Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization



Clinical laboratories performing exome or genome sequencing (ES/GS) are familiar with the challenges associated with proper consenting for and reporting of medically actionable secondary findings based on recommendations from the American College of Medical Genetics and Genomics (ACMG). Misattributed parentage is another type of unanticipated finding a laboratory may encounter during family-based ES/GS; however, there are currently no professional recommendations related to the proper consenting for and reporting of misattributed parentage encountered during ES/GS.


We surveyed 10 clinical laboratories offering family-based ES/GS regarding their consent language, discovery, and reporting of misattributed parentage.


Many laboratories have already developed their own practices/policies for these issues, which do not necessarily agree with those from other labs.


There are several other possibilities besides true misattributed parentage that could result in similar laboratory findings, and laboratories often feel they lack sufficient information to make formal conclusions on a report regarding the true genetic relatedness of the submitted samples. However, understanding the genetic relatedness (or lack thereof) of the samples submitted for family-based ES/GS has medical relevance. Therefore, professional recommendations for the appropriate handling of suspected misattributed parentage encountered during ES/GS are needed to help standardize current clinical laboratory practices.

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  1. 1.

    Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565–574.

  2. 2.

    Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–255.

  3. 3.

    Rehder CW, David KL, Hirsch B, Toriello HV, Wilson CM, Kearney HM. Response to Rosenberg et al. Genet Med. 2013;15:754.

  4. 4.

    Rehder CW, David KL, Hirsch B, Toriello HV, Wilson CM, Kearney HM. American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. Genet Med. 2013;15:150–152.

  5. 5.

    Protection of human subjects; reports of the President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research--Office of the Assistant Secretary for Health, HHS. Notice of availability of reports. Fed Regist. 1983;48:34408–12.

  6. 6.

    Institute of Medicine Committee on Assessing Genetic Risks. In: Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG, eds. The National Academies collection: reports funded by National Institutes of Health. Chapter 2: Genetic Testing and Assessment Washington, DC: National Academies Press; 1994:59–115.

  7. 7.

    Lohn Z, Adam S, Birch P, Townsend A, Friedman J. Genetics professionals’ perspectives on reporting incidental findings from clinical genome-wide sequencing. Am J Med Genet A. 2013;161A:542–549.

  8. 8.

    Botkin JR, Belmont JW, Berg JS, et al. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 2015;97:6–21.

  9. 9.

    ACMG Board of Directors. Points to consider for informed consent for genome/exome sequencing. Genet Med. 2013;15:748–749.

  10. 10.

    Bergner AL, Bollinger J, Raraigh KS, et al. Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings. Am J Med Genet A. 2014;164A:2745–2752.

  11. 11.

    Niemiec E, Vears DF, Borry P, Howard HC. Readability of informed consent forms for whole-exome and whole-genome sequencing. J Community Genet. 2018;9:143–151.

  12. 12.

    Fowler SA, Saunders CJ, Hoffman MA. Variation among consent forms for clinical whole exome sequencing. J Genet Couns. 2018;27:104–114.

  13. 13.

    Hehir-Kwa JY, Claustres M, Hastings RJ, et al. Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur J Hum Genet. 2015;23:1601–1606.

  14. 14.

    Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–424.

  15. 15.

    Budowle B, Moretti TR, Baumstark AL, Defenbaugh DA, Keys KM. Population data on the thirteen CODIS core short tandem repeat loci in African Americans, U.S. Caucasians, Hispanics, Bahamians, Jamaicans, and Trinidadians. J Forensic Sci. 1999;44:1277–1286.

  16. 16.

    Weber-Lehmann J, Schilling E, Gradl G, Richter DC, Wiehler J, Rolf B. Finding the needle in the haystack: differentiating “identical” twins in paternity testing and forensics by ultra-deep next generation sequencing. Forensic Sci Int Genet. 2014;9:42–46.

  17. 17.

    Morling N, Allen R, Carracedo A, et al. Paternity Testing Commission of the International Society of Forensic Genetics. Recommendations on genetic investigations in paternity cases. Int J Leg Med. 2003;117:51–61.

  18. 18.

    Moray N, Pink KE, Borry P, Larmuseau MH. Paternity testing under the cloak of recreational genetics. Eur J Hum Genet. 2017;25:768–770.

  19. 19.

    Kirkpatrick BE, Rashkin MD. Ancestry testing and the practice of genetic counseling. J Genet Couns. 2017;26:6–20.

  20. 20.

    Tandy-Connor S, Guiltinan J, Krempely K, et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med 2018 Mar 22; https://doi.org/10.1038/gim.2018.38. [Epub ahead of print].

  21. 21.

    Ross LF, Saal HM, David KL, Anderson RR, American Academy of Pediatrics, American College of Medical Genetics and Genomics. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013;15:234–245.

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Correspondence to Joshua L. Deignan PhD, FACMG.

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All authors are clinical service providers and are employed by laboratories that offer fee-based clinical sequencing. This employment is noted in the author affiliations. The authors declare no additional conflicts of interest beyond their employment affiliation.

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  • exome
  • genome
  • sequencing
  • parentage
  • ethics

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