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“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project
PURPOSE: Approaches to secondary findings in genome sequencing (GS) are unresolved. In the United Kingdom, GS is now routinely available through the 100,000 Genomes Project, which offers participants feedback of limited secondary findings. METHODS: In Oxford, a Genomic Medicine Multidisciplinary Tea...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group US
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880578/ https://www.ncbi.nlm.nih.gov/pubmed/29261176 http://dx.doi.org/10.1038/gim.2017.157 |
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author | Ormondroyd, Elizabeth Mackley, Michael P Blair, Edward Craft, Judith Knight, Julian C Taylor, Jenny C Taylor, John Watkins, Hugh |
author_facet | Ormondroyd, Elizabeth Mackley, Michael P Blair, Edward Craft, Judith Knight, Julian C Taylor, Jenny C Taylor, John Watkins, Hugh |
author_sort | Ormondroyd, Elizabeth |
collection | PubMed |
description | PURPOSE: Approaches to secondary findings in genome sequencing (GS) are unresolved. In the United Kingdom, GS is now routinely available through the 100,000 Genomes Project, which offers participants feedback of limited secondary findings. METHODS: In Oxford, a Genomic Medicine Multidisciplinary Team (GM-MDT) governs local access to GS, and reviews findings. Semistructured interviews were conducted with 19 GM-MDT members to explore perspectives on secondary findings. RESULTS: While enthusiastic about GS for diagnosing rare disease, members question the rationale for genome screening largely because of lack of evidence for clinical utility and limited justification for use of resources. Members’ views are drawn from diverse experiences; they feel a strong sense of responsibility to act in participants’ best interests. The capacity to return limited secondary findings should be enabled, but members favor a cautious approach that is responsive to accumulating evidence. Informed participant choice is considered critical, yet challenging. Discrimination of variants is considered essential, and requiring of specialist input and consensus. Multiple areas requiring enhanced engagement and education are identified, i.e., for patients, the public, and health-care professionals; at present, mainstreaming of genomics may be premature. CONCLUSION: UK experts believe that evidence to inform policy toward secondary findings is lacking, arguing for caution. SUPPLEMENTARY INFORMATION: The online version of this article (doi:10.1038/gim.2017.157) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-5880578 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group US |
record_format | MEDLINE/PubMed |
spelling | pubmed-58805782018-04-04 “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project Ormondroyd, Elizabeth Mackley, Michael P Blair, Edward Craft, Judith Knight, Julian C Taylor, Jenny C Taylor, John Watkins, Hugh Genet Med Article PURPOSE: Approaches to secondary findings in genome sequencing (GS) are unresolved. In the United Kingdom, GS is now routinely available through the 100,000 Genomes Project, which offers participants feedback of limited secondary findings. METHODS: In Oxford, a Genomic Medicine Multidisciplinary Team (GM-MDT) governs local access to GS, and reviews findings. Semistructured interviews were conducted with 19 GM-MDT members to explore perspectives on secondary findings. RESULTS: While enthusiastic about GS for diagnosing rare disease, members question the rationale for genome screening largely because of lack of evidence for clinical utility and limited justification for use of resources. Members’ views are drawn from diverse experiences; they feel a strong sense of responsibility to act in participants’ best interests. The capacity to return limited secondary findings should be enabled, but members favor a cautious approach that is responsive to accumulating evidence. Informed participant choice is considered critical, yet challenging. Discrimination of variants is considered essential, and requiring of specialist input and consensus. Multiple areas requiring enhanced engagement and education are identified, i.e., for patients, the public, and health-care professionals; at present, mainstreaming of genomics may be premature. CONCLUSION: UK experts believe that evidence to inform policy toward secondary findings is lacking, arguing for caution. SUPPLEMENTARY INFORMATION: The online version of this article (doi:10.1038/gim.2017.157) contains supplementary material, which is available to authorized users. Nature Publishing Group US 2017-10-26 2018 /pmc/articles/PMC5880578/ /pubmed/29261176 http://dx.doi.org/10.1038/gim.2017.157 Text en © The Author(s) 2018 https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) |
spellingShingle | Article Ormondroyd, Elizabeth Mackley, Michael P Blair, Edward Craft, Judith Knight, Julian C Taylor, Jenny C Taylor, John Watkins, Hugh “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project |
title | “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project |
title_full | “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project |
title_fullStr | “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project |
title_full_unstemmed | “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project |
title_short | “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project |
title_sort | “not pathogenic until proven otherwise”: perspectives of uk clinical genomics professionals toward secondary findings in context of a genomic medicine multidisciplinary team and the 100,000 genomes project |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880578/ https://www.ncbi.nlm.nih.gov/pubmed/29261176 http://dx.doi.org/10.1038/gim.2017.157 |
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