An Assessment of Time Involved in Pre-test Case Review and Counseling for a Whole Genome Sequencing Clinical Research Program
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Whole genome sequencing (WGS) is being used for evaluation of individuals with undiagnosed disease of suspected genetic origin. Implementing WGS into clinical practice will place an increased burden upon care teams with regard to pre-test patient education and counseling about results. To quantitate the time needed for appropriate pre-test evaluation of participants in WGS testing, we documented the time spent by our clinical research group on various activities related to program preparation, participant screening, and consent prior to WGS. Participants were children or young adults with autism, intellectual or developmental disability, and/or congenital anomalies, who have remained undiagnosed despite previous evaluation, and their biologic parents. Results showed that significant time was spent in securing allocation of clinical research space to counsel participants and families, and in acquisition and review of participant’s medical records. Pre-enrollment chart review identified two individuals with existing diagnoses resulting in savings of $30,000 for the genome sequencing alone, as well as saving hours of personnel time for genome interpretation and communication of WGS results. New WGS programs should plan for costs associated with additional pre-test administrative planning and patient evaluation time that will be required to provide high quality care.
KeywordsWhole genome sequencing Time study Electronic health record Genetic counseling Intellectual disability
This work was funded with internal Geisinger Health System research funding for the IRB approved program “Whole Genome Sequencing for Undiagnosed Children.” We are grateful for the vision articulated by David Ledbetter, W. Andrew Faucett, and Judith Argon in challenging the leadership to fund exploratory use of WGS. We would like to thank the genome workgroup and the program oversight committee for their invaluable contribution. We would like to thank Sandy M. Field for her editorial assistance in the preparation of this manuscript. We are particularly grateful to the study participants who agreed to embark on this journey into the use of whole genome sequencing in undiagnosed children.
Conflict of Interest
The authors have no conflicts of interest to disclose and are in full control of all primary data from this study.
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