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Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study

The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited disease diagnosis; all participants receive their main findings and contribute their data for research, and are offered optional seconda...

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Autores principales: Lewis, Celine, Sanderson, Saskia, Hill, Melissa, Patch, Chris, Searle, Beverly, Hunter, Amy, Chitty, Lyn S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316711/
https://www.ncbi.nlm.nih.gov/pubmed/32001839
http://dx.doi.org/10.1038/s41431-020-0575-2
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author Lewis, Celine
Sanderson, Saskia
Hill, Melissa
Patch, Chris
Searle, Beverly
Hunter, Amy
Chitty, Lyn S.
author_facet Lewis, Celine
Sanderson, Saskia
Hill, Melissa
Patch, Chris
Searle, Beverly
Hunter, Amy
Chitty, Lyn S.
author_sort Lewis, Celine
collection PubMed
description The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited disease diagnosis; all participants receive their main findings and contribute their data for research, and are offered optional secondary findings. Our aim was to explore participating parents’ attitudes towards and understanding of genome sequencing in this hybrid context. We conducted in-depth telephone interviews with 20 parents of children with rare diseases participating in the 100,000 Genomes Project. Parents were positive about contributing to research, although some had needed reassurance about data protections. Although most felt positive about secondary findings, some could not recall or misunderstood key aspects. Some were also concerned about potential emotional impact of results and a few raised concerns about life insurance implications, and the impact of future legal changes. Participants were generally positive about consent appointments, but several raised concerns about ‘information overload’ because of deciding about secondary findings at the same time as about the main diagnostic genome sequencing and data contribution. Additional information resources, particularly online tools, were highlighted as potentially useful ways of supporting the consent process. We conclude that parents offered genome sequencing as part of a national hybrid clinical and research project report many positive attitudes and experiences, but also concerns and misunderstandings. Further research is needed on how best to support informed consent, particularly about secondary findings. Additional resources such as online tools might usefully support future genome sequencing consent processes.
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spelling pubmed-73167112020-06-30 Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study Lewis, Celine Sanderson, Saskia Hill, Melissa Patch, Chris Searle, Beverly Hunter, Amy Chitty, Lyn S. Eur J Hum Genet Article The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited disease diagnosis; all participants receive their main findings and contribute their data for research, and are offered optional secondary findings. Our aim was to explore participating parents’ attitudes towards and understanding of genome sequencing in this hybrid context. We conducted in-depth telephone interviews with 20 parents of children with rare diseases participating in the 100,000 Genomes Project. Parents were positive about contributing to research, although some had needed reassurance about data protections. Although most felt positive about secondary findings, some could not recall or misunderstood key aspects. Some were also concerned about potential emotional impact of results and a few raised concerns about life insurance implications, and the impact of future legal changes. Participants were generally positive about consent appointments, but several raised concerns about ‘information overload’ because of deciding about secondary findings at the same time as about the main diagnostic genome sequencing and data contribution. Additional information resources, particularly online tools, were highlighted as potentially useful ways of supporting the consent process. We conclude that parents offered genome sequencing as part of a national hybrid clinical and research project report many positive attitudes and experiences, but also concerns and misunderstandings. Further research is needed on how best to support informed consent, particularly about secondary findings. Additional resources such as online tools might usefully support future genome sequencing consent processes. Springer International Publishing 2020-01-30 2020-07 /pmc/articles/PMC7316711/ /pubmed/32001839 http://dx.doi.org/10.1038/s41431-020-0575-2 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Lewis, Celine
Sanderson, Saskia
Hill, Melissa
Patch, Chris
Searle, Beverly
Hunter, Amy
Chitty, Lyn S.
Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
title Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
title_full Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
title_fullStr Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
title_full_unstemmed Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
title_short Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
title_sort parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316711/
https://www.ncbi.nlm.nih.gov/pubmed/32001839
http://dx.doi.org/10.1038/s41431-020-0575-2
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