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

LEWIS, Celine, SANDERSON, Saskia, HILL, Melissa, PATCH, Chris, SEARLE, Beverly, HUNTER, Amy and CHITTY, Lyn S. (2020). Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study. European Journal of Human Genetics, 28 (7), 874-884.

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Abstract: 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.

Item Type: Article
Additional Information: ** From Springer Nature via Jisc Publications Router ** Licence for this article: **Journal IDs: pissn 1018-4813; eissn 1476-5438 **Article IDs: publisher-id: s41431-020-0575-2; manuscript: 575 **History: published 07-2020; online 30-01-2020; published_online 30-01-2020; registration 17-01-2020; accepted 14-01-2020; rev-recd 05-11-2019; submitted 13-03-2019
Uncontrolled Keywords: Article, /706/689/477/2811, /706/689, article
Identification Number:
Page Range: 874-884
SWORD Depositor: Colin Knott
Depositing User: Colin Knott
Date Deposited: 29 Jun 2020 14:33
Last Modified: 18 Mar 2021 00:38

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