Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study.
Genet Med
; 24(1): 61-74, 2022 01.
Article
em En
| MEDLINE
| ID: mdl-34906473
ABSTRACT
PURPOSE:
The purpose of this study was to assess decisions, attitudes, and understanding of participants (patients, parents, relatives) having genome sequencing for rare disease diagnosis.METHODS:
This study involved a cross-sectional observational survey with participants in the 100,000 Genomes Project.RESULTS:
Survey response rate was 51% (504/978). Most participants self-reported that they had decided to undergo genome sequencing (94%) and that this was an informed decision (84%) with low decisional conflict (95%). Most self-reported that they had chosen to receive additional findings (88%) and that this was an informed decision (89%) with low decisional conflict (95%). Participants were motivated more by the desire to help others via research than by the belief it would help them obtain a diagnosis (Z = 14.23, P = 5.75 × 10-46), although both motivations were high. Concerns were relatively few but, where expressed, were more about the potential psychological impact of results than data sharing/access (Z = 9.61, P = 7.65 × 10-22). Concerns were higher among male, Asian or Asian British, and more religious participants. General and context-specific understanding of genome sequencing were both moderately high (means 5.2/9.0 and 22.5/28.0, respectively).CONCLUSION:
These findings are useful to inform consent guidelines and clinical implementation of genome sequencing.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Pais
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Atitude
Tipo de estudo:
Guideline
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Observational_studies
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Prevalence_studies
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Prognostic_studies
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Qualitative_research
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Risk_factors_studies
Limite:
Humans
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Male
Idioma:
En
Revista:
Genet Med
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Reino Unido