Genetic Counseling in the Era of Genomics: What’s all the Fuss about?
As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare professionals navigate the complexities of using genomic technologies to facilitate diagnosis and inform patient management. Counseling issues arising when counseling for diagnostic genomic sequencing were identified by four genetic counselors with 10 years of collective experience providing genetic counseling in this setting. These issues were discussed and refined at a meeting of genetic counselors working in clinical genomics settings in Melbourne, Australia. Emerging counseling issues, or variations of established counseling issues, were identified from the issues raised. Illustrative cases were selected where pre- and post-test genetic counseling was provided in clinical settings to individuals who received singleton or trio WES with targeted analysis. Counseling issues discussed in this paper include a reappraisal of how genetic counselors manage hope in the genomic era, informed consent for secondary use of genomic data, clinical reanalysis of genomic data, unexpected or unsolicited secondary findings, and trio sequencing. The authors seek to contribute to the evolving understanding of genetic counseling for diagnostic genomic sequencing through considering the applicability of existing genetic counseling competencies to managing emerging counseling issues and discussing genetic counseling practice implications.
KeywordsGenetic counseling Genomics Genetic testing Counseling issues Secondary findings Whole exome sequencing Client expectations
The authors thank the participants for their involvement and thank Associate Professor Clara Gaff for guidance in the preparation of this manuscript. The authors are funded by the Melbourne Genomics Health Alliance and the State Government of Victoria (Department of Health and Human Services).
Compliance with Ethical Standards
Conflict of Interest
Gemma R Brett, Ella J Wilkins, Emma T Creed, Kirsty West, Anna Jarmolowicz, Giulia M Valente, Yael Prawer, Elly Lynch, and Ivan Macciocca declare they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
No animal studies were carried out by the authors for this article.
- Accreditation Council for Genetic Counseling. (2015). Practice-based competencies for genetic counselors. Retrieved from www.gceducation.org website: 1st August 2017.Google Scholar
- Human Genetics Society of Australasia. (2016). Guidelines for training and certification in genetic counselling. p11–15. Retrieved from www.hgsa.org.au website: 1st August 2017.
- Krabbenborg, L., Schieving, J., Kleefstra, T., Vissers, L. E. L. M., Willemsen, M. A., Veltman, J. A., & van der Burg, S. (2016a). Evaluating a counseling strategy for diagnostic WES in paediatric neurology: an exploration of parents’ information and communication needs. Clinical Genetics, 89(2), 244–250. https://doi.org/10.1111/cge.12601 CrossRefPubMedGoogle Scholar
- Krabbenborg, L., Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., et al. (2016b). Understanding the psychosocial effects of WES test results on parents of children with rare diseases. Journal of Genetic Counseling, 25(6), 1207–1214. https://doi.org/10.1007/s10897-016-9958-5 CrossRefPubMedPubMedCentralGoogle Scholar
- Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Estabrooks Hahn, S., Strecker, M. N., & Williams, J. L. (2006). A new definition of genetic counseling: National Society of Genetic Counselors’ task force report. Journal of Genetic Counseling, 15(2), 77–83. https://doi.org/10.1007/s10897-005-9014-3 CrossRefPubMedGoogle Scholar
- Rothwell, E., Johnson, E., Mathiesen, A., Golden, K., Metcalf, A., Rose, N. C., & Botkin, J. R. (2017). Experiences among women with positive prenatal expanded carrier screening results. Journal of Genetic Counseling, 26(4), 690–696. https://doi.org/10.1007/s10897-016-0037-8 CrossRefPubMedGoogle Scholar
- Sapp, J. C., Dong, D., Stark, C., Ivey, L. E., Hooker, G., Biesecker, L. G., & Biesecker, B. B. (2014). Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children. Clinical Genetics, 85(2), 120–126. https://doi.org/10.1111/cge.12254 CrossRefPubMedGoogle Scholar
- Stark, Z., Tan, T. Y., Chong, B., Brett, G. R., Yap, P., Walsh, M., et al. (2016). A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in Medicine, 18(11), 1090–1096. https://doi.org/10.1038/gim.2016.1 CrossRefPubMedGoogle Scholar
- 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. https://doi.org/10.1002/ajmg.a.35328 CrossRefPubMedPubMedCentralGoogle Scholar
- Tan, T. Y., Dillon, O., Stark, Z., Schofield, D., Alam, K., Shrestha, R., ... White, S. M. (2017). Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatrics, Published online July 31, 2017. doi: https://doi.org/10.1001/jamapediatrics.2017.1755.CrossRefPubMedPubMedCentralGoogle Scholar
- Tolusso, L. K., Collins, K., Zhang, X., Holle, J. R., Valencia, C. A., & Myers, M. F. (2017). Pediatric whole exome sequencing: an assessment of parents’ perceived and actual understanding. Journal of Genetic Counseling, 26(4), 792–805. https://doi.org/10.1007/s10897-016-0052-9 CrossRefPubMedGoogle Scholar
- Weil, J. (2002). Genetic counselling in the era of genomic medicine: as we move towards personalised medicine, it becomes more important to help patients understand genetic tests and make complex decisions about their health. EMBO Reports, 3(7), 590–593. https://doi.org/10.1093/embo-reports/kvf144 CrossRefPubMedPubMedCentralGoogle Scholar
- Wilkins, E. J., Archibald, A. D., Sahhar, M. A., & White, S. M. (2016). “It wasn’t a disaster or anything”: Parents’ experiences of their child’s uncertain chromosomal microarray result. American Journal of Medical Genetics Part A, 170(11), 2895–2904. https://doi.org/10.1002/ajmg.a.37838 CrossRefPubMedGoogle Scholar