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Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients

Next-generation sequencing is increasingly being chosen as a diagnostic tool for cases of expected genetic, but unresolved origin. The consequential increased need for decisions on disclosure of unsolicited findings poses a challenge for the informed consent procedure. This study explored the first...

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Autores principales: Rigter, T, van Aart, CJA, Elting, MW, Waisfisz, Q, Cornel, MC, Henneman, L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231277/
https://www.ncbi.nlm.nih.gov/pubmed/24117109
http://dx.doi.org/10.1111/cge.12299
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author Rigter, T
van Aart, CJA
Elting, MW
Waisfisz, Q
Cornel, MC
Henneman, L
author_facet Rigter, T
van Aart, CJA
Elting, MW
Waisfisz, Q
Cornel, MC
Henneman, L
author_sort Rigter, T
collection PubMed
description Next-generation sequencing is increasingly being chosen as a diagnostic tool for cases of expected genetic, but unresolved origin. The consequential increased need for decisions on disclosure of unsolicited findings poses a challenge for the informed consent procedure. This study explored the first experiences with, and needs for, the informed consent procedure in diagnostic exome sequencing, with the stakeholders involved. Semi-structured interviews were conducted with 11 professional experts and one professional gave a written response. Furthermore, the counseling process was observed in three cases where exome sequencing was offered, followed by interviews with the patient (representative) and the genetic counselor. The respondents not only preferred an opt-out for unsolicited findings but also identified many challenges and therefore more experiences with exome sequencing was considered needed. Context-dependent decision-making was observed and an Advisory Board for unsolicited findings was considered helpful while doubts were raised about the feasibility and the possibility of undermining patients' autonomy. Finally, respondents brought up the complexity of information provision, and division of responsibilities between clinicians and the lab. These challenges and needs, raised by stakeholders involved, provide more insight in the next steps needed for an optimal informed consent procedure for exome sequencing in diagnostics.
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spelling pubmed-42312772014-12-15 Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients Rigter, T van Aart, CJA Elting, MW Waisfisz, Q Cornel, MC Henneman, L Clin Genet Social and Behavioural Research in Clinical Genetics Next-generation sequencing is increasingly being chosen as a diagnostic tool for cases of expected genetic, but unresolved origin. The consequential increased need for decisions on disclosure of unsolicited findings poses a challenge for the informed consent procedure. This study explored the first experiences with, and needs for, the informed consent procedure in diagnostic exome sequencing, with the stakeholders involved. Semi-structured interviews were conducted with 11 professional experts and one professional gave a written response. Furthermore, the counseling process was observed in three cases where exome sequencing was offered, followed by interviews with the patient (representative) and the genetic counselor. The respondents not only preferred an opt-out for unsolicited findings but also identified many challenges and therefore more experiences with exome sequencing was considered needed. Context-dependent decision-making was observed and an Advisory Board for unsolicited findings was considered helpful while doubts were raised about the feasibility and the possibility of undermining patients' autonomy. Finally, respondents brought up the complexity of information provision, and division of responsibilities between clinicians and the lab. These challenges and needs, raised by stakeholders involved, provide more insight in the next steps needed for an optimal informed consent procedure for exome sequencing in diagnostics. Blackwell Publishing Ltd 2014-05 2013-11-04 /pmc/articles/PMC4231277/ /pubmed/24117109 http://dx.doi.org/10.1111/cge.12299 Text en © 2013 The Authors. Clinical Genetics published by JohnWiley & Sons A/S. Published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by/3.0/ This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Social and Behavioural Research in Clinical Genetics
Rigter, T
van Aart, CJA
Elting, MW
Waisfisz, Q
Cornel, MC
Henneman, L
Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
title Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
title_full Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
title_fullStr Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
title_full_unstemmed Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
title_short Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
title_sort informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
topic Social and Behavioural Research in Clinical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231277/
https://www.ncbi.nlm.nih.gov/pubmed/24117109
http://dx.doi.org/10.1111/cge.12299
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