Abstract
The recent introduction of clinically available next generation sequencing (NGS) cancer panels has presented new challenges for genetic counselors. Determining which patients are appropriate for NGS panel testing is complex. Due to the large number of genes included in the NGS panels, thorough and appropriate pre-test counseling and interpretation of NGS results can be a time-consuming and difficult process. Many of the genes associated with increased cancer risk lack published clinical management guidelines and estimates of cancer risk for individuals with deleterious mutations. In order to efficiently and effectively review the clinical utility of NGS panels, Colorado cancer genetic counselors formed a working group to gain a better understanding of the genes included in NGS cancer panels. This publication reports on the approach of this group, the process used to evaluate a selected NGS panel, future directions for this collaboration, and ideas for other genetic counselors to form similar groups to efficiently evaluate new technologies and improve practice.
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Acknowledgments
The authors would like to thank the following genetic counselors who contributed to this project, provided editorial feedback for this manuscript, and/or plan to participate in the future plans of this group: Teresa Castellano, Jaclyn Foster, Wendy Garlitz, Kelly Johnson, Lisa Ku, Suzanne Schrock-Kelley, Michelle Springer, Joy Stern, Kelli Swan, and Autumn Tansky. We would also like to thank Rebekah Moore, BS, genetic counseling graduate student, for her assistance with tracking conference call attendance. Lastly, we would like to thank the guest editors, Myra I. Roche, MS, CGC and Christina Palmer, PhD, for including this manuscript in this special issue of the Journal of Genetic Counseling and for their thoughtful and invaluable editorial feedback.
Conflict of Interest
Kami Wolfe Schneider, Allison Anguiano, Lisen Axell, Christine Barth, Kate Crow, Melissa Gilstrap, Barbara Hamlington, Shonee Lesh, Lisa Mullineaux, Alanna Kulchak Rahm, and Elena Strait declare that they have no conflict of interest. Mary Freivogel is on the speaker’s bureau and acts as a consultant for Myriad Genetics, Inc., a commercial genetic testing laboratory.
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No animal or human studies were carried out by the authors for this article.
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Appendix 1. Template for evaluating each gene in the NGS panel
Appendix 1. Template for evaluating each gene in the NGS panel
GENE NAME:
GENE FUNCTION:
INHERITANCE:
POPULATION FREQUENCY OF DELETERIOUS MUTATIONS IN THIS GENE:
ESTIMATED PERCENTAGE OF INHERITED BREAST CANCER (IF AVAILABLE):
PERCENTAGE OF BRCA NEGATIVE PATIENTS WHO ARE AFFECTED WITH BREAST CANCER AND HAVE A MUTATION IN THIS GENE (IF AVAILABLE):
LABS THAT OFFER EVALUATION OF THIS GENE (INCLUDING METHODOLOGY AT EACH LAB):
CLINICAL IMPLICATIONS:
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TO PATIENT
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Cancer risks
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Screening recommendations
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TO FAMILY MEMBERS (i.e. Is a true negative really a true negative?)
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Genetic testing recommendations
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Cancer risks
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Screening recommendations
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ASSOCIATION WITH OTHER GENETIC CONDITIONS (if applicable)
TEMPLATE FOR DICTATION FOR A DELETERIOUS MUTATION IN THIS GENE:
REFERENCE LIST:
COMMENT ON THE TYPE/QUALITY OF STUDIES RELATED TO THIS GENE: (i.e. is the research completed substantial or is it based only on a few small studies)
YOUR NAME(S):
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Wolfe Schneider, K., Anguiano, A., Axell, L. et al. Collaboration of Colorado Cancer Genetic Counselors to Integrate Next Generation Sequencing Panels into Clinical Practice. J Genet Counsel 23, 640–646 (2014). https://doi.org/10.1007/s10897-014-9718-3
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DOI: https://doi.org/10.1007/s10897-014-9718-3