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Title: Genetic Counseling in the Era of Genomics: What's all the Fuss about?
Austin Authors: Brett, Gemma R;Wilkins, Ella J;Creed, Emma T;West, Kirsty;Jarmolowicz, Anna;Valente, Giulia M ;Prawer, Yael;Lynch, Elly;Macciocca, Ivan
Affiliation: Melbourne Genomics Health Alliance, Melbourne, Australia
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Road, Parkville, VIC, 3052, Australia
Genomic Medicine, Melbourne Health, Melbourne, Australia
Genetics in the North East, Austin Health, Heidelberg, Victoria, Australia
Monash Genetics, Monash Health, Melbourne, Australia
Issue Date: 2018
Date: 2018-01-24
Publication information: Journal of genetic counseling 2018; 27(5): 1010-1021
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.
DOI: 10.1007/s10897-018-0216-x
Journal: Journal of genetic counseling
PubMed URL: 29368275
Type: Journal Article
Subjects: Client expectations
Counseling issues
Genetic counseling
Genetic testing
Secondary findings
Whole exome sequencing
Appears in Collections:Journal articles

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