Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan

Posted in Articles, Health/Medicine/Genetics, Media Archive on 2014-10-06 21:35Z by Steven

Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan

BMC Medical Ethics
Volume 15, Issue 1, December 2014
DOI: 10.1186/1472-6939-15-33

Yasuko Takezawa, Kazuto Kato, Hiroki Oota, Timothy Caulfield, Akihiro Fujimoto, Shunwa Honda, Naoyuki Kamatani, Shoji Kawamura, Kohei Kawashima, Ryosuke Kimura, Hiromi Matsumae, Ayako Saito, Patrick E Savage, Noriko Seguchi, Keiko Shimizu, Satoshi Terao, Yumi Yamaguchi-Kabata, Akira Yasukouchi, Minoru Yoneda, Katsushi Tokunaga

Background

A challenge in human genome research is how to describe the populations being studied. The use of improper and/or imprecise terms has the potential to both generate and reinforce prejudices and to diminish the clinical value of the research. The issue of population descriptors has not attracted enough academic attention outside North America and Europe. In January 2012, we held a two-day workshop, the first of its kind in Japan, to engage in interdisciplinary dialogue between scholars in the humanities, social sciences, medical sciences, and genetics to begin an ongoing discussion of the social and ethical issues associated with population descriptors.

Discussion

Through the interdisciplinary dialogue, we confirmed that the issue of race, ethnicity and genetic research has not been extensively discussed in certain Asian communities and other regions. We have found, for example, the continued use of the problematic term, “Mongoloid” or continental terms such as “European,” “African,” and “Asian,” as population descriptors in genetic studies. We, therefore, introduce guidelines for reporting human genetic studies aimed at scientists and researchers in these regions.

Conclusion

We need to anticipate the various potential social and ethical problems entailed in population descriptors. Scientists have a social responsibility to convey their research findings outside of their communities as accurately as possible, and to consider how the public may perceive and respond to the descriptors that appear in research papers and media articles.

…Another example of the challenges associated with the use of population descriptors can be found in the frequent use of the terms European, African, and Asian. These continental terms are tremendously broad in scope. At the Tokyo meeting, for example, it was noted that even among the Japanese researchers, there was no unitary understanding of what populations should be considered “Asian.”

More importantly, these terms can, in some contexts, be interpreted as referring to white, black, and Asian, the three classic, and socially constructed “races.” There continues to be a great deal of academic work that highlights the degree to which these broad “racial” categories are, in reality, social constructs. Although we should not overlook the correlation between “race” and socio-economic inequality involving factors such as health care and medical care, such discussion has usually arisen within the context of some North American and European societies. However, outside of these societies, the divergence between samples and population descriptors is also problematic. When the actual samples in the name of “European”, “African”, and “Asian” are taken from certain limited groups, without taking into account significant diversity within each region, it is unlikely that such broad terms have any scientific meaning, at least from the perspective of genetics on the global level. Moreover, the research results may be taken as supporting the classic “racial” categories, with any discovered “differences” misinterpreted as genetically determined “racial differences.”

The importance of the distinction between race and ethnicity cannot be overemphasized as the latter pays close attention to (presumably) shared cultural factors such as language, diet, and religion. When considering the contribution of environmental as well as genetic factors to diversity within each continental region, the scientific validity of the use of such broad terms to describe samples becomes even more questionable…

The above study highlights that even populations traditionally presumed to have a high degree of homogeneity may have local genetic differentiations, that make the use of broader population terms less scientifically or clinically relevant. Researchers should strive to select terms that, as much as possible, reflect the sample population and nature of each study. Since genetic subpopulation structure is still generally unknown, sampling without considering the specifics of the subject population could cause false positive results on risk alleles of diseases. In addition, differences in whole genome sequences between individuals belonging to different populations should not be overgeneralized and misinterpreted as population differences…

Read the entire article here.

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Race and ancestry in biomedical research: exploring the challenges

Posted in Articles, Health/Medicine/Genetics, Media Archive, Politics/Public Policy on 2013-10-13 18:43Z by Steven

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

BĂ©atrice SĂ©guin
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…

Read the entire correspondence here.

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