Open Access Highly Accessed Correspondence

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

Yasuko Takezawa1*, Kazuto Kato2, Hiroki Oota3, Timothy Caulfield4, Akihiro Fujimoto5, Shunwa Honda6, Naoyuki Kamatani7, Shoji Kawamura8, Kohei Kawashima9, Ryosuke Kimura10, Hiromi Matsumae3, Ayako Saito11, Patrick E Savage12, Noriko Seguchi13, Keiko Shimizu14, Satoshi Terao15, Yumi Yamaguchi-Kabata16, Akira Yasukouchi17, Minoru Yoneda18 and Katsushi Tokunaga19

Author Affiliations

1 Institute for Research in Humanities, Kyoto University, Yoshidahonmachi, Sakyo-ku, Kyoto 606-8501, Japan

2 Department of Biomedical Ethics and Public Policy, Graduate School of Medicine, Osaka University, Suita, Japan

3 Laboratory of Genome Anthropology, Department of Anatomy, Kitasato University School of Medicine, Sagamihara, Japan

4 Faculty of Law and the School of Public Health, University of Alberta, Edmonton, Canada

5 Laboratory of Medical Informatics, RIKEN Center for Genomic Medicine, Yokohama, Japan

6 The Open University of Japan, Tokyo, Japan

7 Institute of Data Analysis, StaGen Co.Ltd., Tokyo, Japan

8 Department of Integrated Biosciences, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Japan

9 Department of English Language and British and American Studies, Faculty of Humanities, Musashi University, Tokyo, Japan

10 Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan

11 Department of Art Studies, Meiji Gakuin University, Tokyo, Japan

12 Department of Musicology, Tokyo University of the Arts, Tokyo, Japan

13 Department of Environmental Changes, Graduate School of Social and Cultural Studies, Kyushu University, Fukuoka, Japan

14 Department of Zoology, Faculty of Science, Okayama University of Science, Okayama, Japan

15 Graduate School of Medicine, Kobe University, Kobe, Japan

16 Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Miyagi, Japan

17 Department of Human Science, Faculty of Design, Kyushu University, Fukuoka, Japan

18 Laboratory for Radiocarbon Dating, The University Museum, The University of Tokyo, Tokyo, Japan

19 Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

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BMC Medical Ethics 2014, 15:33  doi:10.1186/1472-6939-15-33

Published: 23 April 2014



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.


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.


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.

Population descriptors; Ethics; Labeling; Race; Ethnicity; Japanese; Asian; Mongoloid