Butler Grainne, Andersen Camilla, Buttery Jim, Gupta Asheeta, Martyn Melissa M, Stark Zornitza, Wilkins Ella, Jayasinghe Kushani, Quinlan Catherine
Kidney Regeneration, Murdoch Children's Research Institute, Parkville, Victoria, Australia
Centre For Health Analytics, Royal Children's Hospital Melbourne Department of General Medicine, Parkville, Victoria, Australia.
Arch Dis Child. 2025 Jan 24;110(2):151-157. doi: 10.1136/archdischild-2024-327650.
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.
Prospective genomic resource development and questionnaire.
Regional and tertiary hospitals in Australia and Ireland, private and community-based clinicians in Australia.
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.
Comprehension, engagement and perception of the visual explainer.
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.
This genomic resource was acceptable to clinicians and could be a useful tool to support paediatricians integrating genomic testing into mainstream care.
设计并评估一个侧重于通俗易懂的语言和引人入胜的图像的视觉基因组解释工具。该解释工具旨在帮助医生理解复杂的基因组概念和结果，并作为一种资源促进将基因检测纳入主流医疗。
前瞻性基因组资源开发与问卷调查。
澳大利亚和爱尔兰的地区及三级医院、澳大利亚的私立和社区临床医生。
在澳大利亚招募儿科医生和肾病科医生，在爱尔兰招募儿科医生，招募工作是多方面的。带有调查链接的电子邮件通过培训机构、高级实习医生网络、部门负责人和专业协会进行传播。
对视觉解释工具的理解、参与度和看法。
大多数接受调查的临床医生（澳大利亚组95%（53人），爱尔兰组100%（29人））认为基因组学在他们的临床实践中会是一个有用的工具。77%的澳大利亚儿科受访者和73%的爱尔兰儿科受访者认为基因组学未得到充分利用。基因检测遇到挑战包括患者对检测过程和结果理解不佳，以及临床医生在解释复杂结果时遇到困难。89%的接受调查的澳大利亚儿科医生和100%的爱尔兰儿科医生会向该领域的其他专业人员推荐使用该解释工具。
这种基因组资源为临床医生所接受，并且可能成为支持儿科医生将基因检测纳入主流医疗的有用工具。
