Ancestry: How Researchers Use It, and What They Mean by It

25 Pages Posted: 16 Dec 2022

See all articles by Bege Dauda

Bege Dauda

University of Pennsylvania

Santiago J. Molina

University of California, Berkeley

Danielle Allen

University of Chicago - Department of Political Science

Agustin Fuentes

University of Notre Dame

Nayanika Ghosh

Harvard University - Department of the History of Science

Madelyn Mauro

Harvard University - Edmond J. Safra Center for Ethics

Benjamin M. Neale

Harvard University - Center for Human Genetic Research

Aaron Panofsky

University of California, Los Angeles (UCLA)

Mashaal Sohail

Universidad Nacional Autónoma de México UNAM

Sarah Zhang

University of California, Berkeley

Anna Lewis

Harvard University - Edmond J. Safra Center for Ethics; Independent

Date Written: September 14, 2022

Abstract

Background: Ancestry is often viewed as a more objective and less objectionable population descriptor than race or ethnicity. Perhaps reflecting this, usage of the term “ancestry” is rapidly growing in genetics research, with ancestry groups referenced in many situations. The appropriate usage of population descriptors in genetics research is an ongoing source of debate. Sound normative guidance should rest on an empirical understanding of current usage; in the case of ancestry, questions about how researchers use the concept, and what they mean by it, remain unanswered.

Methods: Systematic literature analysis of 205 articles from diverse disciplines that use the concept of ancestry, and semi-structured interviews with 44 lead authors of some of those articles.

Results: Ancestry is relied on to structure research questions and key methodological approaches. Yet researchers struggle to define it, and/or offer diverse definitions. For some ancestry is a genetic concept, but for many — including geneticists — ancestry is only tangentially related to genetics. For some interviewees, ancestry is explicitly equated to ethnicity; for others it is explicitly distanced from it. Ancestry is operationalized using multiple data types (including genetic variation and self-reported identities), though for a large fraction of articles (26%) it is impossible to tell which data types were used. Across the literature and interviews there is no consistent understanding of how ancestry relates to genetic concepts (including genetic ancestry and population structure), nor how these genetic concepts relate to each other. Beyond this conceptual confusion, practices related to summarizing patterns of genetic variation often rest on uninterrogated conventions. Continental labels are by far the most common type of label applied to ancestry groups. We observed many instances of slippage between reference to ancestry groups and racial groups.

Conclusions: Ancestry is in practice a highly ambiguous concept, and far from an objective counterpart to race or ethnicity. It is not uniquely a “biological” construct, and it does not represent a “safe haven” for researchers seeking to avoid evoking race or ethnicity in their work. Distinguishing genetic ancestry from ancestry more broadly will be a necessary part of providing conceptual clarity.

Keywords: ancestry, genetic ancestry, ethnicity, race, population labels, population descriptors, ELSI, genomics, genetics

Suggested Citation

Dauda, Bege and Molina, Santiago J. and Allen, Danielle and Fuentes, Agustin and Ghosh, Nayanika and Mauro, Madelyn and Neale, Benjamin M. and Panofsky, Aaron and Sohail, Mashaal and Zhang, Sarah and Lewis, Anna, Ancestry: How Researchers Use It, and What They Mean by It (September 14, 2022). Available at SSRN: https://ssrn.com/abstract=4219080 or http://dx.doi.org/10.2139/ssrn.4219080

Bege Dauda

University of Pennsylvania ( email )

Santiago J. Molina

University of California, Berkeley ( email )

310 Barrows Hall
Berkeley, CA 94720
United States

Danielle Allen

University of Chicago - Department of Political Science ( email )

Chicago, IL 60637
United States

Agustin Fuentes

University of Notre Dame ( email )

361 Mendoza College of Business
Notre Dame, IN 46556-5646
United States

Nayanika Ghosh

Harvard University - Department of the History of Science ( email )

Madelyn Mauro

Harvard University - Edmond J. Safra Center for Ethics ( email )

Benjamin M. Neale

Harvard University - Center for Human Genetic Research

55 Fruit Street Boston
Boston, MA 02114
United States

Aaron Panofsky

University of California, Los Angeles (UCLA) ( email )

405 Hilgard Avenue
Box 951361
Los Angeles, CA 90095
United States

Mashaal Sohail

Universidad Nacional Autónoma de México UNAM ( email )

Sarah Zhang

University of California, Berkeley ( email )

Anna Lewis (Contact Author)

Harvard University - Edmond J. Safra Center for Ethics ( email )

124 Mount Auburn Street
Suite 520N
Cambridge, MA 02138
United States

Independent ( email )

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