Matthew L. Tschirgi, Khalida Liaquat, Meenakshi Mahey Kumar, Kate L. Wilson

Traditionally, the field of genetics has used patient-reported genetic ancestry to assist in risk assessment, calculate detection rates, and understand residual risks for recessive or X-linked genetic diseases. Patient-reported genetic ancestry is useful for variant curation, based on practice guidelines from medical societies. Words used to describe a person's race, ethnicity, and genetic ancestry have changed over the last few centuries, especially in the last few decades. The origin and use of Caucasian to describe people of European ancestry have come into question. With recommendations from the Department of Health and Human Services (HHS) and the American College of Medical Genetics and Genomics (ACMG), among other organizations, the medical and genetics communities are moving away from using this term altogether. The purpose of this article is to review the history of the word Caucasian and to provide evidence that it should be avoided when documenting genetic ancestry in medical records, laboratory forms, and medical research.

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