A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement

Madelyn Mauro, Danielle S. Allen, Bege Dauda, Santiago J. Molina, Benjamin M. Neale, Anna C.F. Lewis*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations

Abstract

The use of population descriptors such as race, ethnicity, and ancestry in science, medicine, and public health has a long, complicated, and at times dark history, particularly for genetics, given the field's perceived importance for understanding between-group differences. The historical and potential harms that come with irresponsible use of these categories suggests a clear need for definitive guidance about when and how they can be used appropriately. However, while many prior authors have provided such guidance, no established consensus exists, and the extant literature has not been examined for implied consensus and sources of disagreement. Here, we present the results of a scoping review of published normative recommendations regarding the use of population categories, particularly in genetics research. Following PRISMA guidelines, we extracted recommendations from n = 121 articles matching inclusion criteria. Articles were published consistently throughout the time period examined and in a broad range of journals, demonstrating an ongoing and interdisciplinary perceived need for guidance. Examined recommendations fall under one of eight themes identified during analysis. Seven are characterized by broad agreement across articles; one, “appropriate definitions of population categories and contexts for use,” revealed substantial fundamental disagreement among articles. Additionally, while many articles focus on the inappropriate use of race, none fundamentally problematize ancestry. This work can be a resource to researchers looking for normative guidance on the use of population descriptors and can orient authors of future guidelines to this complex field, thereby contributing to the development of more effective future guidelines for genetics research.

Original languageEnglish (US)
Pages (from-to)2110-2125
Number of pages16
JournalAmerican journal of human genetics
Volume109
Issue number12
DOIs
StatePublished - Dec 1 2022

Funding

We thank the members of the E.J. Safra working group on the concepts of ancestry, genetic ancestry, and population for their input on this work. This work was funded by the NIMH , administrative supplement 5000747-5500001474 to 3R37MH107649-06S1 .

Keywords

  • ancestry
  • ethics
  • ethnicity
  • population descriptors
  • race
  • recommendations
  • scoping review

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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