Words matter: The language of difference in human genetics

Area of Science:

• Human genetics
• Bioethics
• Scientific communication

Background:

• Academic diversity, equity, and inclusion initiatives prompt reevaluation of scientific terminology.
• Language used in human genetics can perpetuate historical inaccuracies and cause harm.
• Existing guidance highlights the need to address problematic terms in research and clinical practice.

Purpose of the Study:

• To critique current terminology for human differences in genetics.
• To recommend inclusive and ethically sound language alternatives.
• To emphasize the responsibility of genetics professionals in language use.

Main Methods:

• Summarizing critiques of terminology related to disability, sex, gender, race, ethnicity, and ancestry.
• Reviewing current practices in research publications, laboratory reports, diagnostic codes, and pedigrees.
• Highlighting recommendations for alternative language.

Main Results:

• Identified critiques of terminology used to describe human variation in genetics.
• Presented recommendations for more inclusive and accurate language.
• Emphasized the potential harm caused by outdated or biased terms.

Conclusions:

• Genetics professionals must actively reassess and update terminology to ensure ethical and rigorous scientific practice.
• Adopting inclusive language is crucial for mitigating harm to patients and advancing health equity.
• Continuous reevaluation of language is necessary as societal norms evolve.