可视化基因组解释器的设计与评估:一项混合方法研究。

IF 4.3 3区 医学 Q1 PEDIATRICS Archives of Disease in Childhood Pub Date : 2024-10-23 DOI:10.1136/archdischild-2024-327650
Grainne Butler, Camilla Andersen, Jim Buttery, Asheeta Gupta, Melissa M Martyn, Zornitza Stark, Ella Wilkins, Kushani Jayasinghe, Catherine Quinlan
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引用次数: 0

摘要

目的设计并评估一个可视化基因组解释器,重点是使用通俗易懂的语言和引人入胜的图像。解释器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,促进将基因组检测纳入主流医疗:设计:前瞻性基因组资源开发和问卷调查:环境:澳大利亚和爱尔兰的地区医院和三级医院,澳大利亚的私人和社区临床医生:澳大利亚的儿科医生和肾病学家以及爱尔兰的儿科医生的招募是多方面的。带有调查链接的电子邮件通过培训机构、进修生网络、科室主任和专业协会分发:主要结果测量指标:对视觉讲解器的理解、参与度和感知:大多数接受调查的临床医生(95%(53 名)澳大利亚人,100%(29 名)爱尔兰人)认为基因组学将成为他们实践中的有用工具。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。基因组检测遇到的挑战包括病人对检测过程和结果理解不透,以及临床医生在解释复杂结果时遇到困难。89%的受访澳大利亚儿科医生和100%的受访爱尔兰儿科医生会向其领域的其他专业人员推荐使用解释器:临床医生可以接受这种基因组资源,它可以成为支持儿科医生将基因组检测纳入主流医疗的有用工具。
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Design and evaluation of a visual genomic explainer: a mixed-methods study.

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.

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来源期刊
CiteScore
5.80
自引率
3.80%
发文量
291
审稿时长
3-6 weeks
期刊介绍: Archives of Disease in Childhood is an international peer review journal that aims to keep paediatricians and others up to date with advances in the diagnosis and treatment of childhood diseases as well as advocacy issues such as child protection. It focuses on all aspects of child health and disease from the perinatal period (in the Fetal and Neonatal edition) through to adolescence. ADC includes original research reports, commentaries, reviews of clinical and policy issues, and evidence reports. Areas covered include: community child health, public health, epidemiology, acute paediatrics, advocacy, and ethics.
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