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

Abstract

BackgroundA 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.DiscussionThrough 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.ConclusionWe 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.

Time- and Race-Specific Haematological Reference Intervals for Healthy Volunteer Trials: A Retrospective Analysis of Pooled Data From Multiple Phase I Trials

“…Nevertheless, this study was high-powered: it analyzed 13,332 blood samples from 7,157 healthy volunteers, adding significant weight to the body of evidence which indicates that WBC count parameters within healthy trial volunteers vary by time of day and race Furthermore, blood samples were grouped according to the volunteers' self-ascribed racial groups. As ascription of race is acknowledged as a poor marker for genetic diversity (Takezawa et al, 2014;Duster, 2015), it would be preferable but possibly impractical to group subjects according to the Duffy antigen allele they possess at the time of recruitment.…”

Science, Race and Ethics

“…Action: Policy and publication with scientific integrity How scientists report research findings is important, because it has the potential to reinforce prejudice in terms of race and ethnicity, thereby reducing the value of scientific research. 44 Generalisation from small studies to whole populations is also problematic. This is especially important in the wording of the title of the study.…”

“…In research it is important to describe the study population in a scientifically valid way, using geographical location and specific descriptors. 45 We have learned from the International HapMap project to refer, for example, to the "Yoruba in Ibadan, Nigeria" or the "Han Chinese, in Beijing, China". 46 When race or ethnicity are used as research variables, the reason for its use must be provided when a project is submitted to a Research Ethics Committee (REC) for review.…”

Special Section on Nativism, Nationalism, and Xenophobia: What Anthropologists Do and Have Done

“…Scientists can become more attuned to the issues surrounding racism, offering an opportunity to reexamine group definitions and labels, while for cultural anthropologists, obtaining more exact information regarding human diversity should make it possible to reach a level of comprehension that transcends an extreme social constructionism. A guideline regarding population labeling in anthropology and medicine put forth in a paper published in BMC Medical Ethics and coauthored by twenty people is an example of the fruits of such interdisciplinary dialogue (Takezawa et al 2014).…”