Inferring Genetic Ancestry: Opportunities, Challenges, and Implications

被引:163
作者
Royal, Charmaine D. [1 ]
Novembre, John [2 ]
Fullerton, Stephanie M. [3 ]
Goldstein, David B. [1 ]
Long, Jeffrey C. [4 ]
Bamshad, Michael J. [5 ]
Clark, Andrew G. [6 ]
机构
[1] Duke Univ, Inst Genome Sci & Policy, Durham, NC 27708 USA
[2] Univ Calif Los Angeles, Dept Ecol & Evolutionary Biol, Los Angeles, CA 90095 USA
[3] Univ Washington, Sch Med, Dept Bioeth & Humanities, Seattle, WA 98195 USA
[4] Univ New Mexico, Dept Anthropol, Albuquerque, NM 87131 USA
[5] Univ Washington, Dept Pediat, Seattle, WA 98195 USA
[6] Cornell Univ, Dept Mol Biol & Genet, Ithaca, NY 14853 USA
关键词
AFRICAN-AMERICANS; Y-CHROMOSOME; BIOGEOGRAPHICAL ANCESTRY; EUROPEAN POPULATIONS; BIOMEDICAL-RESEARCH; NATURAL-SELECTION; FORENSIC-SCIENCE; RISK LOCUS; RACE; ADMIXTURE;
D O I
10.1016/j.ajhg.2010.03.011
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both the general and scientific communities. What do we mean by ancestry? How exactly is ancestry measured? How far back can such ancestry be defined and by which genetic tools? How do we validate inferences about ancestry in genetic research? What are the data that demonstrate our ability to do this correctly? What can we say and what can we not say from our research findings and the test results that we generate? This white paper from the American Society of Human Genetics (ASHG) Ancestry and Ancestry Testing Task Force builds upon the 2008 ASHG Ancestry Testing Summary Statement in providing a more in-depth analysis of key scientific and non-scientific aspects of genetic ancestry inference in academia and industry. It culminates with recommendations for advancing the current debate and facilitating the development of scientifically based, ethically sound, and socially attentive guidelines concerning the use of these continually evolving technologies.
引用
收藏
页码:661 / 673
页数:13
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