A personalized genomic results e-booklet, co-designed and pilot-tested by families.
Genome sequencing
genetic counselling
genomic results
patient co-design
patient-oriented research
Journal
PEC innovation
ISSN: 2772-6282
Titre abrégé: PEC Innov
Pays: Netherlands
ID NLM: 9918367980406676
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
19
01
2022
revised:
19
03
2022
accepted:
12
04
2022
medline:
16
4
2022
pubmed:
16
4
2022
entrez:
22
5
2023
Statut:
epublish
Résumé
To develop and evaluate a personalizable genomic results e-booklet that helps families understand their genomic testing results and navigate available resources. The need for the Genomics Results e-Booklet was identified by families, after which this tool was developed by a team of clinical researchers and three parent-advisors. We customized the genomic results e-booklet for 50 families participating in a genomic sequencing research study. We conducted an assessment using a 19-question survey and semi-structured interviews to elicit feedback and iteratively improve the tool. 25 users provided feedback via questionnaires and seven respondents were interviewed. Genomic Results e-Booklet recipients responded favorably: 96% of participants stated that it helped them remember information shared during their results appointment, 80% said it had or would help them communicate their results with other healthcare providers, 68% felt that it helped to identify and guide their next steps, and 72% anticipated that the e-booklet would have future utility. The Genomic Results e-Booklet is a patient and family-oriented resource that complements post-test genetic counselling. Compared to traditional laboratory reports and clinical letters, the Genomics Results e-Booklet is patient-conceived and patient-centered, and allows clinicians to efficiently personalize content and prioritize patient understanding and support.
Identifiants
pubmed: 37213729
doi: 10.1016/j.pecinn.2022.100039
pii: S2772-6282(22)00024-3
pmc: PMC10194288
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100039Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
There are no conflicts of interest.
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