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Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling


The purpose of this study was to investigate how the American College of Medical Genetics and Genomics (ACMG) March 2013 recommendations for reporting incidental findings (IFs) have influenced current practices of genetic counselors involved in utilizing whole exome sequencing (WES) for clinical diagnosis. An online survey was sent to all members of the National Society of Genetic Counselors; members were eligible to participate if they currently offered WES for clinical diagnosis. Forty-six respondents completed the survey of whom 34 were in practice prior to the March 2013 ACMG recommendations. Half of respondents (N = 19, 54.9 %) in practice prior to March 2013 reported that the ACMG recommendations have had a significant impact on the content of their counseling sessions. Approximately half of respondents (N = 21, 45.5 %) report all IFs, regardless of patient age, while one third (N = 14, 30.4 %) consider factors such as age and parent preference in reporting IFs. Approximately 40 % (N = 18) of respondents reported that the testing laboratory’s policy for returning IFs has an influence on their choice of laboratory; of those, 72.2 % (N = 13) reported that the option to opt out of receiving reports of IFs has a significant influence on their choice of laboratory. A majority of respondents (N = 43, 93.5 %) found that most patients want to receive reports of IFs. However, respondents report there are patients who wish to decline receiving this information. This study querying genetic counselors identified benefits and challenges that the 2013 ACMG recommendations elicited. Some challenges, such as not having the option to opt out of IFs, have been addressed by the ACMG’s most recent updates to their recommendations. Further investigation into larger and more inclusive provider populations as well as patient populations will be valuable for the ongoing discussion surrounding IFs in WES.

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  • American College of Medical Genetics and Genomics. (2013). Incidental findings in clinical genomics: A clarification.

  • American College of Medical Genetics and Genomics. (2014). Member Statement: ACMG updates recommendation on “opt out” for genome sequencing return of results.

  • Ayuso, C., Millan, J. M., Mancheno, M., & Dal-Re, R. (2013). Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential consent and process. European Journal of Human Genetics, 21, 1054–1059.

    Article  PubMed Central  PubMed  Google Scholar 

  • Bollinger, J., Scott, J., Dvoskin, R., & Kaufman, D. (2012). Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study. Genetics in Medicine, 14, 451–457.

    Article  PubMed Central  PubMed  Google Scholar 

  • Burke, W., Antommaria, A. H. M., Bennett, R., Botkin, J., Clayton, E. W., Henderson, G. E., Holm, I. A., et al. (2013). Recommendations for returning genomic incidental findings? We need to talk! Genetics in Medicine. doi:10.1038/gim.2013.113.

    Google Scholar 

  • Green, R. C., Berg, J. S., Berry, G. T., Biesecker, L. G., Dimmock, D. P., Evans, J. P., et al. (2012). Exploring concordance and discordance for return on incidental findings from clinical sequencing. Genetics in Medicine, 14, 405–410.

  • Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., et al. (2013a). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15, 565–574.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Green, R. C., Lupski, J. R., & Biesecker, L. G. (2013b). Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA, 310, 365–366.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Grove, M.E., Wolpert, M.N., Cho, M.K., Lee, S.S-J. & Ormond, K.E. (2014). Views of genetics professionals on the return of genomic results. Journal of Genetic Counseling, 23, 531-538.

  • Hufnagel, S. B., & Antommaria, A. H. (2014). Laboratory policies on reporting secondary findings in clinical whole exome sequencing: initial uptake of the ACMG’s recommendations. American Journal of Medical Genetics, 164A, 1328–1331.

    Article  PubMed  Google Scholar 

  • Klitzman, R., Appelbaum, P. S., & Chung, W. (2013). Return of secondary genomic findings vs patient autonomy: implications for medical care. JAMA, 4, 369–370.

    Article  Google Scholar 

  • National Society of Genetic Counselors. (2006). NSGC Code of Ethics. Adopted 1/92 by the National Society of Genetic Counselors, Inc.; Revised 12/04, 1/06.

  • National Society of Genetic Counselors. (2013) Media Statement: NSGC Responds to “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing” (March 2013).

  • Ormond, K. E., Wheeler, M. T., Hudgins, L., Klein, T. E., Butte, A. J., Altman, R. B., et al. (2010). Challenges in the clinical application of whole-genome sequencing. Lancet, 375, 1749–1751.

  • Ritger, T., van Aart, C. J. A., Elting, M. W., Waisfisz, Q., Cornel, M. C., & Henneman, L. (2014). Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients. Clinical Genetics, 85, 417–422.

    Article  Google Scholar 

  • Ross, L. F., Saal, H. M., David, K. L., Anderson, R. R., & American Academy of Pediatrics; American College of Medical Genetics and Genomics. (2013). Technical report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, 15, 234–245.

    Article  PubMed  Google Scholar 

  • Shahmirzadi, L., Chao, E. C., Palmaer, E., Parra, M. C., Tang, S., & Farwell Gonzalez, K. D. (2014). Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing. Genetics in Medicine, 16, 395–399.

    Article  PubMed Central  PubMed  Google Scholar 

  • Spatz, E. S., & Spertus, J. A. (2012). Shared decision making: a path toward improved patient-centered outcome. Circulation. Cardiovascular Quality and Outcomes, 5, 664–666.

    Article  Google Scholar 

  • Vayena, E., & Tasioulas, J. (2013). Genetic incidental findings: autonomy regained? Genetics in Medicine, 15, 868–870.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Wilson, J. (2005). To know or not to know? Genetic ignorance, autonomy, and paternalism. Bioethics, 19, 492–504.

    Article  PubMed  Google Scholar 

  • Yu, J.-H., Harrell, T. M., Jamal, S. M., Tabor, H. K., & Bamshad, M. J. (2014). Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. American Journal of Human Genetics, 95, 77–84.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

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Funding for this project was provided by the Brandeis University Graduate School of Arts and Sciences. We would like to thank Elizabeth Cross, PhD and Ted Cross, PhD for their assistance in the use of SPSS software and data analysis.


This study was completed for partial fulfillment for a Master of Science degree at Brandeis University for author LS. Alicia Braxton, MS, CGC is employed by Baylor College of Medicine Medical Genetics Testing Laboratory, a diagnostic laboratory that offers and derives revenue from clinical WES testing. Authors LS, JD and KK declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all participants for being included in the study.

Animal Studies

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

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Correspondence to Lacey A. Smith.

Additional information

Jessica Douglas and Alicia A. Braxton contributed equally to this work.

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Smith, L.A., Douglas, J., Braxton, A.A. et al. Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling. J Genet Counsel 24, 654–662 (2015).

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  • Whole exome sequencing
  • Incidental finding
  • American College of Medical Genetics and Genomics
  • Genetic counseling
  • Autonomy