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Analysis of VUS rep...
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Vears, Danya F.Katholieke Univ Leuven, Dept Publ Hlth & Primary Care, Ctr Biomed Eth & Law, Kapucijnenvoer 35 Box 7001, B-3000 Leuven, Belgium;Leuven Inst Human Genom & Soc, B-3000 Leuven, Belgium
(författare)
Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms
- Artikel/kapitelEngelska2018
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2018-08-24
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NATURE PUBLISHING GROUP,2018
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electronicrdacarrier
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LIBRIS-ID:oai:DiVA.org:uu-371125
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-371125URI
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https://doi.org/10.1038/s41431-018-0239-7DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients ? Should they reinterpret VUS in response to growing knowledge in the field ? And should patients be recontacted regarding such results ? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact. One-third (20/58) of the forms did not mention VUS in any way. Of the 38 forms that mentioned VUS, only half provided some description of what a VUS is. Approximately one-third of forms explicitly stated that reinterpretation of variants for clinical purposes may occur. Less than half mentioned recontact for clinical purposes, with variation as to whether laboratories, patients, or clinicians should initiate this. We suggest that the variability in variant reporting, reinterpretation, and recontact policies and practices revealed by our analysis may lead to diffused responsibility, which could result in missed opportunities for patients or family members to receive a diagnosis in response to updated variant classifications. Finally, we provide some suggestions for ethically appropriate inclusion of policies for reporting VUS, reinterpretation, and recontact on consent forms.
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Niemiec, EmiliaUppsala universitet,Centrum för forsknings- och bioetik,Univ Bologna, Erasmus Mundus Joint Int Doctoral PhD Degree Prog, Via Galliera 3, I-40121 Bologna, Italy;Univ Turin, Dept Law, Lungo Dora Siena 100A, I-10153 Turin, Italy;Leibniz Univ Hannover, Ctr Eth & Law Life Sci, Klagesmarkt 14-17, D-30159 Hannover, Germany(Swepub:uu)emini619
(författare)
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Howard, Heidi CarmenUppsala universitet,Centrum för forsknings- och bioetik(Swepub:uu)heiho221
(författare)
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Borry, PascalKatholieke Univ Leuven, Dept Publ Hlth & Primary Care, Ctr Biomed Eth & Law, Kapucijnenvoer 35 Box 7001, B-3000 Leuven, Belgium;Leuven Inst Human Genom & Soc, B-3000 Leuven, Belgium
(författare)
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Katholieke Univ Leuven, Dept Publ Hlth & Primary Care, Ctr Biomed Eth & Law, Kapucijnenvoer 35 Box 7001, B-3000 Leuven, Belgium;Leuven Inst Human Genom & Soc, B-3000 Leuven, BelgiumCentrum för forsknings- och bioetik
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:European Journal of Human Genetics: NATURE PUBLISHING GROUP26:12, s. 1743-17511018-48131476-5438
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