Special Article| Volume 25, ISSUE 3, 100343, March 2023

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Words matter: The language of difference in human genetics

  • Mildred K. Cho
    Correspondence and requests for materials should be addressed to Mildred K. Cho, Stanford Center for Biomedical Ethics and Departments of Medicine and Pediatrics, Stanford University, 300 Pasteur Drive, Edwards Research Building, Stanford, CA 94305.
    Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA

    Departments of Medicine and Pediatrics, Stanford University, Stanford, CA
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  • Maria Laura Duque Lasio
    Division of Genetics & Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO

    Division of Laboratory and Genomic Medicine, Department of Pathology & Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO
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  • Ina Amarillo
    Department of Pathology and Laboratory Medicine, Penn State College of Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, PA
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  • Kevin Todd Mintz
    Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA
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  • Robin L. Bennett
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA
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  • Kyle B. Brothers
    Norton Children’s Research Institute Affiliated with the University of Louisville, Louisville, KY
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Published:December 16, 2022DOI:


      Diversity, equity, and inclusion efforts in academia are leading publishers and journals to re-examine their use of terminology for commonly used scientific variables. This reassessment of language is particularly important for human genetics, which is focused on identifying and explaining differences between individuals and populations. Recent guidance on the use of terms and symbols in clinical practice, research, and publications is beginning to acknowledge the ways that language and concepts of difference can be not only inaccurate but also harmful. To stop perpetuating historical wrongs, those of us who conduct and publish genetic research and provide genetic health care must understand the context of the terms we use and why some usages should be discontinued. In this article, we summarize critiques of terminology describing disability, sex, gender, race, ethnicity, and ancestry in research publications, laboratory reports, diagnostic codes, and pedigrees. We also highlight recommendations for alternative language that aims to make genetics more inclusive, rigorous, and ethically sound. Even though norms of acceptable language use are ever changing, it is the responsibility of genetics professionals to uncover biases ingrained in professional practice and training and to continually reassess the words we use to describe human difference because they cause harm to patients.


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