Abstract
The genetic counseling profession continues to expand and respond to the changing landscape of genomic medicine. “Non-traditional” genetic counseling roles have become more commonplace and the transferability of the genetic counselor skill set has been widely acknowledged, particularly in genetic laboratory settings. As these expanding roles continue to mature, all genetic counselors can benefit by learning and adopting clinically relevant skills, such as genomic variant interpretation, which can be applied to direct patient care. These skills can enrich our patients’ understanding of their test results, help ensure quality patient care, and could be useful in positioning genetic counselors as critical members in the medical team as we continue to fully transition into the genomic medicine era.
Similar content being viewed by others
References
Amendola, L. M., Jarvik, G. P., Leo, M. C., McLaughlin, H. M., Akkari, Y., Amaral, M. D., Berg, J. S., Biswas, S., Bowling, K. M., Conlin, L. K., Cooper, G. M., Dorschner, M. O., Dulik, M. C., Ghazani, A. A., Ghosh, R., Green, R. C., Hart, R., Horton, C., Johnston, J. J., Lebo, M. S., Milosavljevic, A., Ou, J., Pak, C. M., Patel, R. Y., Punj, S., Richards, C. S., Salama, J., Strande, N. T., Yang, Y., Plon, S. E., Biesecker, L. G., & Rehm, H. L. (2016). Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. American Journal of Human Genetics, 98(6), 1067–1076.
Bernhardt, B. A., Roche, M. I., Perry, D. L., Scollon, S. R., Tomlinson, A. N., & Skinner, D. (2015). Experiences with obtaining informed consent for genomic sequencing. American Journal of Medical Genetics, 167A(11), 2635–2646.
Bland, A., Harrington, E.A., Dunn, K., Pariani, M., Platt, J.C.K., Grove, M.E., Caleshu C. (2017). Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience. Genetics in Medicine. https://doi.org/10.1038/gim.2017.212.
Christian, S., Lilley, M., Hume, S., Scott, P., & Somerville, M. (2012). Defining the role of laboratory genetic counselor. Journal of Genetic Counseling, 21(4), 605–611.
Everett, J. N., Gustafson, S. L., & Raymond, V. M. (2014). Traditional roles in a non-traditional setting: genetic counseling in precision oncology. Journal of Genetic Counseling, 23(4), 655–660.
Goodenberger, M. L., Thomas, B. C., & Wain, K. E. (2015). The utilization of counseling skills by the laboratory genetic counselor. Journal of Genetic Counseling, 24(1), 6–17.
Harrison, S. M., Riggs, E. R., Maglott, D. R., Lee, J. M., Azzariti, D. R., Niehaus, A., et al. (2016). Using ClinVar as a resource to support variant interpretation. Current Protocols in Human Genetics, 89, 8.16.1–8.16.23. https://doi.org/10.1002/0471142905.hg0816s89.
Harrison, S. M., Dolinsky, J. S., Knight Johnson, A. E., Pesaran, T., Azzariti, D. R., Bale, S., Chao, E. C., Das, S., Vincent, L., & Rehm, H. L. (2017). Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genetics in Medicine, 19, 1096–1104. https://doi.org/10.1038/gim.2017.
Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536, 285–291.
McPherson, E., Zaleski, C., Benishek, K., McCarty, C. A., Giampietro, P. F., Reynolds, K., & Rasmussen, K. (2008). Clinical genetics provider real-time workflow study. Genetics in Medicine, 10(9), 699–706.
National Society of Genetic Counselors. (2004). 2004 Professional status survey. Retrieved November 8, 2016 from http://www.nsgc.org/p/do/sd/sid=5.
National Society of Genetic Counselors. (2006). 2006 Professional status survey. Retrieved November 8, 2016 from http://www.nsgc.org/p/do/sd/sid=6.
National Society of Genetic Counselors. (2016). 2016 professional status survey: work environment. Retrieved November 8, 2016 from http://www.nsgc.org/p/do/sd/sid=5195.
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., et al. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–424.
Scherr, C. L., Lindor, N. M., Malo, T. L., Couch, F. J., & Vadaparampil, S. T. (2015). A preliminary investigation of genetic counselors’ information needs when receiving a variant of uncertain significance result: a mixed methods study. Genetics in Medicine, 17(9), 739–746.
Wain, K. E., Challman, T. D., Finucane, B., Seeley, A., Martin, C. L. (2017a). Adding value to the clinvar database through non-laboratory clinical provider variant submissions. Unpublished abstract, Curating the Clinical Genome Meeting.
Wain, K. E., Rooney Riggs, E., & Martin, C. L. (2017b). Assessing the role of clinical genetic counselors in genomic variant evaluation. Unpublished abstract, American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting.
Waltman, L., Runke, C., Balcom, J., Riley, J. D., Lilley, M., Christian, S., Zetzsche, L., & Goodenberger, M. K. L. (2016). Further defining the role of the laboratory genetic counselor. Journal of Genetic Counseling., 25(4), 786–798.
Yashar, B., Grant, T. L., & McGinnis, M. (2016). Presented abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016). Journal of Genetic Counseling, 25, 1347–1472. https://doi.org/10.1007/s10897-016-0027-x.
Zirkelbach, E., Hashmi, S., Ramdaney, A., Dunnington, L., Ashfaq, M., Nugent, E.K., Wilson K. (2017). Managing variant interpretation discrepancies in hereditary cancer: clinical practice, concerns, and desired resources. Journal of Genetic Counseling. https://doi.org/10.1007/s10897-017-0184-6.
Funding
This publication was supported by the National Human Genome Research Institute of the National Institutes of Health under grant number 1U41HG006834-01-A1.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of Interest
Karen Wain is a member of the ClinGen Education Workgroup and chairs the Variant Interpretation Subgroup.
Ethical Approval
This article does not contain any studies with human participants or animals performed by the author.
Rights and permissions
About this article
Cite this article
Wain, K. A Commentary on Opportunities for the Genetic Counseling Profession through Genomic Variant Interpretation: Reflections from an Ex-Lab Rat . J Genet Counsel 27, 747–750 (2018). https://doi.org/10.1007/s10897-018-0247-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-018-0247-3