ArticlePediatrics international : official journal of the Japan Pediatric Society
Developing an Educational Visual Tool to Support Families Considering Whole-Exome Sequencing in Japan.
Article in Pediatrics international : official journal of the Japan Pediatric Society. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
Funding
Abstract
backgroundWhole-exome sequencing (WES) is increasingly used in pediatric diagnostics, yet families often struggle to understand its complexity and implications. Educational resources that facilitate informed decision-making are essential in genomic medicine. This study aimed to develop and evaluate an animated educational video and accompanying booklet to support families considering WES for children with suspected genetic conditions in Japan.
methodsThe materials were designed according to the International Patient Decision Aid Standards and informed by prior studies. The alpha version was reviewed by clinical genetics professionals and patient advocates (n = 31), and revised based on their feedback. The beta version was subsequently evaluated by parents of children with congenital or genetic disorders (n = 23).
resultsStakeholders' feedback improved the accuracy, clarity, and structure of the materials. Parents rated the video as easy to understand, useful, and appropriately paced. Open-ended comments highlighted its potential value in facilitating discussion during clinical visits.
conclusionsThis is the first animated educational tool on WES to be developed in Japan. The video and booklet may enhance family understanding, support psychosocial dialogue in genetic counseling, and promote value-based decision-making. Broader implementation could contribute to more consistent and equitable communication about WES in pediatric care settings.
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