Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited fi...

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Autores principales: Rigter, Tessel, Henneman, Lidewij, Kristoffersson, Ulf, Hall, Alison, Yntema, Helger G, Borry, Pascal, Tönnies, Holger, Waisfisz, Quinten, Elting, Mariet W, Dondorp, Wybo J, Cornel, Martina C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285964/
https://www.ncbi.nlm.nih.gov/pubmed/23784691
http://dx.doi.org/10.1002/humu.22370
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author Rigter, Tessel
Henneman, Lidewij
Kristoffersson, Ulf
Hall, Alison
Yntema, Helger G
Borry, Pascal
Tönnies, Holger
Waisfisz, Quinten
Elting, Mariet W
Dondorp, Wybo J
Cornel, Martina C
author_facet Rigter, Tessel
Henneman, Lidewij
Kristoffersson, Ulf
Hall, Alison
Yntema, Helger G
Borry, Pascal
Tönnies, Holger
Waisfisz, Quinten
Elting, Mariet W
Dondorp, Wybo J
Cornel, Martina C
author_sort Rigter, Tessel
collection PubMed
description High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating informed consent for NGS in diagnostics from a multidisciplinary point of view. By exploring recent similar experiences with unsolicited findings in other settings, an attempt is made to describe what can be learned so far for implementing NGS in standard genetic diagnostics. The article concludes with a set of points to consider in order to guide decision-making on the extent of return of results in relation to the mode of informed consent. We hereby aim to provide a sound basis for developing guidelines for optimizing the informed consent procedure.
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spelling pubmed-42859642015-02-13 Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics Rigter, Tessel Henneman, Lidewij Kristoffersson, Ulf Hall, Alison Yntema, Helger G Borry, Pascal Tönnies, Holger Waisfisz, Quinten Elting, Mariet W Dondorp, Wybo J Cornel, Martina C Hum Mutat Special Articles High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating informed consent for NGS in diagnostics from a multidisciplinary point of view. By exploring recent similar experiences with unsolicited findings in other settings, an attempt is made to describe what can be learned so far for implementing NGS in standard genetic diagnostics. The article concludes with a set of points to consider in order to guide decision-making on the extent of return of results in relation to the mode of informed consent. We hereby aim to provide a sound basis for developing guidelines for optimizing the informed consent procedure. BlackWell Publishing Ltd 2013-10 2013-07-16 /pmc/articles/PMC4285964/ /pubmed/23784691 http://dx.doi.org/10.1002/humu.22370 Text en © 2013 The Authors. *Human Mutation published by Wiley Periodicals, Inc. 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 Special Articles
Rigter, Tessel
Henneman, Lidewij
Kristoffersson, Ulf
Hall, Alison
Yntema, Helger G
Borry, Pascal
Tönnies, Holger
Waisfisz, Quinten
Elting, Mariet W
Dondorp, Wybo J
Cornel, Martina C
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
title Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
title_full Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
title_fullStr Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
title_full_unstemmed Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
title_short Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
title_sort reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics
topic Special Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285964/
https://www.ncbi.nlm.nih.gov/pubmed/23784691
http://dx.doi.org/10.1002/humu.22370
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