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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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.
No animal studies were carried out by the authors for this article.
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). https://doi.org/10.1007/s10897-014-9794-4
- Whole exome sequencing
- Incidental finding
- American College of Medical Genetics and Genomics
- Genetic counseling