Example concerns with the use of 'race' in genetic research (long version including quoted
Example research concerns
• Stratification by race is being used on the assumption it can serve as a
proxy for genetic similarity, but there is disagreement regarding the
degree to which race correlates with genetic variation.
Support for the existence of geographical ancestry-informative genetic clusters
that correspond with the common conception of racial groups
'We examined 30 microsatellite loci in about 10 individuals from each of 14
indigenous populations chosen from the five continents... A tree constructed from
the pairwise inter-individual distances shows that individuals cluster according to
their geographic origin'.
'Without using prior information about the origins of the individual, we identified
6 major genetic clusters, 5 of which correspond to major geographical regions'.
'We provide an epidemiological perspective on the issue of human categorization
in biomedical and genetic research that strongly supports the continued use of
self-identified race and ethnicity '.
'Bayesian cluster analysis was largely concordant with previous analyses of
microsatellite and short insertion-deletion polymorphisms. Analysis with 6
clusters revealed groupings corresponding to 5 geographic subdivisions separated
by major barriers...'
'At K=5, the 938 individuals segregate into5 continental ancestral groups...Many
populations have been isolated from each other by geography or custom. The
observation that they are genetically distinguishable suggests that self-reported
ancestry is sufficiently accurate for assessing population stratification in disease
studies, except for those involving recent admixture'.
Support for the non-existence of racially-informative genetic clustering
'Human races are not distinct lineages, and this is not due to recent admixture;
human races are not and never were ‘pure’. Instead, human evolution has been
and is characterized by many locally differentiated populations coexisting at any
given time, but with sufficient genetic contact to make all of humanity a single
lineage sharing a common evolutionary fate'.
'We find that commonly used ethnic labels are both insufficient and inaccurate
representations of the inferred genetic clusters, and that drug-metabolizing
profiles, defined by the distribution of DME variants, differ significantly among the
'The distribution of variants within and among human populations... are
impossible to describe succinctly because of the difficulty of defining a
'population', the clinal nature of variation and heterogeneity across the genome'.
Our results show that individuals are sampled homogeneously from around the
globe, the pattern seen is one of the gradients of allele frequencies that extend
over the entire world, rather than discrete clusters. Therefore, there is no reason
to assume that major genetic discontinuities exist between different continents or
'This study suggests that significant population substructure differences exist that
self-reported race alone does not capture and that individual ancestry may be
confounded with disease-status and/or a candidate gene risk genotype'.
• There is a lack of agreement both in the public sphere and amongst
researchers on what is meant by the term 'race'. In genetic
research it is not being defined or applied consistently, nor is a
rationale for the analysis of race in studies being consistently
provided. This leads to a lack of clarity about the groups being
investigated, hindering reproducibility and generalizability between
studies, and slowing scientific progress.
'A careful examination of the discourse on race suggests there is
miscommunication: different usages of the term exist which reflects a melange of
old science, social practice and their entwined histories. Hence there is much
'The Institute of Medicine (IOM) recently recommended that the National
Institutes of Health (NIH) re-evaluate its employment of 'race', a concept lacking
scientific or anthropological justification, in cancer surveillance and other
'Some of the complexity of race comes from its multiple overlapping meanings
that span popular and scientific use. Further confusion in generated, however, by
the tendency to leave race undefined'.
'The confused nature of this debate is apparent when we recognize that although
everyone ... tends to use race as if it were a scientific category... no one offers a
quantifiable definition of what race is in genetic terms'.
''Race' and 'ethnicity' are poorly defined terms that serve as flawed surrogates for
multiple environmental and genetic factors in disease causation, including
ancestral geographic origins, socioeconomic status, education and access to
'Religious, cultural, social, national, ethnic, linguistic, genetic, geographical and
anatomical groups have all been and are sometimes still referred to races'.
'The use of race as a category in medical research is the focus of an intense
debate, complicated by the inconsistency of presumed independent variables,
race and ethnicity, on which analysis depends. More attention needs to be given
to the definition of race and ethnicity in genetic studies'.
'The recommendation that authors using race or ethnicity terms explain the basis
for assigning them to study populations was met infrequently (9.1%), and articles
that used race and ethnicity as variables were no more likely than those that
used them only to label a sample to provide these details. No article defined or
discussed the concepts of race or ethnicity'.
Example social concerns
• Stratification by race in genetic research may over-emphasize the role of
genetics as the basis for health disparities deflecting research funding and
attention away from the substantial socio-economic and political
determinants of inequities.
' We suggest the application of a naive genetic determinism will not only reinforce
the idea that distinct genetic races exist, but will divert attention from the
complex environmental, behavioural and social factors contributing to a excess
burden of illness among certain segments of the diverse US population'.
'Thus, in practice genetic explanations for observed differences are common both
in the scientific literature and in popular media accounts of biomedical research.
Such explanations naturalize racial and ethnic difference and create a conceptual
barrier to developing a research program that explores the complex ways in
which social inequality and experiences of racial discrimination interact with
human biology to influence patterns of disease'.
'Defining the molecular underpinnings of common chronic disease has therefore
become the central focus of genetic epidemiology... Genes are regularly proposed
as the cause when no genetic data have been obtained'.
'Overemphasis on genetics as a major explanatory factor in health disparities
could lead researchers to miss factors that contribute to disparities more
substantially and may also reinforce racial stereotyping, which may contribute to
disparities in the first place'.
'Clearly, a tendency for biological reductionism can place many biomedical issues
beyond the scope of public health interventions'.
'These efforts to racialize or geneticize disease have several dangerous
implications; they may compromise the health of people of colour by eliminating
from consideration the social determinants of
• Use of race to categorize groups in genetic research may lead to over-
emphasis of the relative magnitude of genetic differences between
populations and to the reification of 'race' as a natural genetically-
determined system of human classification (leading to 'racialization' and a
belief in genetic underpinnings for social inequities and differences
'As opposed to a catalogue of attributes, race is best understood as the result of a
process that distinguishes groups through prevailing social values and
institutional practices. In this process of racialization, group differences and social
inequalities are often rearticulated as biological realities'.
'Although the project (HapMap) used population samples rather than racial or
ethnic groupings... the project ran the risk that this first approximation of human
population structure might be subsequently taken as evidence for a new
categorization of human stereotypes'. 
'Many social scientists have suggested that by linking 'racial' or 'ethnic'
categories to biology (especially genetics), one reifies these categories and
thereby influence attitudes and behaviour'.
' ...is also known as the fallacy of reification. Recent research in medicine and
genetics makes it even more crucial to resist actively the temptation to deploy
racial categories as if immutable in nature and society'.
'This discussion focuses on an 'infrastructure of racialization' created by current
trajectories for research on genetic differences among racially defined
'We must avoid the slippery slope of turning socially constructed racial categories
into genetic realities'.
• Use of racial or population groups in studies to identify the genetic
variation underlying disease susceptibilities can lead to 'racialization' of
disease, whereby the disease state becomes irrevocably identified and
linked with that group. (This can lead to several secondary outcomes
including; the discrimination and stigmatization of members of the group
in question; decreased access to information, surveillance and treatment
that may be valuable to other groups).
'The implications of the use of race in the new genomic medicine - in particular
racialized disease- are discussed. We warn of the consequences of a shift toward
population-based care, including targeted genetic screening for racially-
indentified groups, including stigmatization and discrimination'.
'Other groups that have been invited to participate in genetics research have
expressed similar concerns, particularly around the tendency to conflate genes
with race and the fear that knowledge of genetic risk will be used to stigmatize
the group at large’.
'Researchers incorporate race in research designs in several ways... Even if in
rare circumstances, certain alleles have been found exclusively in one population,
to call a chromosome white or Asian makes an inappropriate link between a
rapidly shifting social term and a fixed biological entity'.
'We explored the advantages and disadvantages of using ethnic (ie. racial as they
use race in the text of this report) categories in genetic research. With the
discovery that certain breast cancer gene mutations appeared to be more
prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from
high-risk families to ethnicity... Our findings cast doubt on the accuracy and
desirability of linking ethnic groups to genetic disease. Such linkages exaggerate
genetic differences among ethnic groups and lead to unequal access to testing
Example clinical/health care concerns
• The descriptive use of race in genetic and biomedical research can
lead to racial stereotyping in clinical practice. For example, the use
of perceived or self-identified 'race' as a proxy for genotype in
prescribing most often overly simplifies the concept of
pharmacogenomics. Diagnosis or assessment of disease risk based
on 'race' similarly can result in serious medical errors.
'Drawing on the example of HIV/AIDS, this paper demonstrates how public health
has been undermined by the use of race/ethnicity as an analytical variable, both
as a cipher for innate genetic differences in susceptibility and response to
' Importantly, they produce, reify, and naturalize notions of racial difference,
provide a scientific rationale for racially targeted medical care, and distract
attention from research that probes the complex ways in which political,
economic, social, and biological factors, especially those of inequality and racism,
cause health disparities'.
'Modern human population genetic research demonstrates that apportioning
human into 'racial' groups, particularly those defined by our historical conceptions
of race, is a dubious enterprise. Dangerous consequences may follow from the
integration of racial medicine into clinical practice. In addition to fostering social
inequality by underscoring racial classification, racial medicine racial medicine
might kill people by ignoring the substantial variation within, and genetic overlap
between, human populations'.
'Both historical evidence and contemporary genetic research suggest that “racial
profiling” in medicine can lead to serious medical errors. Assessing risk through
race is more problematic than its typical depiction in the media and in scholarly
literature. Some argue that race can stand in for human genetic variance until
individualized genetic medicine is fully developed. But such a position produces a
critical paradox: the rates of morbidity and death from particular diseases are not
uniformly distributed among socially defined racial and ethnic groups throughout
the world. In order to monitor the success of attempts to address these health
inequalities, we need to keep health records based on racial and ethnic
categories. This is a descriptive use of ethnoracial categories. Descriptive
statistics derived from population surveys using racial definitions based on self-
identity, however, are not biological or attributive categories appropriate for
'It is possible that the ongoing controversy over race-based ("population-dosing”)
pharmacotherapy will fade as large scale genotyping of PGx traits becomes more
economical, and applied more extensively to inform drug therapy decisions.
Regarding admixed populations, I believe that the evidence already available
argues strongly against the use of racial/ethnic criteria as a guidance to drug
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