Guidelines for genetic ancestry inference created through roundtable discussions

Jennifer K Wagner; Joon-Ho Yu; Duana Fullwiley; CeCe Moore; James F Wilson; Michael J Bamshad; Charmaine D Royal; Genetic Ancestry Inference Roundtable Participants

doi:10.1016/j.xhgg.2023.100178

Guidelines for genetic ancestry inference created through roundtable discussions

HGG Adv. 2023 Jan 13;4(2):100178. doi: 10.1016/j.xhgg.2023.100178. eCollection 2023 Apr 13.

Authors

Jennifer K Wagner^{1

2

3

4

5

6}, Joon-Ho Yu^{7

8}, Duana Fullwiley⁹, CeCe Moore¹⁰, James F Wilson¹¹, Michael J Bamshad^{12

13}, Charmaine D Royal¹⁴; Genetic Ancestry Inference Roundtable Participants

Affiliations

¹ School of Engineering Design and Innovation, Pennsylvania State University, University Park, PA 16802, USA.
² Institute for Computational and Data Science, Pennsylvania State University, University Park, PA 16802, USA.
³ Department of Biomedical Engineering, Pennsylvania State University, University Park, PA 16802, USA.
⁴ Rock Ethics Institute, Pennsylvania State University, University Park, PA 16802, USA.
⁵ Penn State Law, University Park, PA 16802, USA.
⁶ Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA 16802, USA.
⁷ Department of Pediatrics and Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.
⁸ Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, Seattle, WA 98101, USA.
⁹ Department of Anthropology, Stanford University, Stanford, CA 94305, USA.
¹⁰ The DNA Detectives, Dana Point, CA, USA.
¹¹ Centre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh EH8 9AG, Scotland.
¹² Department of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
¹³ Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98101, USA.
¹⁴ Departments of African and African American Studies, Biology, Global Health, and Family Medicine and Community Health, Duke University, Durham, NC 27708, USA.

Abstract

The use of genetic and genomic technology to infer ancestry is commonplace in a variety of contexts, particularly in biomedical research and for direct-to-consumer genetic testing. In 2013 and 2015, two roundtables engaged a diverse group of stakeholders toward the development of guidelines for inferring genetic ancestry in academia and industry. This report shares the stakeholder groups' work and provides an analysis of, commentary on, and views from the groundbreaking and sustained dialogue. We describe the engagement processes and the stakeholder groups' resulting statements and proposed guidelines. The guidelines focus on five key areas: application of genetic ancestry inference, assumptions and confidence/laboratory and statistical methods, terminology and population identifiers, impact on individuals and groups, and communication or translation of genetic ancestry inferences. We delineate the terms and limitations of the guidelines and discuss their critical role in advancing the development and implementation of best practices for inferring genetic ancestry and reporting the results. These efforts should inform both governmental regulation and self-regulation.

Keywords: ELSI; genetic ancestry; population descriptors; race and ethnicity.

Guidelines for genetic ancestry inference created through roundtable discussions

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