita et al. note, ‘some environmental influences can be so subtle and occur so early in life as to be missed . . . ’. Yet, that distinction determines how researchers and practitioners understand and address the problem of health disparities. ‘Race’ and ‘ethnicity’ are very different as surrogates for genomics and for social and environmental factors in the assessment of health outcomes, which is why the larger stories in which the research is embedded are scientifically and medically as well as socially relevant…

Read the entire article here.

Finding a Match, and a Mission: Helping Blacks Survive Cancer

The New York Times
2012-05-11

Donald G. McNeil, Jr.

A month after his 2009 graduation from Yale Law School, Seun Adebiyi learned he had not one but two lethal blood cancers and began an odyssey to find a bone-marrow donor. Mr. Adebiyi, 28, who came to this country from Nigeria as a child, made appeals through Yale, on radio stations, in a YouTube video and even on a trip to Nigeria to ask law students to volunteer.

But finally, his doctor called, saying that a Nigerian woman in this country had donated her baby’s umbilical cord blood to a “cord-blood bank” and that the stem cells in it were a close enough match. After his own marrow — the source of his cancers — was wiped out, those cells were infused into him at Memorial Sloan Kettering Cancer Center. He has been in remission since.

Now he is trying to repay that debt, with an effort that experts say may save the lives of both Nigerians and black Americans. In February, he helped start Nigeria’s national bone-marrow registry, the first in Africa outside South Africa. He is now raising money to start a cord-blood bank there…

…But for African-Americans like Mr. Adebiyi, finding matches is particularly difficult. Blacks are less likely to register as donors; while blacks are 12.6 percent of the population, only 8 percent of registered donors are black.

“It’s lack of education about it, and mistrust of the medical system after scandals like Tuskegee,” said Shauna Melius, co-founder of Preserve Our Legacy, citing the Tuskegee, Ala., experiment in which government doctors recruited black farmers for research and let those with syphilis go untreated for decades. Her organization recruits donors at Harlem Hospital and through drives featuring black celebrities.

“Plus,” she added, “people are skeptical because you’re collecting DNA.”

Complicating the problem, blacks are more genetically diverse than whites. Anatomically modern Homo sapiens existed in Africa for 200,000 years before migrating north to Europe a little over 40,000 years ago, so all Europeans descend from the shallower end of the gene pool…

…It will particularly help those with more African genes. Most black Americans have some white ancestors and, on average, 35 percent European genes, but individuals vary widely…

Read the entire article here.

The fallacy of racial pharmacogenomics

Brazilian Journal of Medical and Biological Research
Volume 44, Number 4 (April 2011)
pages 268-275
DOI: 10.1590/S0100-879X2011007500031

S. D. J. Pena
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais
Belo Horizonte, MG, Brasil
GENE – Núcleo de Genética Médica, Belo Horizonte, MG, Brasil

Personalized pharmacogenomics aims to use individual genotypes to direct medical treatment. Unfortunately, the loci relevant for the pharmacokinetics and especially the pharmacodynamics of most drugs are still unknown. Moreover, we still do not understand the role that individual genotypes play in modulating the pathogenesis, the clinical course and the susceptibility to drugs of human diseases which, although appearing homogeneous on the surface, may vary from patient to patient. To try to deal with this situation, it has been proposed to use interpopulational variability as a reference for drug development and prescription, leading to the development of “race-targeted drugs”. Given the present limitations of genomic knowledge and of the tools needed to fully implement it today, some investigators have proposed to use racial criteria as a palliative measure until personalized pharmacogenomics is fully developed. This was the rationale for the FDA approval of BiDil for treatment of heart failure in African Americans. I will evaluate the efficacy and safety of racial pharmacogenomics here and conclude that it fails on both counts. Next I shall review the perspectives and the predicted rate of development of clinical genomic studies. The conclusion is that “next-generation” genomic sequencing is advancing at a tremendous rate and that true personalized pharmacogenomics, based on individual genotyping, should soon become a clinical reality.

Introduction

The American astrophysicist Neil deGrasse Tyson defined the “perimeter of ignorance” as the boundary where scientists face a choice: continue the quest for knowledge or invoke a deity or other supernatural forces. He used as an example no less than Isaac Newton himself, whose law of gravity enabled calculation of the force of attraction between any two objects. When computing the orbits of the planets around the sun, Newton feared that the mutual attraction between them would render the solar system unstable. He then concluded that God occasionally stepped in to make things right. A century later, the French astronomer Pierre-Simon de Laplace created a new mathematical tool called perturbation theory and used it to demonstrate that the solar system is in fact stable over periods of time much longer than Newton could predict. Laplacian science, therefore, no longer needed to postulate the interference of supernatural forces to explain astronomical facts.

Newton’s appeal to God, however unnecessary, may at first sight appear as a humble attitude of a great man. However, Tyson demonstrates that, on the contrary, it represented presumptuousness on his part: if his mathematics was not good enough to explain the phenomenon, then the problem was too complicated for any other human mind to figure out, then or anytime in the future. By “embracing ignorance” Newton’s attitude negatively infused a temporary stage of incomplete knowledge with a false permanency, running counter to the philosophy of open-mindedness and discovery that characterizes Science.

Pharmacogenetics and pharmacogenomics are likewise in a dilemma right at the edge of the perimeter of ignorance…

…To try to deal with this situation it has been proposed to use interpopulational variability as a reference for drug development and prescription, leading to the development of “race-targeted drugs”, as exemplified by the case of BiDil for treatment of heart failure in African Americans. The rationale for such strategy is that, since we still lack the pharmacogenomic knowledge necessary to implement true personalized treatment, we make do by using the race or the ethnic-geographic affiliation of a given patient as the replacement of the germane individual genotyping at critical loci.

Therein lies the fallacy of racial pharmacogenomics – being predicated on the idea that individual genotyping will be impossible to achieve in the near future, it “embraces ignorance”. Moreover, it often does so under false premises. For instance, in the FDA news release entitled “FDA Approves BiDil Heart Failure Drug for Black Patients” it is stated that this represents “a step toward the promise of personalized medicine”. But racial medicine is group medicine – most definitely it is not personalized medicine…

…I propose that, rather than thinking about populations, ethnicities or races, we should focus on the unique genome of a particular individual, which is structured as a mosaic of polymorphic haplotypes with diverse genealogical histories. This shifts the emphasis from populations to persons. We should strive to see each individual as having a singular genome and a unique life history, rather than try to impose on him/her characteristics of a group or population. Under this model, ideas such as that of human races or “race-targeted drugs” become meaningless and vanish like smoke.

The safety of racial pharmacogenomics

The adoption of racial pharmacogenomics by the FDA has serious implications that extend much beyond the restricted limits of the medical arena. Thus, it has to be evaluated not only scientifically, but also within a historical, sociological and philosophical context.

In the past, the belief that human races had substantial and clearly delimited biological differences contributed to justify discrimination and was used to oppress and foment injustices, even within the medical context. The concept of race is still loaded with ideology and carries within it relationships of power and domination. It is similar to a banana peel: empty, slippery and dangerous.

Thus, our final conclusion is that racial pharmaco-genomics fails on grounds of insufficient benefit/cost ratio: it has much to recommend against it and very little scientific justification in its favor.

To use racial pharmacogenomics as a palliative measure is tantamount to “embracing ignorance”. It erroneously confers persistence and credence to the idea that human races do exist. As pointed out by the sociologist Paul Gilroy, such persistence is toxic, contaminating and weakens all society…

Read the entire article here.

Why genes don’t count (for racial differences in health)

American Journal of Public Health
Volume 90, Number 11 (November 2000)
pages 1699-1702
DOI: 10.2105/AJPH.90.11.1699

Alan H. Goodman, Professor of Biological Anthropology
Hampshire College, Amherst, Massachusetts

There is a paradoxical relationship between “race” and genetics. Whereas genetic data were first used to prove the validity of race, since the early 1970s they have been used to illustrate the invalidity of biological races. Indeed, race does not account for human genetic variation, which is continuous, complexly structured, constantly changing, and predominantly within “races.” Despite the disproof of race-as-biology, genetic variation continues to be used to explain racial differences. Such explanations require the acceptance of 2 disproved assumptions: that genetic variation explains variation in disease and that genetic variation explains racial variation in disease. While the former is a form of geneticization, the notion that genes are the primary determinants of biology and behavior, the latter represents a form of racialization, an exaggeration of the salience of race. Using race as a proxy for genetic differences limits understandings of the complex interactions among political-economic processes, lived experiences, and human biologies. By moving beyond studies of racialized genetics, we can clarify the processes by which varied and interwoven forms of racialization and racism affect individuals “under the skin.”

…Professor Armelagos hinted at a powerful lesson: that scientific ideas can endure and be made to seem real if they have social and political–economic utility. An evolutionary framework that explained human variation had been established for more than a century, ever since the publication of Darwin’s Origin of Species. In the 1940s, Montagu used the “new evolutionary synthesis” to explain clearly why race was a biological myth. Yet the idea of race as biology persists today in science and society.

I was aware of the power of race as a worldview in 1973. But what I understood less was the idea’s ability to persist after it had been proven unscientific. If I had been asked in the 1970s whether race would survive as a way to think about human biological variation in 2000, I would have answered emphatically, “No!” I was naive to the durability of an economically useful idea.

Acceptance of the notion of race-as-biology declined in anthropology throughout the late 1970s and early 1980s. Yet, during the past decade, racialized notions of biology have made a comeback. This is especially true in human genetics, a field that, paradoxically, once drove the last nail into the coffin of race-as biology. In this commentary, I explain why race should not be used as a proxy for genetic or biological variation. I then explain and illustrate the unfounded assumptions that are needed for an acceptance that racial differences in disease are due to genetic differences among races…

…The Double Error Inherent in Genetic Explanations of Racial Differences

Two errors—2 leaps of illogic—are necessary for acceptance of the idea that racial differences in disease are due to genetic differences among races. The first leap is a form of geneticization, the belief that most biology and behavior are located “in the genes.”

Genes, of course, are often a part of the complex web of disease causality, but they are almost always a minor, unstable, and insufficient cause. The presence of Gm allotype, for example, might correlate to increased rates of diabetes in Native Americans, but the causal link is unknown. In other cases, the gene is not expressed without some environmental context, and it may interact with environments and other genes in nonadditive and unpredictable ways.

The second necessary leap of illogic is a form of scientific racialism, the belief that races are real and useful constructs. Importantly, this leap propels one from explaining disease variation as caused by genetic variation to explaining that racial differences in disease are caused by genetic variation among races.To accept this logic, one needs to also accept that genetic variation occurs along racial divides: that is, most variation occurs among races. However, we know from Lewontin’s work that this assumption is false for simple genetic systems. For a disease of complex etiology, genetics is an illogical explanation for racial differences.

Read the entire article here.