Mixed Race Studies

Human geneticists curb use of the term ‘race’ in their papers

Science
2021-12-02

Rodrigo Pérez Ortega

Field still struggles with how to accurately describe populations, study finds

Human geneticists have mostly abandoned the word “race” when describing populations in their papers, according to a new study of research published in a leading genetics journal. That’s in line with the current scientific understanding that race is a social construct, and a welcome departure from research that in the past has often conflated genetic variation and racial categories, says Vence Bonham, a social scientist at the National Human Genome Research Institute who led the study.

But alternative terms that have gained popularity, such as “ancestry” and “ethnicity,” can have ambiguous meanings or aren’t defined by genetics, suggesting researchers are still struggling to find the words to accurately describe groups delineated by their DNA, according to the study.

In the 19th and 20th centuries, many geneticists embraced the idea that there were races, such as “Negroid” or “Caucasian,” that were distinct biological groups; such “race science” helped perpetuate discrimination and inequality. (Scientists have now thoroughly demonstrated the lack of a biological basis to racial categories.)…

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Race and ancestry in biomedical research: exploring the challenges

Genome Medicine 2009
Volume 1, Number 8 (2009-01-21)
DOI: 10.1186/gm8

Timothy Caulfield
Faculty of Law and School of Public Health Research, Health Law Institute
University of Alberta

Stephanie M Fullerton
Department of Medical History and Ethics and Department of Genome Sciences
University of Washington School of Medicine

Sarah E Ali-Khan
Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network
University of Toronto

Laura Arbour
Faculty of Medicine, Island Medical Program
University of British Columbia

Esteban G. Burchard
Department of Biopharmaceutical Sciences and Department of Medicine, Divisions of Pharmaceutical Sciences and Pharmacogenetics, Pulmonary & Critical Care Medicine, and Clinical Pharmacology
University of California, San Francisco

Richard S. Cooper
Department of Epidemiology & Preventive Medicine, Stritch School of Medicine
Loyola University

Billie-Jo Hardy
Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network
University of Toronto

Simrat Harry
Faculty of Law and School of Public Health Research, Health Law Institute
University of Alberta

Robyn Hyde-Lay
Genome Alberta, Calgary, Alberta, Canada

Jonathan Kahn
Hamline University School of Law

Rick Kittles
Department of Medicine, Section of Genetic Medicine, Department of Human Genetics
University of Chicago

Barbara A. Koenig
Program in Professionalism & Bioethics
Mayo College of Medicine

Sandra S. J. Lee
Stanford Center for Biomedical Ethics
Stanford University Medical School

Michael Malinowski
Paul M Hebert Law Center
Louisiana State University, Baton Rouge

Vardit Ravitsky
Department of Medical Ethics and Center for Bioethics
University of Pennsylvania, Philadelphia

Pamela Sankar
Department of Medical Ethics and Center for Bioethics
University of Pennsylvania, Philadelphia

Stephen W. Scherer
for Applied Genomics, The Hospital for Sick Children, and Department of Molecular Genetics
University of Toronto

Béatrice Séguin
Leslie Dan School of Pharmacy; Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network
University of Toronto

Darren Shickle
Leeds Institute of Health Sciences,
University of Leeds, United Kingdom

Guilherme Suarez-Kurtz
Pharmacology Division
Instituto Nacional de Câncer, Rio de Janeiro, Brazil

Abdallah S. Daar
Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network; Department of Public Health Sciences and of Surgery; McLaughlin Centre for Molecular Medicine; Department of Medicine
University of Toronto

The use of race in biomedical research has, for decades, been a source of social controversy. However, recent events, such as the adoption of racially targeted pharmaceuticals, have raised the profile of the race issue. In addition, we are entering an era in which genomic research is increasingly focused on the nature and extent of human genetic variation, often examined by population, which leads to heightened potential for misunderstandings or misuse of terms concerning genetic variation and race. Here, we draw together the perspectives of participants in a recent interdisciplinary workshop on ancestry and health in medicine in order to explore the use of race in research issue from the vantage point of a variety of disciplines. We review the nature of the race controversy in the context of biomedical research and highlight several challenges to policy action, including restrictions resulting from commercial or regulatory considerations, the difficulty in presenting precise terminology in the media, and drifting or ambiguous definitions of key terms.

Correspondence

Recent advances in biomedical research promise increasing insights into complex contributions to traits and diseases, and there is hope that these will lead to global health benefits [1,2] . Analytical and social-justice considerations both recommend thoughtful assessment of the role of social identity, particularly racial or ethnic identity, in the design, conduct and dissemination of clinical and basic science research. Controversies ranging from James Watson’s comments on racial differences in intelligence [3] to the adoption of racially targeted pharmaceuticals, such as the African-American heart-failure drug BiDil [4-7] , remind us that use of the concept of race in biomedical research can have far-reaching, often unanticipated social consequences.

The problem of race in scientific research is not a new one, and the issue seems to perpetually reappear and remain fundamentally unresolved [8] . We are, however, entering a new era in which the fruits of initiatives, such as the Human Genome Project [9,10] , the International Haplotype Map Project [11] , and the recently proposed 1000 Genomes Project [12] , promise to elaborate more fully than ever before the nature and extent of human genetic variation and its relation to social identity. A recent interdisciplinary workshop, ‘Ancestry in health and medicine; expanding the debate’, hosted by the Alberta Health Law Institute and the McLaughlin-Rotman Centre for Global Health, in Toronto, Canada, sought to debate the current status and concerns surrounding these new scientific data, how we relate genetic variation to individual and population-level differences in observable traits, and what this might mean for the effective addressing of significant disparities in health status and disease. A central motivating consideration was how best to secure the anticipated benefits of genetic and related forms of biomedical research in the face of inevitable misunderstandings or misuse concerning genetic variation and race.

Here, we draw together the perspectives of the scholars who participated in the workshop, who have considered the race issue from the vantage point of a variety of disciplines: anthropology, bioethics, clinical medicine, ethical, social, cultural studies, genetic epidemiology, genome sciences, global heath research, law and the social sciences. We review the nature of the race controversy in the context of biomedical research and highlight several challenges to policy action…

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Skin pigmentation, biogeographical ancestry and admixture mapping

Human Genetics
Volume 112, Issue 4 (April 2003)
pages 387-399

Mark D. Shriver, Professor of Anthropology
Pennsylvania State University

Esteban J. Parra
Department of Anthropology
University of Toronto at Mississauga

Sonia Dios
Department of Anthropology
Pennsylvania State University

Carolina Bonilla
Department of Anthropology
Pennsylvania State University

Heather Norton
Department of Anthropology
Pennsylvania State University

Celina Jovel
Department of Anthropology
Pennsylvania State University

Carrie Pfaff
Department of Anthropology
Pennsylvania State University

Cecily Jones
National Human Genome Center
Howard University, Washington, D.C.

Aisha Massac
National Human Genome Center
Howard University, Washington, D.C.

Neil Cameron
Takeway Media, London

Archie Baron
Takeway Media, London

Tabitha Jackson
Takeway Media, London

George Argyropoulos
Pennington Center for Biomedical Research, Baton Rouge, Louisiana

Li Jin
Department of Environmental Health
University of Cincinnati, Cincinnati, Ohio

Clive J. Hoggart
Department of Epidemiology and Population Health
London School of Hygiene and Tropical Medicine

Paul M. McKeigue
Department of Epidemiology and Population Health
London School of Hygiene and Tropical Medicine

Rick A. Kittles
National Human Genome Center
Howard University, Washington, D.C.

Ancestry informative markers (AIMs) are genetic loci showing alleles with large frequency differences between populations. AIMs can be used to estimate biogeographical ancestry at the level of the population, subgroup (e.g. cases and controls) and individual. Ancestry estimates at both the subgroup and individual level can be directly instructive regarding the genetics of the phenotypes that differ qualitatively or in frequency between populations. These estimates can provide a compelling foundation for the use of admixture mapping (AM) methods to identify the genes underlying these traits. We present details of a panel of 34 AIMs and demonstrate how such studies can proceed, by using skin pigmentation as a model phenotype. We have genotyped these markers in two population samples with primarily African ancestry, viz. African Americans from Washington D.C. and an African Caribbean sample from Britain, and in a sample of European Americans from Pennsylvania. In the two African population samples, we observed significant correlations between estimates of individual ancestry and skin pigmentation as measured by reflectometry (R²=0.21, P<0.0001 for the African-American sample and R²=0.16, P<0.0001 for the British African-Caribbean sample). These correlations confirm the validity of the ancestry estimates and also indicate the high level of population structure related to admixture, a level that characterizes these populations and that is detectable by using other tests to identify genetic structure. We have also applied two methods of admixture mapping to test for the effects of three candidate genes (TYR, OCA2, MC1R) on pigmentation. We show that TYR and OCA2 have measurable effects on skin pigmentation differences between the west African and west European parental populations. This work indicates that it is possible to estimate the individual ancestry of a person based on DNA analysis with a reasonable number of well-defined genetic markers. The implications and applications of ancestry estimates in biomedical research are discussed.

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TEDxNorthwesternU – Rick Kittles – The Biology of Race in the Absence of Biological Races

TEDxTalks
2011-01-25

Rick Kittles, Professor of Medicine
University of Illinois, Chicago
College of Medicine

Defining “race” continues to be a nemesis. Knowledge from human genetic research is increasingly challenging the notion that race and biology are inextricably linked, engendering tremendous ramifications for human relations, identity and public health. It has become fashionable for geneticists and anthropologists to declare that race is a social construction. However, there is little practical value to this belief since few in the public believe and act on it. Thus race is mainly a social concept which in the US has been based on skin color and ancestry. Yet biomedical studies continue to examine black/ white differences. Kittles discusses why using race in biomedical studies is problematic using examples from U.S. groups which transcend “racial” boundaries and bear the burden of health disparities.

Rick Kittles, PhD, received a BS in biology from the Rochester Institute of Technology in 1989 and a PhD in biological sciences from George Washington University in 1998. He then helped establish the National Human Genome Center at Howard University. Currently, Kittles is an associate professor of medicine in the Division of Epidemiology and Biostatistics at the University of Illinois at Chicago (UIC), as well as the associate director of the UIC Cancer Center.

Kittles is well known for his research of prostate cancer and health disparities among African Americans. He has also been at the forefront of the development of ancestry-informative genetic markers, and how genetic ancestry can be used to map genes for common traits and disease. His work on tracing the genetic ancestry of African Americans has brought light to many issues, new and old, which relate to race, ancestry, identity, and group membership.

In the spirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TEDx event, TEDTalks video and live speakers combine to spark deep discussion and connection in a small group. These local, self-organized events are branded TEDx, where x = independently organized TED event. The TED Conference provides general guidance for the TEDx program, but individual TEDx events are self-organized.

Race as a Social Construct in Head and Neck Cancer Outcomes

Otolaryngology—Head Neck Surgery
Volume 144, Number 3 (March 2011)
pages 381-389
DOI: 10.1177/0194599810393884

Maria J. Worsham, PhD
Department of Otolaryngology/Head and Neck Surgery
Henry Ford Health System, Detroit, Michigan

George Divine, PhD
Biostatistics and Research Epidemiology
Henry Ford Health System, Detroit, Michigan

Rick A. Kittles, PhD
Section of Hematology/Oncology, Department of Medicine and Division of Epidemiology and Biostatistics
School of Public Health, University of Illinois, Chicago

Objective. The authors examined ancestry informative markers (AIMs) to estimate the amount of population admixture and control for this heterogeneity for stage and survival in a primary head and neck squamous cell carcinoma (HNSCC) cohort.

Study Design. Historical cohort study.

Setting. Integrated health care system.

Subjects. The cohort comprised 358 patients with HNSCC who self-reported race as Caucasian American (CA), African American (AA), or other.

Methods. DNA was interrogated for West African (WA) and European genetic background by genotyping AIMs. Associations of race (self-report or WA ancestry) with stage and survival were analyzed using logistic regression and Cox regression modeling. A subgroup analysis for diagnosis (late vs early stage) and survival (time to death) and WA ancestry was performed for self-reported AAs.

Results. There were significant associations between stage and self-reported race (P = .04 [univariate]) and with cancer site (oropharynx: P = .014; hypopharynx: P = .026 [multivariate]). For prognosis, there were significant multivariate associations between stage (P = .002), age (>65 years, P < .001), and cancer site (hypopharynx: P < .001; oral cavity: P = .049), but self-reported race was not associated with overall survival. Interestingly, there was no association with degree of WA ancestry and stage or survival. In the subgroup analysis of genetic ancestry among self-reported AAs, cancer site remained an independent risk factor for stage (other site: P = .026) and survival (oropharynx: P = .036). Late stage persisted as an independent variable for poor survival (P = .032).

Conclusions. Stratification within AAs by WA ancestry revealed no correlation with stage or survival, suggesting that HNSCC outcomes with race may be owing to social/behavior factors rather than biological differences.

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