Genomic Counseling in the Newborn Period: Experiences and Views of Genetic Counselors
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NEXT GENERATION GENETIC COUNSELING
Genomic Counseling in the Newborn Period: Experiences and Views of Genetic Counselors Monica D. Nardini & Anne L. Matthews & Shawn E. McCandless & Larisa Baumanis & Aaron J. Goldenberg
Received: 19 July 2013 / Accepted: 24 February 2014 # National Society of Genetic Counselors, Inc. 2014
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 M. D. Nardini Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA A. L. Matthews Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA S. E. McCandless Department of Genetics and Genome Sciences, Case Western Reserve University and Center for Human Genetics, Case Western Reserve University, Cleveland, OH, USA L. Baumanis Department of Genetics and Genome Sciences, Case Western Reserve University and Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, OH, USA A. J. Goldenberg (*) Department of Bioethics and Center for Genetic Research Ethics and Law, School of Medicine, TA-212, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106-4976, USA e-mail: [email protected]
incorporate genomic sequencing and advocate for additional education prior to initiating WGS into NBS. Keywords Genomic counseling . Newborn screening . Whole exome sequencing . Whole genome sequencing
Introduction Newborn screening (NBS) is one of the nation’s most successful public health programs. It has been used to detect serious and preventable health problems in the first few days of life in thousands of newborns over the past 50 years. NBS programs have significantly expanded since their inception in the early 1960s, when they only screened for PKU; they now screen for over 30 conditions in most states. The introduction of tandem mass spectrometry in the late 1990s allowed for programs to screen for multiple conditions using a single bloodspot. As NBS has expanded, a number of ethical issues have been raised; the most important issue is whether the benefits of screening outweigh the harms. This issue is especially pertinent as conditions are now in
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