Ancestry Testing and the Practice of Genetic Counseling

Abstract

Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer’s ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically. Roles of the genetic counselor may include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with testing. This paper reviews the history, fundamentals, intended uses, and unintended consequences of ancestry genetic testing. It also discusses the types of information in an ancestry testing result, situations that might involve a clinical genetic counselor, and the benefits, limitations, and functions that ancestry genetic testing can play in a clinical genetics setting.

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Notes

  1. 1.

    Source: http://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart

  2. 2.

    This list does not include the Genographic Project, which provides testing for biogeographical analysis without a DNA relative-finding feature, an online community/network, or access to raw data.

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Correspondence to Brianne E. Kirkpatrick.

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Author Brianne Kirkpatrick is founder and owner of WatershedDNA, LLC a company which provides consultations on ancestry testing and raw data.

Author Misha Rashkin declares no conflict of interest.

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No human studies were carried out by the authors for this article.

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Kirkpatrick, B.E., Rashkin, M.D. Ancestry Testing and the Practice of Genetic Counseling. J Genet Counsel 26, 6–20 (2017). https://doi.org/10.1007/s10897-016-0014-2

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Keywords

  • Ancestry
  • Direct to consumer
  • Genetic counseling
  • Personal genomics
  • Third-party tool
  • Databases