Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice

J Med Genet. 2024 Mar 21;61(4):313-318. doi: 10.1136/jmg-2023-109370.


Background: The terms ancestry, race and ethnicity are used variably within the medical literature and within society and clinical care. Biological lineage can provide an important context for the interpretation of genomic data, but the language used, and practices around when to ascertain this, vary.

Methods: Using a fictional case scenario we explore the relevance of questions around ancestry, race and ethnicity in clinical genetic practice.

Results: In the UK, data on 'ethnicity' are routinely collected by those using genomic medicine, as well as within the wider UK National Health Service, although the reasons for this are not always clear to practitioners and patients. Sometimes it is requested as a proxy for biological lineage to aid variant interpretation, refine estimations of carrier frequency and guide decisions around the need for pharmacogenetic testing.

Conclusion: There are many challenges around the use and utility of these terms. Currently, genomic databases are populated primarily with data from people of European descent, and this can lead to health disparities and poorer service for minoritised or underserved populations. Sensitivity and consideration are needed when communicating with patients around these areas. We explore the role and relevance of language around biological lineage in clinical genetics practice.

Keywords: ancestry; ethnicity; genomics; human genetics; race.

MeSH terms

  • Ethnicity* / genetics
  • Humans
  • Language
  • State Medicine*