How Not To Talk About Race And Genetics

Posted in Articles, Health/Medicine/Genetics, Letters, Media Archive on 2018-03-31 02:37Z by Steven

How Not To Talk About Race And Genetics

BuzzFeed
2018-03-30


Micah Baldwin / Via Flickr: micahb37

Race has long been a potent way of defining differences between human beings. But science and the categories it constructs do not operate in a political vacuum.

This open letter was produced by a group of 68 scientists and researchers. The full list of signatories can be found below.

In his newly published book Who We Are and How We Got Here, geneticist David Reich engages with the complex and often fraught intersections of genetics with our understandings of human differences — most prominently, race.

He admirably challenges misrepresentations about race and genetics made by the likes of former New York Times science writer Nicholas Wade and Nobel Laureate James Watson. As an eminent scientist, Reich clearly has experience with the genetics side of this relationship. But his skillfulness with ancient and contemporary DNA should not be confused with a mastery of the cultural, political, and biological meanings of human groups.

As a group of 68 scholars from disciplines ranging across the natural sciences, medical and population health sciences, social sciences, law, and humanities, we would like to make it clear that Reich’s understanding of “race” — most recently in a Times column warning that “it is simply no longer possible to ignore average genetic differences among ‘races’” — is seriously flawed…

Read the entire letter here.

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The Contribution of Genomic Research to Explaining Racial Disparities in Cardiovascular Disease: A Systematic Review

Posted in Articles, Health/Medicine/Genetics, Media Archive on 2015-03-18 01:31Z by Steven

The Contribution of Genomic Research to Explaining Racial Disparities in Cardiovascular Disease: A Systematic Review

American Journal of Epidemiology
First Published online: 2015-03-01
DOI: 10.1093/aje/kwu319

Jay S. Kaufman, Professor
Department of Epidemiology, Biostatistics, and Occupational Health
McGill University, Montreal, Quebec, Canada

Lena Dolman
McGill University, Montreal, Quebec, Canada

Dinela Rushani
McGill University, Montreal, Quebec, Canada

Richard S. Cooper, Anthony B. Traub Professor of Community and Family Medicine
Stritch School of Medicine
Loyola University, Chicago, Illinois

After nearly a decade of genome-wide association studies, no assessment has yet been made of their contribution toward an explanation of the most prominent racial health disparities observed at the population level. We examined populations of African and European ancestry and focused on cardiovascular diseases, which are collectively the largest contributor to the racial mortality gap. We conducted a systematic search for review articles and meta-analyses published in 2007–2013 in which genetic data from both populations were available. We identified 68 articles relevant to this question; however, few reported significant associations in both racial groups, with just 3 variants meeting study-specific significance criteria. For most outcomes, there were too few estimates for quantitative summarization, but when summarization was possible, racial group did not contribute to heterogeneity. Most associations reported from genome-wide searches were small, difficult to replicate, and in no consistent direction that favored one racial group or another. Although the substantial investment in this technology might have produced clinical advances, it has thus far made little or no contribution to our understanding of population-level racial health disparities in cardiovascular disease.

Read or purchase the article here.

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Race

Posted in Audio, Health/Medicine/Genetics, Media Archive on 2014-04-21 01:12Z by Steven

Race

Radiolab
Season 5, Episode 3, April 2014


Shea Walsh

This hour of Radiolab, a look at race.

When the human genome was first fully mapped in 2000, Bill Clinton, Craig Venter, and Francis Collins took the stage and pronounced that “The concept of race has no genetic or scientific basis.” Great words spoken with great intentions. But what do they really mean, and where do they leave us? Our genes are nearly all the same, but that hasn’t made race meaningless, or wiped out our evolving conversation about it.

Guests: Ali Abbas, Dr. Jay Cohn, Richard Cooper, Troy Duster, Tony Frudakis, Malcolm Gladwell, Nell Greenfieldboyce, Wayne Joseph and David Sherrin

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Race in Biological and Biomedical Research

Posted in Articles, Health/Medicine/Genetics, Media Archive on 2013-11-28 15:41Z by Steven

Race in Biological and Biomedical Research

Cold Spring Harbor Perspectives in Medicine
Volume 3, Issue 11 (November 2013)
10 pages
DOI: 10.1101/cshperspect.a008573

Richard S. Cooper, Anthony B. Traub Professor of Community and Family Medicine
Loyola University Medical School

The concept of race has had a significant influence on research in human biology since the early 19th century. But race was given its meaning and social impact in the political sphere and subsequently intervened in science as a foreign concept, not grounded in the dominant empiricism of modern biology. The uses of race in science were therefore often disruptive and controversial; at times, science had to be retrofitted to accommodate race, and science in turn was often used to explain and justify race. This relationship was unstable in large part because race was about a phenomenon that could not be observed directly, being based on claims about the structure and function of genomic DNA. Over time, this relationship has been characterized by distinct phases, evolving from the inference of genetic effects based on the observed phenotype to the measurement of base-pair variation in DNA. Despite this fundamental advance in methodology, liabilities imposed by the dual political-empirical origins of race persist. On the one hand, an optimistic prediction can be made that just as geology made it possible to overturn the myth of the recent creation of the earth and evolution told us where the living world came from, molecular genetics will end the use of race in biology. At the same time, because race is fundamentally a political and not a scientific idea, it is possible that only a political intervention will relieve us of the burden of race.

A Klee painting named Angelus Novus shows an angel looking as though he is about to move away from something he is fixedly contemplating. His eyes are staring, his mouth is open, his wings are spread. His face is turned toward the past. Where we perceive a chain of events, he sees one single catastrophe, which keeps piling wreckage upon wreckage and hurls it in front of his feet. The angel would like to stay, awaken the dead, and make whole what has been smashed. But a storm is blowing from Paradise; it has got caught in his wings with such violence that he cannot close them. The storm irresistibly propels him into the future to which his back is turned, while the pile of debris in front of him grows skyward. This storm is what we call progress.

—Walter Benjamin
Theses on the Philosophy of History

RACE AS THE UNWELCOME GUEST IN THE DISCIPLINES OF SCIENCE

We rarely appreciate the presence of history in our day-to-day experience. The quotidian is a mixture of the repetitive and the predictable, carried forward by habit and punctuated by random events that we regard as either good or bad fortune. But in a more reflective mood, we have to acknowledge the relentless force of history that holds us in its grasp and accept that it creates the possibilities we use to negotiate with the future. The imposition of racial categories on human populations has been one of the most enduring historical forces that sets limits on opportunity and thereby shapes our life trajectory. As a projection of the underlying power relationships onto individuals, racial categories are used to structure social inequality. These power relationships are manifested both in the belief system that rank orders intrinsic human qualities according to group membership and the social institutions that enforce this hierarchy by restricting access to wealth, education, and other social goods. This daily reality is central to the history of all modern societies.

The racial structuring of society also has pervasive influence on biological research and the patterns of health and disease. Enormous effort has been expended to describe human demographic history through reference to an ever-changing array of constructs and categories, all of which include a hierarchical arrangement—either explicit or implicit. In the United States, most prominently, public health has embraced racial/ethnic categories as fundamental structural elements. Clinical medicine has similarly evoked racial categories to explain causation and outcomes across the entire spectrum of diseases. At the same time, race has met some of the strongest challenges to its legitimacy in biology and biomedicine. All of biology is grounded in the theory of descent from a common ancestor. The belief in racial categories was one of the most powerful liabilities of pre-modern biology and lent credence to the established view of divine creation. Indeed, it has recently been argued that the challenge to race brought by the abolitionist movement was a key factor behind Darwin’s transformative insight that the biological world—on the evolutionary time scale—is a single indivisible whole (Desmond and Moore 2009). Biomedicine still grapples with the implications of that insight for our species, yet substantial progress—uneven, tentative, and ultimately disappointing—has been made. In the current era, genomic science has opened new vistas onto previously unobserved dimensions of biology, and that proportion of the concept of race that has been attributed to genetics can finally be subjected to empirical scrutiny. Integrating this new knowledge into practice and focusing the technology on socially productive work, as always, remains our most difficult challenge.

The narrative of race therefore wanders the border territory between what we call science and what we recognize as history and politics. In the pre-genomic era, there was no requirement—indeed, no opportunity—to validate the authority of race with molecular evidence; causal inferences were made on the basis of phenotype, in its broadest possible sense, from disease to accumulated material wealth to social graces. The primary purpose of the race concept was to serve as a shortcut, an organizing tool that allowed post-enlightenment Europe to explain—and thereby justify—how imperialism had reshaped the world. Consequently, for both the social and biological sciences, race felt like the rude cousin whose claim on our affection was based on obligation, not choice. In every historical period, an incremental struggle has been waged to overcome the disruption that this unwelcome intruder has caused within empirical scientific disciplines.

In its origins, race was a “label of convenience” that biologists used interchangeably with the construct of “varieties” as they tried to create taxonomic categories below the level of the species (Cooper 1984). Writers from across the intellectual spectrum of literature and politics also felt free to make use of the idea. Thus, Baudelaire spoke of the “race of Abel” and the “race of Cain” when describing the polarization of 19th-century French society, and Marx characterized the English working class as a “race of peculiar commodity owners” (Baudelaire 1857; Marx 1957) (“Hence the sum of the means of subsistence necessary for the production of labour-power must include the means necessary for the labourer’s substitutes, i.e., his children, in order that this race of peculiar commodity-owners may perpetuate its appearance in the market.” [p. 172]). Malleability continues to be an essential quality of race, although it is now primarily used as a label for the temporary and often random aggregation of population subgroups, usually tied in some rough way to the perceived continent of origin (Kaufman and Cooper 1996). In its contemporary sense, biological race has now come to signify the inherited qualities of a population group hidden inside the DNA molecule…

Read the entire article here.

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this evidence invites a re-evaluation of the relevance of racial/ethnic labels

Posted in Excerpts/Quotes, Health/Medicine/Genetics on 2013-03-23 20:15Z by Steven

In conclusion, based on a consecutive series of patients from an urban medical center in New York City we demonstrate that a spectrum of mixed ancestry is emerging in the largest US minority groups. While consistent with previous descriptive studies, when viewed from the clinical perspective this evidence invites a re-evaluation of the relevance of racial/ethnic labels. In combination with evidence of locus heterogeneity within and between populations, this picture of extensive gene flow lends credence to the argument that the transfer of historical population labels which reflect language and other social categories onto patient samples will in many cases be unwarranted.

Tayo BO, Teil M, Tong L, Qin H, Khitrov G, et al., “Genetic Background of Patients from a University Medical Center in Manhattan: Implications for Personalized Medicine,” PLoS ONE, Volume 6, Number 5 (2011-05-04): 8-10. http://dx.doi.org/10.1371/journal.pone.0019166.

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Genetic Background of Patients from a University Medical Center in Manhattan: Implications for Personalized Medicine

Posted in Articles, Health/Medicine/Genetics, Media Archive, United States on 2013-03-23 20:09Z by Steven

Genetic Background of Patients from a University Medical Center in Manhattan: Implications for Personalized Medicine

PLoS ONE: A peer-reviewed, open access journal
Volume 6, Number 5 (2011-05-04)
11 pages
DOI: 10.1371/journal.pone.0019166

Bamidele O. Tayo
Department of Preventive Medicine and Epidemiology
Loyola University Chicago
Stritch School of Medicine, Maywood, Illinois

Marie Teil
Charles R. Bronfman Institute for Personalized Medicine
Mount Sinai School of Medicine, New York, New York

Liping Tong
Department of Preventive Medicine and Epidemiology
Loyola University Chicago
Stritch School of Medicine, Maywood, Illinois

Huaizhen Qin
Department of Biostatistics and Epidemiology
Case Western University, Cleveland, Ohio

Gregory Khitrov
Charles R. Bronfman Institute for Personalized Medicine
Mount Sinai School of Medicine, New York, New York

Weijia Zhang
Charles R. Bronfman Institute for Personalized Medicine
Mount Sinai School of Medicine, New York, New York

Quinbin Song
Charles R. Bronfman Institute for Personalized Medicine
Mount Sinai School of Medicine, New York, New York

Omri Gottesman
Charles R. Bronfman Institute for Personalized Medicine
Mount Sinai School of Medicine, New York, New York

Xiaofeng Zhu
Department of Biostatistics and Epidemiology
Case Western University, Cleveland, Ohio

Alexandre C. Pereira
University of Sao Paulo Medical School, Sao Paulo, Brazil

Richard S. Cooper
Department of Preventive Medicine and Epidemiology
Loyola University Chicago
Stritch School of Medicine, Maywood, Illinois

Erwin P. Bottinger
Charles R. Bronfman Institute for Personalized Medicine
Mount Sinai School of Medicine, New York, New York

Background

The rapid progress currently being made in genomic science has created interest in potential clinical applications; however, formal translational research has been limited thus far. Studies of population genetics have demonstrated substantial variation in allele frequencies and haplotype structure at loci of medical relevance and the genetic background of patient cohorts may often be complex.

Methods and Findings

To describe the heterogeneity in an unselected clinical sample we used the Affymetrix 6.0 gene array chip to genotype self-identified European Americans (N = 326), African Americans (N = 324) and Hispanics (N = 327) from the medical practice of Mount Sinai Medical Center in Manhattan, NY. Additional data from US minority groups and Brazil were used for external comparison. Substantial variation in ancestral origin was observed for both African Americans and Hispanics; data from the latter group overlapped with both Mexican Americans and Brazilians in the external data sets. A pooled analysis of the African Americans and Hispanics from NY demonstrated a broad continuum of ancestral origin making classification by race/ethnicity uninformative. Selected loci harboring variants associated with medical traits and drug response confirmed substantial within- and between-group heterogeneity.

Conclusion

As a consequence of these complementary levels of heterogeneity group labels offered no guidance at the individual level. These findings demonstrate the complexity involved in clinical translation of the results from genome-wide association studies and suggest that in the genomic era conventional racial/ethnic labels are of little value.

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Book review: What’s the use of race? Modern governance and the biology of difference

Posted in Articles, Book/Video Reviews, Health/Medicine/Genetics, Media Archive, Politics/Public Policy on 2011-12-15 02:08Z by Steven

Book review: What’s the use of race? Modern governance and the biology of difference

BioNews
Number 634 (2011-11-21)

Dr. Rachael Panizzo

Decoding the human genome has revealed details of our evolution and patterns of migration across the world. The study of genetic diversity between ethnic groups can help explain the ways in which race influences our biology and susceptibility to disease. It promises to deliver a new era of personalised medicine, where an individual’s unique DNA profile is used to make predictions about their future health; where specialised drugs are tailored to individual patients, based in part on their genetic ancestry.

But what do we mean by ‘race’, exactly? Is race a relevant biological or medical category, and how is it defined in practice?

These issues are considered in the collection of essays What’s the use of race? Modern governance and the biology of difference, edited by Dr Ian Whitmarsh of the University of California San Francisco, and Dr David Jones at the Massachusetts Institute of Technology. The contributors explore the use of race in biomedical research and some of the emerging practical applications in medicine and forensic science. Their diverse and sometimes conflicting perspectives result in an engaging book that highlights the complexity of the issue.
 
Genetics has become the foundation of a new ‘biocitizenship’, where it is our civic duty to know and share our own genetic information and engage with our health at a molecular level. Common genetic make-up replaces common social experience, and group identities are carved along lines of shared genetic traits, ‘reinterpreting existing political identities and creating new ones’, says Professor Dorothy Roberts, from Northwestern University. Social and political categories of difference—such as gender or race…

…In the medical setting, subtle statistical differences are often interpreted as blanket differences between races, and individual patients are assumed to reflect the average characteristics of their race. But Jay Kaufman, associate professor of epidemiology at McGill University, and Professor Richard Cooper, of Loyola University, Chicago, demonstrate that in practice, a patient’s ethnic identity adds little to the diagnosis or prognosis of disease and is rarely medically relevant.

The essays of Professor Jonathan Kahn (Hamline University), and Pamela Sankar, associate professor of bioethics at the University of Pennsylvania emphasise how embedded racial categories are in forensic science, giving examples of DNA fingerprinting and phenotyping. Originally, racial information was used in DNA fingerprinting technology to improve accuracy, but as it has improved substantially, Professor Kahn argues it is now superfluous, irrelevant, and risks perpetuating racial stereotypes – ‘conflating race, genes and violent crime’…

…Should race be used at all in medical research? Many authors argue that its inclusion reifies the concept of race as a fundamental human characteristic. But Dr Kaufmann, Professor Cooper, and Harvard School of Public Health Professor Nancy Krieger suggest race does have a place in biomedical research, as a social category—including information about race or ethnicity is a way of documenting health inequalities, which would otherwise be invisible and ignored….

Read the entire review here.

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