Population designations in biomedical research: Limitations and perspectives

Article Article scientifique Revue de la littérature Population designations in biomedical research: Limitations and perspectives eng 2022-11-05 2022-11-05 author Gombault Caroline Laboratoire de Biométrie et Biologie Evolutive Université Lyon 1, UMR CNRS 5558 Lyon France author Grenet Guillaume 0000-0002-5237-2581 Laboratoire de Biométrie et Biologie Evolutive Université Lyon 1, UMR CNRS 5558 Lyon France author Segurel Laure 0000-0001-7339-0976 Laboratoire de Biométrie et Biologie Evolutive Université Lyon 1, UMR CNRS 5558 Lyon France author Duret Laurent Laboratoire de Biométrie et Biologie Evolutive Université Lyon 1, UMR CNRS 5558 Lyon France 107849 author Gueyffier François Laboratoire de Biométrie et Biologie Evolutive Université Lyon 1, UMR CNRS 5558 Lyon France author Cathébras Pascal Service de Médecine Interne Hôpital Nord, CHU de Saint‐Etienne Saint‐Etienne France author Pontier Dominique 0000-0003-4700-3543 Laboratoire de Biométrie et Biologie Evolutive Université Lyon 1, UMR CNRS 5558 Lyon France author Mainbourg Sabine Laboratoire de Biométrie et Biologie Evolutive Université Lyon 1, UMR CNRS 5558 Lyon France author Sanchez-Mazas Alicia 0000-0002-7714-2432 Laboratory of Anthropology, Genetics and Peopling history, Department of Genetics and Evolution University of Geneva Geneva Switzerland 22545 Département de génétique et évolution (Genev) (BIANI) author Lega Jean‐Christophe 0000-0002-9398-2968 Laboratoire de Biométrie et Biologie Evolutive Université Lyon 1, UMR CNRS 5558 Lyon France 3-15 10.1111/tan.14852 36258305 2059-2302 PMC10099491 https://onlinelibrary.wiley.com/doi/10.1111/tan.14852 <p>In biomedical research, population differences are of central interest. Variations in the frequency and severity of diseases and in treatment effects among human subpopulation groups are common in many medical conditions. Unfortunately, the practices in terms of subpopulation labeling do not exhibit the level of rigor one would expect in biomedical research, especially when studying multifactorial diseases such as cancer or atherosclerosis. The reporting of population differences in clinical research is characterized by large disparities in practices, and fraught with methodological issues and inconsistencies. The actual designations such as “Black” or “Asian” refer to broad and heterogeneous groups, with a great discrepancy among countries. Moreover, the use of obsolete concepts such as “Caucasian” is unfortunate and imprecise. The use of adequate labeling to reflect the scientific hypothesis needs to be promoted. Furthermore, the use of “race/ethnicity” as a unique cause of human heterogeneity may distract from investigating other factors related to a medical condition, particularly if this label is employed as a proxy for cultural habits, diet, or environmental exposure. In addition, the wide range of opinions among researchers does not facilitate the attempts made for resolving this heterogeneity in labeling. “Race,” “ethnicity,” “ancestry,” “geographical origin,” and other similar concepts are saturated with meanings. Even if the feasibility of a global consensus on labeling seems difficult, geneticists, sociologists, anthropologists, and ethicists should help develop policies and practices for the biomedical field.</p> Biomedical translational science Cultural diversity Ethnicity Genetic variation Racial groups Dewey 590 Swiss National Science Foundation Early human settlements in contrasting environments: HLA molecular variation and its link to population expansions and immune adaptation 144180 CH Projects 44 Département de génétique et évolution 162 false HLA 101 1 aeb730eb-e959-4256-8b89-27d300660408 Article (Published version) Public SANCHEZ-MAZAS01.pdf 1564670 application/pdf CC BY-NC-4.0 d00719628893865d24dafdac18285e2c687835f80954afa36cd165b6c7f1402d openAccess Faculté des sciences / Section de biologie / Département de génétique et évolution

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Population designations in biomedical research: Limitations and perspectives	HLA	2022	94	197
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