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Ancestry Testing and the Practice of Genetic Counseling


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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  1. Source:

  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.


  • 23andMe. (2014). 23andMe Personal Genome Service® (PGS) Performance Characteristics Summary Sheet. (access date: 3.9.16).

  • 23andYou. (2016). Tools for Everyone. (access date: 9.21.16).

  • American College of Obstetricians and Gynecologists (2016). Direct-to-consumer marketing of genetic testing. ACOG Committee Opinion No. 409. Obstet Gynecol 2008, 111, 1493–1494.

  • Armel, S. R., McCuaig, J., Gojska, N., Demsky, R., Maganti, M., Murphy, J., & Rosen, B. (2015). All in the family: barriers and motivators to the use of cancer family history questionnaires and the impact on attendance rates. Journal of Genetic Counseling, 24(5), 822–832.

  • Association for Molecular Pathology (AMP) (2015). Position Statement: direct access genetic testing (direct to consumer Genetic Testing) - February 2015. (access date: 3.9.16).

  • Aulicino, E. D. (2013). Genetic genealogy: The basics and beyond. Bloomington, Indiana: AuthorHouse.

  • Baird, J. L., Heinig, J., Davis, D, Sheets, K., Kirkpatrick, B., Starr, D. B. (2015). Chimeric germline tissue: Alleged father’s genetic contribution to child found in semen sample but not in buccal sample [abstract]. In: Twenty-sixth International Symposium on Human Identification (Grapevine, Texas).

  • Ball, C. A., et al. (2013). Ethnicity Estimate White Paper. (access date: 3.9.16).

  • Baptista, N. M., Christensen, K. D., Carere, D. A., Broadley, S. A., Roberts, J. S., & Green, R. C. (2016). Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees. Genetics in Medicine, 18(9), 924–932.

  • Bedard, J. (2015). My birth story (a story involving adoption, and DNA research). In John’s Genealogy Blog. (access date: 6.21.16).

  • Ben Halim, N., Nagara, M., Regnault, B., Hsouna, S., Lasram, K., Kefi, R., Azaiez, H., Khemira, L., Saidane, R., Ammar, S. B., et al. (2005). Estimation of recent and ancient inbreeding in a small endogamous Tunisian community through genomic runs of homozygosity. Annals of Human Genetics, 79, 402–417.

    Article  Google Scholar 

  • Bernhardt, B. A., Biesecker, B. B., & Mastromarino, C. L. (2000). Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. American Journal of Medical Genetics, 94, 189–197.

  • Bittles, A. H., & Black, M. L. (2010). Evolution in health and medicine Sackler colloquium: consanguinity, human evolution, and complex diseases. Proceedings of the National Academy of Sciences of the United States of America, 107(Suppl 1), 1779–1786.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  • Bohannon, J. (2013). Genetics. Genealogy databases enable naming of anonymous DNA donors. Science, 339, 262.

    CAS  Article  PubMed  Google Scholar 

  • Brown, R., & Pasaniuc, B. (2014). Enhanced methods for local ancestry assignment in sequenced admixed individuals. PLoS Computational Biology, 10, e1003555.

    Article  PubMed  PubMed Central  Google Scholar 

  • Cannon-Albright, L. A., Dintelman, S., Maness, T., Backus, S., Thomas, A., & Meyer, L. J. (2013). Creation of a national resource with linked genealogy and phenotypic data: the veterans genealogy project. Genetics in Medicine, 15, 541–547.

    Article  PubMed  Google Scholar 

  • Carbone, M., Flores, E. G., Emi, M., Johnson, T. A., Tsunoda, T., Behner, D., et al. (2015). Combined genetic and genealogic studies uncover a large BAP1 cancer syndrome kindred tracing back nine generations to a common ancestor from the 1700s. PLoS Genetics, 11, e1005633.

  • Ceballos, F. C., & Alvarez, G. (2013). Royal dynasties as human inbreeding laboratories: the Habsburgs. Heredity (Edinb), 111, 114–121.

    CAS  Article  Google Scholar 

  • Corpas, M. A. (2012). Family experience of personal genomics. Journal of Genetic Counseling, 21(3), 386–391.

  • National Society of Genetic Counselors (NSGC) (2015a). Direct Access to Genetic Testing.

  • National Society of Genetic Counselors (NSGC) (2015b). Family Health History.

  • Davey, A., Rostant, K., Harrop, K., Goldblatt, J., & O’Leary, P. (2005). Evaluating genetic counseling: client expectations, psychological adjustment and satisfaction with service. Journal of Genetic Counseling, 14(3), 197–206.

  • Daya, M., van der Merwe, L., Galal, U., Moller, M., Salie, M., Chimusa, E. R., Galanter, J. M., van Helden, P. D., Henn, B. M., Gignoux, C. R., et al. (2013). A panel of ancestry informative markers for the complex five-way admixed South African coloured population. PloS One, 8, e82224.

    Article  PubMed  PubMed Central  Google Scholar 

  • Destro-Bisol, G., Jobling, M. A., Rocha, J., Novembre, J., Richards, M. B., Mulligan, C., Batini, C., & Manni, F. (2010). Molecular anthropology in the genomic era. Journal of Anthropological Sciences, 88, 93–112.

    PubMed  Google Scholar 

  • DNA Diagnostics Center. (2016). History of DNA Testing.

  • Dohany, L., Gustafson, S., Ducaine, W., & Zakalik, D. (2012). Psychological distress with direct-to-consumer genetic testing: a case report of an unexpected BRCA positive test result. Journal of Genetic Counseling, 21(3), 399–401.

  • Farnham, I. (2012). Who’s your daddy? Genealogy Becomes $1.6B Hobby. (access date: 4.20.16).

  • Francke, U., Dijamco, C., Kiefer, A. K., Eriksson, N., Moiseff, B., Tung, J. Y., & Mountain, J. L. (2014). Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing. PeerJ, 1, e8.

    Article  Google Scholar 

  • Genetic Genie (2016). (access date: 6.1.16).

  • Gutmann, A., & Wagner, J. W. (2013). Found your DNA on the web: reconciling privacy and progress. The Hastings Center Report, 43, 15–18.

    Article  PubMed  Google Scholar 

  • Gymrek, M., McGuire, A. L., Golan, D., Halperin, E., & Erlich, Y. (2013). Identifying personal genomes by surname inference. Science, 339, 321–324.

    CAS  Article  PubMed  Google Scholar 

  • Halim-Fikri, H., Etemad, A., Abdul Latif, A. Z., Merican, A. F., Baig, A. A., Annuar, A. A., Ismail, E., Salahshourifar, I., Liza-Sharmini, A. T., Ramli, M., et al. (2015). The first Malay database toward the ethnic-specific target molecular variation. BMC Research Notes, 8, 176.

    Article  PubMed  PubMed Central  Google Scholar 

  • Harris, A., Kelly, S. E., & Wyatt, S. (2013). Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market. Journal of Genetic Counseling, 22(2), 277–288.

  • Hawkins, A. K., & Ho, A. (2012). Genetic counseling and the ethical issues around direct to consumer genetic testing. Journal of Genetic Counseling, 21(3), 367–373.

  • Hercher, L. & Jamal, L. (2016). An old problem in a new age: revisiting the clinical dilemma of misattributed paternity. Applied Translational Genomics, 8, 36–39.

  • Hock, K. T., Christensen, K. D., Yashar, B. M., Roberts, J. S., Gollust, S. E., & Uhlmann, W. R. (2011). Direct-to-consumer genetic testing: an assessment of genetic counselors’ knowledge and beliefs. Genetics in Medicine, 13, 325–332.

    Article  PubMed  PubMed Central  Google Scholar 

  • International Society of Genetic Genealogy Wiki. (2016). Autosomal DNA Testing Comparison Charst. (access date: 3.9.16).

  • Interpretome. (2016). (access date: 3.9.16).

  • ISOGG (2016). Genealogy. (access date: 6.21.16).

  • Jackson, M. W. (2014). The biology of race: searching for no overlap. Perspectives in Biology and Medicine, 57, 87–104.

    Article  PubMed  Google Scholar 

  • Kennett, D. (2015). What is the Current Size of the Consumer Genomics Market? In Cruwys News. (access date: 1.20.16).

  • Khan, R. & Rui, H. (2014). My origins methodology whitepaper. In the family tree dna learning center beta. (Family Tree DNA: Houston, TX).

  • Khoury, M. (2016). Direct-to-Consumer Genetic Testing and Public Health Education. Office of Public Health Genomics, Centers for Disease Control and Prevention. (access date: 3.15.16.).

  • King, T. E., Bosch, E., Adams, S. M., Parkin, E. J., Rosser, Z. H., & Jobling, M. A. (2005). Inadvertent diagnosis of male infertility through genealogical DNA testing. Journal of Medical Genetics, 42, 366–368.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  • Kirkpatrick, B., Balkite, E., & Powell, E. S. (2015). DTC ancestry testing: Gateway to genetics education of the lay public and an emerging professional role for genetic counselors. National Society of Genetic Counselors Annual Education Conference (Pittsburgh, Pennsylvania).

  • Kumagai, S., & Uyenoyama, M. K. (2015). Genealogical histories in structured populations. Theoretical Population Biology, 102, 3–15.

    Article  PubMed  PubMed Central  Google Scholar 

  • Larmuseau, M. H., Van Geystelen, A., van Oven, M., & Decorte, R. (2013). Genetic genealogy comes of age: perspectives on the use of deep-rooted pedigrees in human population genetics. American Journal of Physical Anthropology, 150, 505–511.

    CAS  Article  PubMed  Google Scholar 

  • Levin, E., Riordan, S., Klein, J., & Kieran, S. (2012). Genetic counseling for personal genomic testing: optimizing client uptake of post-test telephonic counseling services. Journal of Genetic Counseling, 21(3), 462–468.

  • LiveWello. (2016). (access date: 6.1.16).

  • Ma, J., & Amos, C. I. (2012). Principal components analysis of population admixture. PloS One, 7, e40115.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  • McGuire, A. L., & Majumder, M. A. (2009). Two cheers for GINA? Genome Medicine, 1, 6.

    Article  PubMed  PubMed Central  Google Scholar 

  • McGuire, A. L., Evans, B. J., Caulfield, T., & Burke, W. (2010). Science and regulation. Regulating direct-to-consumer personal genome testing. Science, 330, 181–182.

    CAS  Article  PubMed  Google Scholar 

  • Meisel, S. F., Carere, D. A., Wardle, J., Kalia, S. S., Moreno, T. A., Mountain, J. L., Roberts, J. S., & Green, R. C. (2015). Explaining, not just predicting, drives interest in personal genomics. Genome Medicine, 7, 74.

    Article  PubMed  PubMed Central  Google Scholar 

  • Mezher, M. (2015). FDA warns Three Companies Over DTC Genetic Tests. In Regulatory Affairs Professional Society. (access date: 1.15.16).

  • Michael Cole v. Gene by Gene Ltd. (2016). Court case filed in United States District Court of Alaska, State of Alaska.

  • Middleton, A. (2012). Communication about DTC testing: commentary on a ‘family experience of personal genomics. Journal of Genetic Counseling, 21(3), 392–398.

  • Moore, C. (2014). What GCs need to know: Basics of DNA ancestry and genetic genealogy testing. In Webinar for National Society of Genetic Counselors. (NSGC: Chicago, IL). (access date: 1.6.16).

  • mtDNA Community. (2016). (access date: 6.1.16).

  • National Society of Genetic Counselors (2015a). Direct Access to Genetic Testing. (access date: 6.15.16).

  • National Society of Genetic Counselors (2015b). Family Health History. (access date: 10.15.16).

  • NCBI. GenBank Overview. (2016). (access date: 6.1.16).

  • Norton, P. A., Allen-Brady, K., & Cannon-Albright, L. A. (2013). The familiality of pelvic organ prolapse in the Utah population database. International Urogynecology Journal, 24, 413–418.

    Article  PubMed  Google Scholar 

  • O’Daniel, J. M. (2010). The prospect of genome-guided preventive medicine: a need and opportunity for genetic counselors. Journal of Genetic Counseling, 19(4), 315–327.

  • Predham, S., Hamilton, S., Elliott, A. M., & Gibson, W. T. (2016). Case report: direct Access genetic testing and a false-positive result for long QT syndrome. Journal of Genetic Counseling, 25(1), 25–31.

  • Rabideau, M. M., Wong, K., Gordon, E. S., & Ryan, L. (2016). Genetic counselors in startup companies: redefining the genetic counselor role. Journal of Genetic Counseling, 25(4), 649–657.

  • Ralph, P., & Coop, G. (2013). The geography of recent genetic ancestry across Europe. PLoS Biology, 11, e1001555.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  • Rehder, C. W., David, K. L., Hirsch, B., Toriello, H. V., Wilson, C. M., & Kearney, H. M. (2013). American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. Genetics in Medicine, 15, 150–152.

    Article  PubMed  Google Scholar 

  • Roberts, M. E., Riegert-Johnson, D. L., & Thomas, B. C. (2011). Self diagnosis of Lynch Syndrome using Direct to Consumer Genetic Testing: a Case Study. Journal of Genetic Counseling, 20, 327–329.

  • Royal, C. D., Novembre, J., Fullerton, S. M., Goldstein, D. B., Long, J. C., Bamshad, M. J., & Clark, A. G. (2010). Inferring genetic ancestry: opportunities, challenges, and implications. American Journal of Human Genetics, 86, 661–673.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  • Scholand, M. B., Coon, H., Wolff, R., & Cannon-Albright, L. (2013). Use of a genealogical database demonstrates heritability of pulmonary fibrosis. Lung, 191, 475–481.

    CAS  Article  PubMed  Google Scholar 

  • Shriner, D., Tekola-Ayele, F., Adeyemo, A., & Rotimi, C. N. (2014). Genome-wide genotype and sequence-based reconstruction of the 140,000 year history of modern human ancestry. Scientific Reports, 4, 6055.

    Article  PubMed  PubMed Central  Google Scholar 

  • Singleton, A., Erby, L. H., Foisie, K. V., & Kaphingst, K. A. (2012). Informed choice in direct-to-consumer genetic testing (DTCGT) websites: a content analysis of benefits, risks, and limitations. Journal of Genetic Counseling, 21(3), 433–439.

  • SNPedia. (2016a). Testing. In SNPedia.

  • SNPedia. (2016b). Promethease. (access date: 9:21.16).

  • Stefansdottir, V., Johannsson, O. T., Skirton, H., Tryggvadottir, L., Tulinius, H., & Jonsson, J. J. (2013). The use of genealogy databases for risk assessment in genetic health service: a systematic review. Journal of Community Genetics, 4, 1–7.

    Article  PubMed  Google Scholar 

  • Sturm, A. C., & Manickam, K. (2012). Direct-to-consumer personal genomic testing: a case study and practical recommendations for “genomic counseling”. Journal of Genetic Counseling, 21, 402–412.

    Article  PubMed  Google Scholar 

  • Ten Kate, L. P., Al-Gazali, L., Anand, S., Bittles, A., Cassiman, J. J., Christianson, A., Cornel, M. C., Hamamy, H., Kaariainen, H., Kristoffersson, U., et al. (2010). Community genetics. Its definition 2010. Journal of Community Genetics, 1, 19–22.

    Article  PubMed  PubMed Central  Google Scholar 

  • Tofanelli, S., Taglioli, L., Bertoncini, S., Francalacci, P., Klyosov, A., & Pagani, L. (2014). Mitochondrial and Y chromosome haplotype motifs as diagnostic markers of Jewish ancestry: a reconsideration. Frontiers in Genetics, 5, 384.

    Article  PubMed  PubMed Central  Google Scholar 

  • Uhlmann, W. R., & Sharp, R. R. (2012). Genetic testing integration panels (GTIPs): a novel approach for considering integration of direct-to-consumer and other new genetic tests into patient care. Journal of Genetic Counseling, 21, 374–381.

    Article  PubMed  PubMed Central  Google Scholar 

  • van Oven, M., Van Geystelen, A., Kayser, M., Decorte, R., & Larmuseau, M. H. (2014). Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome. Human Mutation, 35, 187–191.

    Article  PubMed  Google Scholar 

  • Wang, C. C., & Li, H. (2013). Inferring human history in East Asia from Y chromosomes. Investigative Genetics, 4, 11.

    Article  PubMed  PubMed Central  Google Scholar 

  • Weaver, M., & Pollin, T. I. (2012). Direct-to-consumer genetic testing: what are we talking about? Journal of Genetic Counseling, 21, 361–366.

    Article  PubMed  Google Scholar 

  • ISOGG. (2016). Genealogy.

  • Wikipedia editors, online open access encyclopedia. (2016). In International Society of Genetic Genealogy. (access date: 3.9.16).

  • Xu, H., Wang, C. C., Shrestha, R., Wang, L. X., Zhang, M., He, Y., Kidd, J. R., Kidd, K. K., Jin, L., & Li, H. (2015). Inferring population structure and demographic history using Y-STR data from worldwide populations. Molecular Genetics and Genomics, 290, 141–150.

    CAS  Article  PubMed  Google Scholar 

  • Zaitlen, N., Kraft, P., Patterson, N., Pasaniuc, B., Bhatia, G., Pollack, S., & Price, A. L. (2013). Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits. PLoS Genetics, 9, e1003520.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  • Zhang, X., Qi, X., Yang, Z., Serey, B., Sovannary, T., Bunnath, L., Seang Aun, H., Samnom, H., Zhang, H., Lin, Q., et al. (2013). Analysis of mitochondrial genome diversity identifies new and ancient maternal lineages in Cambodian aborigines. Nature Communications, 4, 2599.

    PubMed  Google Scholar 

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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).

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