Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next‐Generation Sequencing and Informed Consent in Diagnostics
Identifieur interne : 000464 ( Main/Exploration ); précédent : 000463; suivant : 000465Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next‐Generation Sequencing and Informed Consent in Diagnostics
Auteurs : Tessel Rigter [Pays-Bas] ; Lidewij Henneman [Pays-Bas] ; Ulf Kristoffersson [Suède] ; Alison Hall [Royaume-Uni] ; Helger G. Yntema [Pays-Bas] ; Pascal Borry [Belgique] ; Holger Tönnies [Allemagne] ; Quinten Waisfisz [Pays-Bas] ; Mariet W. Elting [Pays-Bas] ; Wybo J. Dondorp [Pays-Bas] ; Martina C. Cornel [Pays-Bas]Source :
- Human Mutation [ 1059-7794 ] ; 2013-10.
Abstract
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.
Url:
DOI: 10.1002/humu.22370
Affiliations:
- Allemagne, Belgique, Pays-Bas, Royaume-Uni, Suède
- Berlin, Gueldre, Hollande-Septentrionale
- Amsterdam, Berlin, Nimègue
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Yntema</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Borry, Pascal" sort="Borry, Pascal" uniqKey="Borry P" first="Pascal" last="Borry">Pascal Borry</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Public Health, Centre for Biomedical Ethics and Law, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Tonnies, Holger" sort="Tonnies, Holger" uniqKey="Tonnies H" first="Holger" last="Tönnies">Holger Tönnies</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Robert Koch‐Institut, Geschäftstelle Gendiagnostik‐Kommission, Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Waisfisz, Quinten" sort="Waisfisz, Quinten" uniqKey="Waisfisz Q" first="Quinten" last="Waisfisz">Quinten Waisfisz</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Elting, Mariet W" sort="Elting, Mariet W" uniqKey="Elting M" first="Mariet W." last="Elting">Mariet W. Elting</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Dondorp, Wybo J" sort="Dondorp, Wybo J" uniqKey="Dondorp W" first="Wybo J." last="Dondorp">Wybo J. Dondorp</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Health, Ethics & Society, Research Schools CAPHRI and GROW, Maastricht University, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Cornel, Martina C" sort="Cornel, Martina C" uniqKey="Cornel M" first="Martina C." last="Cornel">Martina C. Cornel</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Section of Community Genetics and the EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Mutation</title><title level="j" type="abbrev">Human Mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><date type="published" when="2013-10">2013-10</date><biblScope unit="volume">34</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1322">1322</biblScope><biblScope unit="page" to="1328">1328</biblScope></imprint><idno type="ISSN">1059-7794</idno></series><idno type="istex">165C939E15F08D97F94EE49716AC57E9E57E372B</idno><idno type="DOI">10.1002/humu.22370</idno><idno type="ArticleID">HUMU22370</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">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.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Belgique</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suède</li></country><region><li>Berlin</li><li>Gueldre</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Berlin</li><li>Nimègue</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Rigter, Tessel" sort="Rigter, Tessel" uniqKey="Rigter T" first="Tessel" last="Rigter">Tessel Rigter</name></region><name sortKey="Cornel, Martina C" sort="Cornel, Martina C" uniqKey="Cornel M" first="Martina C." last="Cornel">Martina C. Cornel</name><name sortKey="Dondorp, Wybo J" sort="Dondorp, Wybo J" uniqKey="Dondorp W" first="Wybo J." last="Dondorp">Wybo J. Dondorp</name><name sortKey="Elting, Mariet W" sort="Elting, Mariet W" uniqKey="Elting M" first="Mariet W." last="Elting">Mariet W. Elting</name><name sortKey="Henneman, Lidewij" sort="Henneman, Lidewij" uniqKey="Henneman L" first="Lidewij" last="Henneman">Lidewij Henneman</name><name sortKey="Waisfisz, Quinten" sort="Waisfisz, Quinten" uniqKey="Waisfisz Q" first="Quinten" last="Waisfisz">Quinten Waisfisz</name><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name></country><country name="Suède"><noRegion><name sortKey="Kristoffersson, Ulf" sort="Kristoffersson, Ulf" uniqKey="Kristoffersson U" first="Ulf" last="Kristoffersson">Ulf Kristoffersson</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Hall, Alison" sort="Hall, Alison" uniqKey="Hall A" first="Alison" last="Hall">Alison Hall</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Borry, Pascal" sort="Borry, Pascal" uniqKey="Borry P" first="Pascal" last="Borry">Pascal Borry</name></noRegion></country><country name="Allemagne"><region name="Berlin"><name sortKey="Tonnies, Holger" sort="Tonnies, Holger" uniqKey="Tonnies H" first="Holger" last="Tönnies">Holger Tönnies</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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