Abstract
As newborn screening (NBS) technology expands, genetic counselors will become more involved in counseling for NBS results, including those potentially generated from whole exome sequencing (WES) and eventually whole genome sequencing (WGS). Members of the National Society of Genetic Counselors (NSGC) responded to an online survey (n = 208) regarding genomic counseling in the context of NBS. The majority of participants (82.1 %) did not feel prepared to counsel for WGS results from NBS. Counselors with previous WES/WGS counseling experience felt more prepared (p = 0.005) to counsel for WGS results from NBS than those without WES/WGS experience. Overall, counselors expressed ethical and practical concerns regarding WGS in NBS, as well as a need for additional training regarding this application of the technology before it is implemented. Based on the results of this study, genetic counselors voice caution to the larger genetics community regarding expansion of NBS to incorporate genomic sequencing and advocate for additional education prior to initiating WGS into NBS.
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Acknowledgments
The authors would like to thank Laura Danosky Yoder, MPH for her support for the statistical analysis of our data. We would also like to thank Anna Mitchell, MD, PhD, Carol Crowe, MD and Beth Tarini, MD for their expertise and help in reviewing the instrument for this study.
Funding
Funding for this study came from the Department of Genetics and Genome Sciences at Case Western Reserve University, Cleveland OH.
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. Informed consent was obtained from all participants for being included in the study.
Conflict of Interest
Monica Nardini declares that she has no conflict of interest.
Anne Matthews declares that she has no conflict of interest.
Shawn McCandless declares that he has no conflict of interest.
Larisa Baumanis declares that she has no conflict of interest.
Aaron Goldenberg declares that he has no conflict of interest.
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Nardini, M.D., Matthews, A.L., McCandless, S.E. et al. Genomic Counseling in the Newborn Period: Experiences and Views of Genetic Counselors. J Genet Counsel 23, 506–515 (2014). https://doi.org/10.1007/s10897-014-9706-7
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DOI: https://doi.org/10.1007/s10897-014-9706-7