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01-10-2018 | Professional Issues

Genetic Counseling in the Era of Genomics: What’s all the Fuss about?

Authors: Gemma R Brett, Ella J Wilkins, Emma T Creed, Kirsty West, Anna Jarmolowicz, Giulia M Valente, Yael Prawer, Elly Lynch, Ivan Macciocca

Published in: Journal of Genetic Counseling | Issue 5/2018

Abstract

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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Title: Genetic Counseling in the Era of Genomics: What’s all the Fuss about?
Authors: Gemma R Brett
Ella J Wilkins
Emma T Creed
Kirsty West
Anna Jarmolowicz
Giulia M Valente
Yael Prawer
Elly Lynch
Ivan Macciocca
Publication date: 01-10-2018
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 5/2018
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-018-0216-x

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Genetic Counseling in the Era of Genomics: What’s all the Fuss about?

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