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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.

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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).

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Correspondence to Gemma R Brett.

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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.

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No animal studies were carried out by the authors for this article.

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Brett, G.R., Wilkins, E.J., Creed, E.T. et al. Genetic Counseling in the Era of Genomics: What’s all the Fuss about?. J Genet Counsel 27, 1010–1021 (2018).

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  • Genetic counseling
  • Genomics
  • Genetic testing
  • Counseling issues
  • Secondary findings
  • Whole exome sequencing
  • Client expectations