Words matter: The language of difference in human genetics

Diversity, equity, and inclusion efforts in academia are leading publishers and journals to reexamine 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.& COPY; 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Automated summary

Efforts to promote diversity, equity, and inclusion in academia have prompted publishers and journals to reevaluate their use of terminology in scientific research. This is particularly important in the field of human genetics, where differences between individuals and populations are studied. Recent guidelines acknowledge the potential inaccuracy and harm of certain language and concepts related to disability, sex, gender, race, ethnicity, and ancestry. This article summarizes critiques of current terminology and provides recommendations for alternative language to make genetics more inclusive and ethically sound.