Top

Published in:

01-08-2014 | Next Generation Genetic Counseling

Next Generation Sequencing is the Impetus for the Next Generation of Laboratory-Based Genetic Counselors

Authors: Amy Swanson, Erica Ramos, Holly Snyder

Published in: Journal of Genetic Counseling | Issue 4/2014

Abstract

Next generation sequencing (NGS) is dramatically increasing the number of clinically available genetic tests and thus the number of patients in which such testing may be indicated. The complex nature and volume of the reported results requires professional interpretation of the testing in order to translate and synthesize the meaning and potential benefit to patients, and genetic counselors are uniquely suited to provide this service. The increased need for genetic counselors in this role, coupled with the time required and a limited number of trained and available counselors presents a challenge to current models for making genetic testing available to patients and their healthcare providers effectively and efficiently. The employment of genetic counselors at genetic/genomic laboratories is one model to expand the resources for providing this service. In this article, we briefly review the advent of NGS and its clinical applications, examine the core skills of genetic counselors and delineate the expanding roles and responsibilities of laboratory-based genetic counselors. We also propose changes to the genetic counseling training program curriculum to account for the increasing opportunities for genetic counselors to contribute and thrive within genetic testing laboratories.

Accreditation Council for Genetic Counseling. (2013). Standards of accreditation for graduate programs in genetic counseling. Retrieved September 20, 2013, from https://doi.org/www.gceducation.org/Pages/Standards.aspx

Ambry Genetics. (2013). Hereditary cancer panels. Retrieved June 24, 2013, from https://doi.org/www.ambrygen.com/hereditary-cancer-panels

American Board of Genetic Counseling. (2013). American board of genetic counseling, Inc. homepage. Retrieved June 20, 2013, from https://doi.org/www.abgc.net/ABGC/AmericanBoardofGeneticCounselors.asp

American College of Medical Genetics and Genomics. (2012). American college of medical genetics and genomics policy statement: points to consider in the clinical application of genomic sequencing. Genetics in Medicine, 14(8), 759–761.

Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., et al. (2011). Carrier testing for severe childhood recessive diseases by next-generation sequencing. Science Translational Medicine, 3(65), 65ra64.CrossRef

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., et al. (2008). Accurate whole human genome sequencing using reversible terminator chemistry. Nature, 456(7218), 53–59.PubMedPubMedCentralCrossRef

Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A. Z., Sehnert, A. J., Rava, R. P., et al. (2012). Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics and Gynecology, 119(5), 890–901.CrossRefPubMed

Brenner, S., Johnson, M., Bridgham, J., Golda, G., Lloyd, D. H., Johnson, D., et al. (2000). Gene expression analysis by massively parallel signature sequencing (MPSS) on microbead arrays. Nature Biotechnology, 18(6), 630–634.PubMedCrossRef

Brunham, L. R., & Hayden, M. R. (2012). Medicine. Whole-genome sequencing: the new standard of care? Science, 336(6085), 1112–1113.PubMedCrossRef

Chetty, S., Garabedian, M. J., & Norton, M. E. (2013). Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenatal Diagnosis, 33(6), 542–546.PubMedCrossRef

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.PubMedCrossRef

Cigna. (2013). Genetic testing and counseling program. Retrieved October 30, 2013, from https://doi.org/www.cigna.com/healthcare-professionals/resources-for-health-care-professionals/genetic-testing-and-counseling-program

Davies, Kevin. (2010). The $1,000,000 genome interpretation. Retrieved June 25, 2013, from https://doi.org/www.bio-itworld.com/2010/10/01/interpretation.html

Eid, J., Fehr, A., Gray, J., Luong, K., Lyle, J., Otto, G., et al. (2009). Real-time DNA sequencing from single polymerase molecules. Science, 323(5910), 133–138.PubMedCrossRef

Fan, H. C., Gu, W., Wang, J., Blumenfeld, Y. J., El-Sayed, Y. Y., & Quake, S. R. (2012). Non-invasive prenatal measurement of the fetal genome. Nature, 487(7407), 320–324.PubMedPubMedCentralCrossRef

Futch, T., Spinosa, J., Bhatt, S., de Feo, E., Rava, R. P., & Sehnert, A. J. (2013). Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenatal Diagnosis, 33(6), 569–574.PubMedPubMedCentralCrossRef

Giardiello, F. M., Brensinger, J. D., Petersen, G. M., Luce, M. C., Hylind, L. M., Bacon, J. A., et al. (1997). The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. New England Journal of Medicine, 336(12), 823–827.PubMedCrossRef

Harris, A., Kelly, S. E., & Wyatt, S. (2013). Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market. Journal of Genetic Counseling, 22(2), 277–288.PubMedCrossRefPubMedCentral

Kingsmore, S. F., & Saunders, C. J. (2011). Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Science Translational Medicine, 3(87), 87ps23.PubMedPubMedCentralCrossRef

Kitzman, J. O., Snyder, M. W., Ventura, M., Lewis, A. P., Qiu, R., Simmons, L. E., et al. (2012). Noninvasive whole-genome sequencing of a human fetus. Science Translational Medicine, 4(137), 137ra176.CrossRef

Li, Y., Di Naro, E., Vitucci, A., Zimmermann, B., Holzgreve, W., & Hahn, S. (2005). Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA, 293(7), 843–849.PubMedCrossRef

Lombardi, R. (2013). Genetics and sudden death. Current Opinion in Cardiology, 28(3), 272–281.PubMedCrossRef

McGovern, M. M., Benach, M., & Zinberg, R. (2003). Interaction of genetic counselors with molecular genetic testing laboratories: implications for non-geneticist health care providers. American Journal of Medical Genetics Part A, 119A(3), 297–301.PubMedCrossRef

Miller, CE., Krautscheid, P., Balwin, E., LaGrave, D., Openshaw, A., Hart, K., & Tvrdik, T. (2011). The value of genetic counselors in the laboratory (377). Paper presented at the ACMG Annual Clinical Genetics Meeting, Vancouver, British Columbia, Canada.

Nagy, R., & Sturm, A. (2013). Personalized medicine: impact on patient care in Genetic Counseling. Current Genetic Medicine Reports, 1(2), 129–134.CrossRef

National Society of Genetic Counselors. (1983). FAQs about genetic counselors and the NSGC. Retrieved June 20, 2013, from https://doi.org/www.nsgc.org/About/FAQsaboutGeneticCounselorsandtheNSGC/tabid/143/Default.aspx

National Society of Genetic Counselors. (2009). Skills of genetic counselors. Retrieved June 21, 2013, from https://doi.org/www.nsgc.org/Home/GeneticCounselorHomePage/SkillsofGeneticCounselors/tabid/365/Default.aspx

National Society of Genetic Counselors. (2012). 2012 National society of genetic counselors professional status survey. Retrieved June 21, 2013, from https://doi.org/www.nsgc.org/MemberCenter/ProfessionalStatusSurveyPSSReports/tabid/253/Default.aspx

Norton, M. E., Brar, H., Weiss, J., Karimi, A., Laurent, L. C., Caughey, A. B., et al. (2012). Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. American Journal of Obstetrics and Gynecology, 207(2), 131–138.CrossRef

Ong, F. S., Lin, J. C., Das, K., Grosu, D. S., & Fan, J.-B. (2013). Translational utility of next-generation sequencing. Genomics, 102(3), 137–139.PubMedCrossRef

Palomaki, G. E., Deciu, C., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., et al. (2012). DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetics in Medicine, 14(3), 296–305.PubMedPubMedCentralCrossRef

Parrott, S., & Manley, S. (2004). 2004 National society of genetic counselors professional status survey. Retrieved June 21, 2013, from https://doi.org/www.nsgc.org/MemberCenter/ProfessionalStatusSurveyPSSReports/tabid/253/Default.aspx

Pollack, A. (2012). Conflict potential seen in genetic counselors. The New York Times.

Rosenthal, S., Huynh, D., Dwyer, B., Williams, K., Kunz, L. (2013, March 21). Non-invasive prenatal testing and the impact on prenatal diagnostic testing: The Palo Alto Medical Foundation experience. Paper presented at the ACMG Annual Clinical Genetics Meeting, Phoenix, AZ.

Saldivar, J., McCullough, R., Hicks, S., Oeth, P., & Bombard, A. (2013). Non-Invasive Prenatal Testing (NIPT) using the MaterniT 21 PLUS Test: The clinical experience (Poster 533). Paper presented at the ACMG Annual Clinical Genetics Meeting, Phoenix, Arizona.

Sanger, F., Nicklen, S., & Coulson, A. R. (1977). DNA sequencing with chain-terminating inhibitors. Proceedings of the National Academy of Sciences of the United States of America, 74(12), 5463–5467.PubMedPubMedCentralCrossRef

Saunders, C. J., Miller, N. A., Soden, S. E., Dinwiddie, D. L., Noll, A., Alnadi, N. A., et al. (2012). Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Science Translational Medicine, 4(154), 154ra135.PubMedPubMedCentralCrossRef

Shendure, J., Porreca, G. J., Reppas, N. B., Lin, X., McCutcheon, J. P., Rosenbaum, A. M., et al. (2005). Accurate multiplex polony sequencing of an evolved bacterial genome. Science, 309(5741), 1728–1732.PubMedCrossRef

Smith, R. (2013). OtoSCOPE genetic testing. Retrieved June 24, 2013, from https://doi.org/www.healthcare.uiowa.edu/labs/morl/otoscope/info.html

Srinivasan, A., Bianchi, D. W., Huang, H., Sehnert, A. J., & Rava, R. P. (2013). Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. American Journal of Human Genetics, 92(2), 167–176.PubMedPubMedCentralCrossRef

Stoddart, D., Heron, A. J., Mikhailova, E., Maglia, G., & Bayley, H. (2009). Single-nucleotide discrimination in immobilized DNA oligonucleotides with a biological nanopore. Proceedings of the National Academy of Sciences of the United States of America, 106(19), 7702–7707.PubMedPubMedCentralCrossRef

Swanson, A., & Snyder, H. (2013). Peer-to-peer education: Development of an interactive educational course on noninvasive prenatal testing (NIPT) for clinical genetic counselors by laboratory genetic counselors. Paper presented at the NSGC Annual Education Conference, Anaheim, CA.

Wang, E., Batey, A., Struble, C., Musci, T., Song, K., & Oliphant, A. (2013). Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenatal Diagnosis, 1–5.

Wetterstrand, K. A. (2013). DNA sequencing costs: data from the NHGRI genome sequencing program (GSP). Retrieved June 20, 2013, from https://doi.org/www.genome.gov/sequencingcosts

Title: Next Generation Sequencing is the Impetus for the Next Generation of Laboratory-Based Genetic Counselors
Authors: Amy Swanson
Erica Ramos
Holly Snyder
Publication date: 01-08-2014
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 4/2014
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-013-9684-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Next Generation Sequencing is the Impetus for the Next Generation of Laboratory-Based Genetic Counselors

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2014

Lynch Syndrome Patients’ Views of and Preferences for Return of Results Following Whole Exome Sequencing

Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms

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

Assessing the Integration of Genomic Medicine in Genetic Counseling Training Programs

The Evolution of Cancer Risk Assessment in the Era of Next Generation Sequencing

Incidental Findings from Clinical Genome-Wide Sequencing: A Review