Advertisement

Journal of Genetic Counseling

, Volume 23, Issue 4, pp 516–521 | Cite as

An Assessment of Time Involved in Pre-test Case Review and Counseling for a Whole Genome Sequencing Clinical Research Program

  • Janet L. WilliamsEmail author
  • W. Andrew Faucett
  • Bethanny Smith-Packard
  • Monisa Wagner
  • Marc S. Williams
Next Generation Genetic Counseling

Abstract

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.

Keywords

Whole genome sequencing Time study Electronic health record Genetic counseling Intellectual disability 

Notes

Acknowledgments

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.

Supplementary material

10897_2014_9697_MOESM1_ESM.pdf (448 kb)
ESM 1 (PDF 447 kb)

References

  1. Baars, M. J., Henneman, L., & Ten Kate, L. P. (2005). Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genetics in Medicine, 7(9), 605–610.CrossRefGoogle Scholar
  2. Bensend, T. A., Veach, P. M., & Niendorf, K. B. (2013). What’s the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. Journal of Genetic Counseling. Google Scholar
  3. Bick, D., & Dimmock, D. (2011). Whole exome and whole genome sequencing. Current Opinion in Pediatrics, 23(6), 594–600.CrossRefGoogle Scholar
  4. Giardiello, F. M., Brensinger, J. D., Peterson, G. M., Luce, M. C., Hylind, L. M., Bacon, J. S., et al. (1997). The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. New England Journal of Medicine, 336(12), 823–837.CrossRefGoogle Scholar
  5. Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., et al. (2012). Clinical application of exome sequencing in undiagnosed genetic conditions. Journal of Medical Genetics, 49(6), 353–361.CrossRefGoogle Scholar
  6. Plon, S. E., Cooper, H. P., Parks, B., Dhar, S., Kelly, P. A., Weinberg, A. D., et al. (2011). Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genetics in Medicine, 13(2), 148–154.CrossRefGoogle Scholar
  7. Tabor, H. K., Stock, J., Brazg, T., McMillin, M. J., Dent, K. M., Yu, J. H., et al. (2012). Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. American Journal of Medical Genetics Part A, 158A(6), 1310–1319.CrossRefGoogle Scholar
  8. Worthey, E., Bick, D., Dimmick, D., Shimoya, M., Veith, R., Kowalski, G., et al. (2012). Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetic clinic. BMC Proceedings, 6(Suppl 6), 011.CrossRefGoogle Scholar

Copyright information

© The Author(s) 2014

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 2.0 International License (https://doi.org/creativecommons.org/licenses/by/2.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Authors and Affiliations

  • Janet L. Williams
    • 1
    Email author
  • W. Andrew Faucett
    • 1
  • Bethanny Smith-Packard
    • 1
  • Monisa Wagner
    • 1
  • Marc S. Williams
    • 1
  1. 1.Genomic Medicine InstituteGeisinger Health SystemDanvilleUSA

Personalised recommendations