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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Inferring genetic ancestry: opportunities, challenges, and implications.
Charmaine D Royal1, John Novembre, Stephanie M Fullerton
1Institute for Genome Sciences & Policy, Duke University, Durham, NC 27708, USA. charmaine.royal@duke.edu
American Journal of Human Genetics
|May 15, 2010
Summary
Direct-to-consumer genetic ancestry testing raises concerns about scientific validity and societal impact. This paper clarifies genetic ancestry concepts and provides recommendations for ethical, scientifically sound guidelines.
Area of Science:
- Human Genetics
- Population Genetics
- Bioethics
Background:
- Growing public interest in direct-to-consumer (DTC) genetic ancestry testing.
- Concerns regarding the scientific validity and societal implications of ancestry inference.
- Misunderstandings surrounding the concept and measurement of genetic ancestry.
Purpose of the Study:
- Provide an in-depth analysis of genetic ancestry inference.
- Address scientific and non-scientific aspects of ancestry testing.
- Offer recommendations for scientifically based, ethical, and socially attentive guidelines.
Main Methods:
- Review of scientific literature and current practices in genetic ancestry inference.
- Analysis of the definition, measurement, and validation of genetic ancestry.
- Building upon the 2008 American Society of Human Genetics (ASHG) Ancestry Testing Summary Statement.
Main Results:
- The concept of "ancestry" is complex and subject to misunderstanding.
- Current genetic tools and data have limitations in defining and validating deep ancestry.
- Distinguishing between scientific findings and test result interpretations is crucial.
Conclusions:
- Recommendations for advancing the scientific and ethical discourse on genetic ancestry testing.
- Facilitating the development of guidelines for evolving genetic technologies.
- Promoting scientifically sound, ethically grounded, and socially aware practices in the field.
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