Words matter: The language of difference in human genetics

Mildred K. Cho, Maria Laura Duque Lasio, Ina Amarillo, Kevin Todd Mintz, Robin L. Bennett, Kyle B. Brothers

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Article number100343
JournalGenetics in Medicine
Issue number3
StatePublished - Mar 2023

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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