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JAMA Insights
Genomics and Precision Health
February 14, 2020

Genetic Ancestry Testing: What Is It and Why Is It Important?

Author Affiliations
  • 1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City
  • 2Department of Pediatrics, University of Washington, Seattle
JAMA. Published online February 14, 2020. doi:10.1001/jama.2020.0517

Genetic ancestry testing, in which genetic data are used to estimate the geographic origins of a person’s recent ancestors, has grown rapidly in popularity. A recent estimate indicates that more than 26 million people worldwide have undergone genetic ancestry testing by direct-to-consumer (DTC) companies.1 These tests provide information about an individual’s ancestral roots, and they can help to connect people with their relatives, sometimes as distantly related as fourth or fifth cousins. Such information can be particularly useful when a person does not know their genealogical ancestry (eg, many adoptees and the descendants of forced migrants). Increasingly and not without controversy, genetic ancestry testing is being used beyond its original purpose, for example, to help identify or exclude criminal suspects.2 In the clinical setting, persons may share their ancestry test results with their clinician with the expectation that the results will inform health care decisions.

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