Design and evaluation of a visual genomic explainer: a mixed-methods study

Arch Dis Child. 2024 Oct 23:archdischild-2024-327650. doi: 10.1136/archdischild-2024-327650. Online ahead of print.

Abstract

Objective: To design and assess a visual genomic explainer focusing on plain language and engaging imagery. The explainer aimed to support doctors' comprehension of complex genomic concepts and results and act as a resource promoting the integration of genomic testing into mainstream care.

Design: Prospective genomic resource development and questionnaire.

Setting: Regional and tertiary hospitals in Australia and Ireland, private and community-based clinicians in Australia.

Participants: Recruitment of paediatricians and nephrologists in Australia and paediatricians in Ireland was multi-faceted. Emails with survey links were circulated through training bodies, advanced trainee networks, departmental heads, and professional societies.

Main outcome measures: Comprehension, engagement and perception of the visual explainer.

Results: Most clinicians surveyed (95% (53) Australian group, 100% (29) Irish group) felt that genomics would be a useful tool in their practice. 77% of Australian paediatric respondents and 73% of Irish paediatric respondents felt that genomics was underutilised. Challenges encountered with genomic testing included poor patient comprehension of the testing process and results along with difficulties perceived by clinicians in explaining complex results. 89% of Australian paediatricians and 100% of Irish paediatricians surveyed would recommend the use of the explainer to other professionals in their field.

Conclusion: This genomic resource was acceptable to clinicians and could be a useful tool to support paediatricians integrating genomic testing into mainstream care.

Keywords: Child Health; Genetics; Paediatrics.