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Incidental findings from clinical sequencing in Greece: reporting experts’ attitudes

Unprecedented progress in sequencing technologies and decreasing cost have brought genomic testing into the clinical setting. At the same time, the debate in the literature concerning the return of incidental findings (IFs) has made this an important issue internationally. These developments reflect...

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Autores principales: Gourna, E. G., Armstrong, N., Wallace, S. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159477/
https://www.ncbi.nlm.nih.gov/pubmed/25048384
http://dx.doi.org/10.1007/s12687-014-0194-0
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author Gourna, E. G.
Armstrong, N.
Wallace, S. E.
author_facet Gourna, E. G.
Armstrong, N.
Wallace, S. E.
author_sort Gourna, E. G.
collection PubMed
description Unprecedented progress in sequencing technologies and decreasing cost have brought genomic testing into the clinical setting. At the same time, the debate in the literature concerning the return of incidental findings (IFs) has made this an important issue internationally. These developments reflect a shift in genetics that will also affect smaller countries, such as Greece, that are just starting to implement these technologies and may look to other countries for examples of good practice. Ten in-depth interviews were conducted with Greek experts in clinical sequencing. Previous experiences and attitudes toward IFs and clinical sequencing were investigated as well as views on the existing policy regarding managing genetic information generated through testing. . Interviews were analysed using thematic analysis. All participants reported the lack of any legal or other supportive mechanism. IFs are currently managed at a “local” level, i.e. within the clinic or the laboratory in an ad hoc way. All participants thought that clinically valid and actionable IFs should be returned, but always with caution and in respect to patients’ wishes, although several experts reported returning IFs according to their clinical discretion. Experts reported that most patients ask for all tests available but they felt that more counselling is needed to understand and manage genetic information. Due to the lack of any supporting mechanisms, professionals in Greece, even those with established experience in the field of genetic and genomic testing, have difficulties dealing with IFs. All experts agreed that it is now time, before the full integration of genomic testing into everyday clinical practice, for guidance to help Greek physicians work with patients and their families when IFs are discovered.
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spelling pubmed-41594772014-09-15 Incidental findings from clinical sequencing in Greece: reporting experts’ attitudes Gourna, E. G. Armstrong, N. Wallace, S. E. J Community Genet Original Article Unprecedented progress in sequencing technologies and decreasing cost have brought genomic testing into the clinical setting. At the same time, the debate in the literature concerning the return of incidental findings (IFs) has made this an important issue internationally. These developments reflect a shift in genetics that will also affect smaller countries, such as Greece, that are just starting to implement these technologies and may look to other countries for examples of good practice. Ten in-depth interviews were conducted with Greek experts in clinical sequencing. Previous experiences and attitudes toward IFs and clinical sequencing were investigated as well as views on the existing policy regarding managing genetic information generated through testing. . Interviews were analysed using thematic analysis. All participants reported the lack of any legal or other supportive mechanism. IFs are currently managed at a “local” level, i.e. within the clinic or the laboratory in an ad hoc way. All participants thought that clinically valid and actionable IFs should be returned, but always with caution and in respect to patients’ wishes, although several experts reported returning IFs according to their clinical discretion. Experts reported that most patients ask for all tests available but they felt that more counselling is needed to understand and manage genetic information. Due to the lack of any supporting mechanisms, professionals in Greece, even those with established experience in the field of genetic and genomic testing, have difficulties dealing with IFs. All experts agreed that it is now time, before the full integration of genomic testing into everyday clinical practice, for guidance to help Greek physicians work with patients and their families when IFs are discovered. Springer Berlin Heidelberg 2014-07-22 2014-10 /pmc/articles/PMC4159477/ /pubmed/25048384 http://dx.doi.org/10.1007/s12687-014-0194-0 Text en © The Author(s) 2014 https://creativecommons.org/licenses/by/4.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Original Article
Gourna, E. G.
Armstrong, N.
Wallace, S. E.
Incidental findings from clinical sequencing in Greece: reporting experts’ attitudes
title Incidental findings from clinical sequencing in Greece: reporting experts’ attitudes
title_full Incidental findings from clinical sequencing in Greece: reporting experts’ attitudes
title_fullStr Incidental findings from clinical sequencing in Greece: reporting experts’ attitudes
title_full_unstemmed Incidental findings from clinical sequencing in Greece: reporting experts’ attitudes
title_short Incidental findings from clinical sequencing in Greece: reporting experts’ attitudes
title_sort incidental findings from clinical sequencing in greece: reporting experts’ attitudes
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159477/
https://www.ncbi.nlm.nih.gov/pubmed/25048384
http://dx.doi.org/10.1007/s12687-014-0194-0
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