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Journal of Genetic Counseling

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01.08.2014 | Next Generation Genetic Counseling

Teaching Genomic Counseling: Preparing the Genetic Counseling Workforce for the Genomic Era

verfasst von: Gillian W. Hooker, Kelly E. Ormond, Kevin Sweet, Barbara B. Biesecker

Erschienen in: Journal of Genetic Counseling | Ausgabe 4/2014

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Abstract

Genetic counselors have a long-standing history of working on the clinical forefront of implementing new genetic technology. Genomic sequencing is no exception. The rapid advancement of genomic sequencing technologies, including but not limited to next generation sequencing approaches, across all subspecialties of genetic counseling mandates attention to genetic counselor training at both the graduate and continuing education levels. The current era provides a tremendous opportunity for counselors to become actively involved in making genomics more accessible, engaging the population in decisions to undergo sequencing and effectively translating genomic information to promote health and well-being. In this commentary, we explore reasons why genomic sequencing warrants particular consideration and put forward strategies for training program curricula and continuing education programs to meet this need.

Berg, J. S., Khoury, M. J., & Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 13(6), 499–504. doi:https://doi.org/10.1097/GIM.0b013e318220aaba.CrossRef

Bernhardt, B. A., Biesecker, B. B., & Mastromarino, C. L. (2000). Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. American Journal of Medical Genetics, 94(3), 189–197.PubMedCrossRef

Bloss, C. S., Schork, N. J., & Topol, E. J. (2011). Effect of direct-to-consumer genomewide profiling to assess disease risk. The New England Journal of Medicine, 364(6), 524–534. doi:https://doi.org/10.1056/NEJMoa1011893.PubMedPubMedCentralCrossRef

Boguski, M. S., Boguski, R. M., & Berman, M. R. (2013). Personal genotypes are teachable moments. Genome Medicine, 5(3), 22. doi:https://doi.org/10.1186/gm426.PubMedPubMedCentralCrossRef

Callier, S. L. (2012). Swabbing students: should universities be allowed to facilitate educational DNA testing? The American Journal of Bioethics: AJOB, 12(4), 32–40. doi:https://doi.org/10.1080/15265161.2012.656803.PubMedCrossRef

Claassen, L., Henneman, L., De Vet, R., Knol, D., Marteau, T., & Timmermans, D. (2010). Fatalistic responses to different types of genetic risk information: exploring the role of self-malleability. Psychology & Health, 25(2), 183–196. doi:https://doi.org/10.1080/08870440802460434.CrossRef

Collins, R. E., Wright, A. J., & Marteau, T. M. (2011). Impact of communicating personalized genetic risk information on perceived control over the risk: a systematic review. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 13(4), 273–277. doi:https://doi.org/10.1097/GIM.0b013e3181f710ca.CrossRef

Dorschner, M. O., Amendola, L. M., Turner, E. H., Robertson, P. D., Shirts, B. H., Gallego, C. J., et al. (2013). Actionable, pathogenic incidental findings in 1,000 participants’ exomes. American Journal of Human Genetics, 93(4), 631–640. doi:https://doi.org/10.1016/j.ajhg.2013.08.006.PubMedPubMedCentralCrossRef

Elias, S., & Annas, G. J. (1994). Generic consent for genetic screening. The New England Journal of Medicine, 330(22), 1611–1613. doi:https://doi.org/10.1056/NEJM199406023302213.PubMedCrossRef

Facio, F. M., Brooks, S., Loewenstein, J., Green, S., Biesecker, L. G., & Biesecker, B. B. (2011). Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. European Journal of Human Genetics: EJHG, 19(12), 1213–1217. doi:https://doi.org/10.1038/ejhg.2011.123.PubMedCrossRefPubMedCentral

Glanz, K., Rimer, B. K., & Viswanath, K. (2008). Health behavior and health education: Theory, research, and practice (4th ed.). San Francisco: Jossey-Bass.

Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., et al. (2013). ACMG Recommendations for reporting of incidental findings in clinical exome and genome sequencing (pp. 29): American College of Medical Genetics.

Hadley, D. W., Ashida, S., Jenkins, J. F., Calzone, K. A., Kirsch, I. R., & Koehly, L. M. (2011). Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation. Clinical Genetics, 79(4), 321–328. doi:https://doi.org/10.1111/j.1399-0004.2010.01622.x.PubMedPubMedCentralCrossRef

Hamilton, J. G., Hutson, S. P., Moser, R. P., Kobrin, S. C., Frohnmayer, A. E., Alter, B. P., et al. (2013). Sources of uncertainty and their association with medical decision making: exploring mechanisms in Fanconi Anemia. Annals of Behavioral Medicine: A Publication of the Society of Behavioral Medicine. doi:https://doi.org/10.1007/s12160-013-9507-5.PubMedCrossRef

Han, P. K., Klein, W. M., & Arora, N. K. (2011). Varieties of uncertainty in health care: a conceptual taxonomy. Medical Decision Making: An International Journal of the Society for Medical Decision Making, 31(6), 828–838. doi:https://doi.org/10.1177/0272989X11393976.CrossRef

Jaffe, A., Wojcik, G., Chu, A., Golozar, A., Maroo, A., Duggal, P., et al. (2011). Identification of functional genetic variation in exome sequence analysis. BMC Proceedings, 5(Suppl 9), S13. doi:https://doi.org/10.1186/1753-6561-5-S9-S13.PubMedPubMedCentralCrossRef

James, K. M., Cowl, C. T., Tilburt, J. C., Sinicrope, P. S., Robinson, M. E., Frimannsdottir, K. R., et al. (2011). Impact of direct-to-consumer predictive genomic testing on risk perception and worry among patients receiving routine care in a preventive health clinic. Mayo Clinic Proceedings, 86(10), 933–940. doi:https://doi.org/10.4065/mcp.2011.0190.PubMedPubMedCentralCrossRef

Johnston, J. J., & Biesecker, L. G. (2013). Databases of genomic variation and phenotypes: existing resources and future needs. Human Molecular Genetics, 22(R1), R27–R31. doi:https://doi.org/10.1093/hmg/ddt384.PubMedPubMedCentralCrossRef

Johnston, J. J., Rubinstein, W. S., Facio, F. M., Ng, D., Singh, L. N., Teer, J. K., et al. (2012). Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. American Journal of Human Genetics, 91(1), 97–108. doi:https://doi.org/10.1016/j.ajhg.2012.05.021.PubMedPubMedCentralCrossRef

Kaphingst, K. A., McBride, C. M., Wade, C., Alford, S. H., Reid, R., Larson, E., et al. (2012). Patients’ understanding of and responses to multiplex genetic susceptibility test results. Genetic in Medicine, 14(7), 681–687. doi:https://doi.org/10.1038/gim.2012.22.CrossRef

Knowles, M. S. (1980). What is andragogy? Chicago: Illinois, Association Press.

McBride, C. M., Bowen, D., Brody, L. C., Condit, C. M., Croyle, R. T., Gwinn, M., et al. (2010a). Future health applications of genomics: priorities for communication, behavioral, and social sciences research. American Journal of Preventive Medicine, 38(5), 556–565. doi:https://doi.org/10.1016/j.amepre.2010.01.027.PubMedPubMedCentralCrossRef

McBride, C. M., Koehly, L. M., Sanderson, S. C., & Kaphingst, K. A. (2010b). The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors? Annual Review of Public Health, 31, 89–103. doi:https://doi.org/10.1146/annurev.publhealth.012809.103532.PubMedCrossRef

McBride, C. M., Wade, C. H., & Kaphingst, K. A. (2010c). Consumers’ views of direct-to-consumer genetic information. Annual Review of Genomics and Human Genetics, 11, 427–446. doi:https://doi.org/10.1146/annurev-genom-082509-141604.PubMedCrossRef

Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., et al. (2010a). Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics, 42(1), 30–35. doi:https://doi.org/10.1038/ng.499.PubMedCrossRef

Ng, S. B., Nickerson, D. A., Bamshad, M. J., & Shendure, J. (2010b). Massively parallel sequencing and rare disease. Human Molecular Genetics, 19(R2), R119–R124. doi:https://doi.org/10.1093/hmg/ddq390.PubMedPubMedCentralCrossRef

OHRP. (1998, 9/30/98). §46.116 - Informed consent checklist - basic and additional elements https://doi.org/www.hhs.gov/ohrp/policy/consentckls.html Retrieved 6/4/13, 2013.

Platt, J., Bollinger, J., Dvoskin, R., Kardia, S. L., & Kaufman, D. (2013). Public preferences regarding informed consent models for participation in population-based genomic research. Genetics in Medicine: Official Journal of the American College of Medical Genetics. doi:https://doi.org/10.1038/gim.2013.59.PubMedPubMedCentralCrossRef

Profato, J. (2011). Assessing the integration of genomic medicine into genetic counseling training programs. MS Masters Thesis Stanford University Palo Alto, CA.

Rehm, H. L., Bale, S. J., Bayrak-Toydemir, P., Berg, J. S., Brown, K. K., Deignan, J. L., et al. (2013). ACMG clinical laboratory standards for next-generation sequencing. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 15(9), 733–747. doi:https://doi.org/10.1038/gim.2013.92.CrossRef

Roter, D., Ellington, L., Erby, L. H., Larson, S., & Dudley, W. (2006). The Genetic Counseling Video Project (GCVP): models of practice. American Journal of Medical Genetics, Part C, Seminars in Medical Genetics, 142C(4), 209–220. doi:https://doi.org/10.1002/ajmg.c.30094.CrossRef

Salari, K., Karczewski, K. J., Hudgins, L., & Ormond, K. E. (2013). Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine. PloS One, 8(7), e68853. doi:https://doi.org/10.1371/journal.pone.0068853.PubMedPubMedCentralCrossRef

Salari, K., Pizzo, P. A., & Prober, C. G. (2011). Commentary: to genotype or not to genotype? Addressing the debate through the development of a genomics and personalized medicine curriculum. Academic Medicine: Journal of the Association of American Medical Colleges, 86(8), 925–927. doi:https://doi.org/10.1097/ACM.0b013e3182223acf.CrossRef

Schaffer, A. A. (2013). Digenic inheritance in medical genetics. Journal of Medical Genetics, 50(10), 641–652. doi:https://doi.org/10.1136/jmedgenet-2013-101713.PubMedCrossRef

Schwartz, M. D., Isaacs, C., Graves, K. D., Poggi, E., Peshkin, B. N., Gell, C., et al. (2012). Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer, 118(2), 510–517. doi:https://doi.org/10.1002/cncr.26294.PubMedCrossRef

Sloan, J. L., Johnston, J. J., Manoli, I., Chandler, R. J., Krause, C., Carrillo-Carrasco, N., et al. (2011). Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics, 43(9), 883–886. doi:https://doi.org/10.1038/ng.908.PubMedPubMedCentralCrossRef

Stern, A. (2012). Telling genes: The story of genetic counseling in America. Baltimore: Johns Hopkins University Press.

Tester, D. J., Will, M. L., Haglund, C. M., & Ackerman, M. J. (2005). Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm: the Official Journal of the Heart Rhythm Society, 2(5), 507–517. doi:https://doi.org/10.1016/j.hrthm.2005.01.020.CrossRef

Vernez, S., Salari, K., Ormond, K. E., & Lee, S. S. (2013). Personal genome testing in medical education: student experiences with genotyping in the classroom. Genome Medicine, 5(3), 24. doi:https://doi.org/10.1186/gm428.PubMedPubMedCentralCrossRef

Walt, D. R., Kuhlik, A., Epstein, S. K., Demmer, L. A., Knight, M., Chelmow, D., et al. (2011). Lessons learned from the introduction of personalized genotyping into a medical school curriculum. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 13(1), 63–66. doi:https://doi.org/10.1097/GIM.0b013e3181f872ac.CrossRef

Watkins, H., Ashrafian, H., & Redwood, C. (2011). Inherited cardiomyopathies. The New England Journal of Medicine, 364(17), 1643–1656. doi:https://doi.org/10.1056/NEJMra0902923.CrossRefPubMed

Westbrook, M. J., Wright, M. F., Van Driest, S. L., McGregor, T. L., Denny, J. C., Zuvich, R. L., et al. (2013). Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing. Genetics in Medicine, 15(5), 325–331.PubMedCrossRef

Wiens, M. E., Wilson, B. J., Honeywell, C., & Etchegary, H. (2013). A family genetic risk communication framework: guiding tool development in genetics health services. Journal of Community Genetics, 4(2), 233–242. doi:https://doi.org/10.1007/s12687-012-0134-9.PubMedPubMedCentralCrossRef

Wolf, S. M., Annas, G. J., & Elias, S. (2013). Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science, 340(6136), 1049–1050. doi:https://doi.org/10.1126/science.1239119.PubMedPubMedCentralCrossRef

Wolf, S. M., Crock, B. N., Van Ness, B., Lawrenz, F., Kahn, J. P., Beskow, L. M., et al. (2012). Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 14(4), 361–384. doi:https://doi.org/10.1038/gim.2012.23.CrossRef

Yu, B. (2009). Role of in silico tools in gene discovery. Molecular Biotechnology, 41(3), 296–306. doi:https://doi.org/10.1007/s12033-008-9134-8.PubMedCrossRef

Titel: Teaching Genomic Counseling: Preparing the Genetic Counseling Workforce for the Genomic Era
verfasst von: Gillian W. Hooker
Kelly E. Ormond
Kevin Sweet
Barbara B. Biesecker
Publikationsdatum: 01.08.2014
Verlag: Springer US
Erschienen in: Journal of Genetic Counseling / Ausgabe 4/2014
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-014-9689-4

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