Peer-reviewed article
Developing an Educational Visual Tool to Support Families Considering Whole-Exome Sequencing in Japan.
Harada K, Kaneko M, Kosugi S, Kawame H ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study describes the development of an animated educational video and booklet about whole-exome sequencing (WES) for families in Japan whose children may have genetic conditions. The materials were designed following established standards and refined based on feedback from genetics professionals, patient advocates, and parents. Parents found the video easy to understand and potentially helpful for clinical discussions, though the study does not measure impacts on child health outcomes or family decision-making.
Key points
- First animated educational tool on WES developed specifically for Japan
- Materials were developed according to International Patient Decision Aid Standards
- Alpha testing with 31 stakeholders (clinical professionals and patient advocates) led to revisions improving accuracy and clarity
- Beta testing with 23 parents showed the video was rated as easy to understand and appropriately paced
- Parents saw potential value for facilitating discussion during genetic counseling visits
Limitations
This is a tool development and acceptability study without evaluation of actual impact on parental decision-making, understanding, or child health outcomes. The small sample sizes (23-31 participants) and lack of a comparison group limit generalizability of findings.
Abstract
Background Whole-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. Methods The 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). Results Stakeholders' 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. Conclusions This 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.