@article{f6a6d23dd96e4bb69ab5bf59ade044de,
title = "Guidelines for genetic ancestry inference created through roundtable discussions",
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{\textquoteright} 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{\textquoteright} 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",
author = "Wagner, {Jennifer K.} and Joon-ho Yu and Duana Fullwiley and Cece Moore and Wilson, {James F.} and Bamshad, {Michael J.} and Royal, {Charmaine D.}",
note = "Funding Information: We thank Misha Angrist, Beth Balkite, Melissa Creary, William Darity, Patricia Furnish, Jayne Ifekwunigwe, Erich Jarvis, Sara Katsanis, Paul Magwene, Michael Williams, and Chantelle Wolpert for their intellectual contributions to the development of the guidelines. We are also grateful to members of the ASHG Professional Practice & Social Implications Committee (formerly known as the ASHG Social Issues Committee) and our anonymous reviewers for their constructive feedback on earlier drafts of the report. The Genetic Ancestry Inference Roundtables were supported by National Human Genome Research Institute/National Institutes of Health grants to the American Society of Human Genetics and CDR (grant #R13HG006823 and grant #R01HG006295, respectively) and by Duke University. J.K.W.{\textquoteright}s contribution to this report was supported in part by grant #5R00HG006446 and J.-H.Y.{\textquoteright}s contribution was supported in part by grant #5R00HG007076 from the National Human Genome Research Institute. The content of this report is solely the authors{\textquoteright} responsibility and does not necessarily reflect the official views of the American Society of Human Genetics, the National Human Genome Research Institute/National Institutes of Health, or any other institution or organization with which the authors are affiliated. Four authors (J.K.W. J.-H.Y. M.J.B. and C.D.R.) are editors for Human Genetics and Genomics Advances, and two authors (M.J.B. and C.D.R.) are members of the NASEM ad hoc committee on the “Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research.” C.C.M. serves as Chief Genetic Genealogist for Parabon NanoLabs, Inc. and as Lead Genetic Genealogist for the PBS TV series Finding Your Roots. Funding Information: We thank Misha Angrist, Beth Balkite, Melissa Creary, William Darity, Patricia Furnish, Jayne Ifekwunigwe, Erich Jarvis, Sara Katsanis, Paul Magwene, Michael Williams, and Chantelle Wolpert for their intellectual contributions to the development of the guidelines. We are also grateful to members of the ASHG Professional Practice & Social Implications Committee (formerly known as the ASHG Social Issues Committee) and our anonymous reviewers for their constructive feedback on earlier drafts of the report. The Genetic Ancestry Inference Roundtables were supported by National Human Genome Research Institute / National Institutes of Health grants to the American Society of Human Genetics and CDR (grant # R13HG006823 and grant # R01HG006295 , respectively) and by Duke University . J.K.W.{\textquoteright}s contribution to this report was supported in part by grant # 5R00HG006446 and J.-H.Y.{\textquoteright}s contribution was supported in part by grant # 5R00HG007076 from the National Human Genome Research Institute . The content of this report is solely the authors{\textquoteright} responsibility and does not necessarily reflect the official views of the American Society of Human Genetics, the National Human Genome Research Institute/National Institutes of Health, or any other institution or organization with which the authors are affiliated. Publisher Copyright: {\textcopyright} 2023 The Author(s)",
year = "2023",
month = apr,
day = "13",
doi = "10.1016/j.xhgg.2023.100178",
language = "English",
volume = "4",
pages = "100178",
journal = "Human Genetics and Genomics Advances",
issn = "2666-2477",
publisher = "Cell Press",
number = "2",
}