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为儿童申请资助基因检测的儿科医生所面临的机遇与挑战。

Opportunities and challenges for paediatricians requesting funded genomic tests for children.

作者信息

Dawson-McClaren Belinda, Martyn Melissa, Ince Jessica, Jan Alli, Brown Natasha J, Fahey Michael C, Crellin Erin, Gaff Clara

机构信息

Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

出版信息

Eur J Hum Genet. 2025 May 7. doi: 10.1038/s41431-025-01864-3.

Abstract

Genomic diagnosis for children with childhood syndromes can inform treatment, management and reproductive planning. Shortages in the clinical genetics workforce mean that practices are changing, with paediatricians likely requesting initial genomic investigations and clinical genetics services reserved for particularly complex cases or post-test genetic counselling. In Australia, paediatricians can request funded genomic testing for patients, yet ordering rates are less than a quarter predicted. Using a theory-informed approach, we aimed to understand barriers and enablers to general paediatricians' practice as the essential first step in developing complex interventions to support clinical practice. Maximum variation sampling was used to invite general paediatricians to complete a semi-structured interview. The interview guide used a process map of the steps involved in ordering funded genomic tests, with questions addressing the components of the Capability, Opportunity, Motivation - Behaviour (COM-B) model and the Theoretical Domains Framework. Twenty-six general paediatricians with diverse practice experience participated. Paediatricians described barriers related to capability, opportunity and motivation. Intuitive strategies general paediatricians suggested to overcome barriers aligned with theoretical strategies to implement practice change. These included: raising awareness using avenues paediatricians already access for clinical information; providing opportunities for experiential learning to build on foundational knowledge; having practical resources in one easily accessible location; family-friendly information materials to share with patients. This study provides evidence to inform a roadmap of strategies to effectively support general paediatricians in incorporating genomics into their practice and ultimately delivering faster, more equitable genomic medicine.

摘要

对患有儿童综合征的儿童进行基因组诊断可为治疗、管理和生殖规划提供依据。临床遗传学工作人员的短缺意味着实践正在发生变化,儿科医生可能会要求进行初步的基因组调查,而临床遗传学服务则保留给特别复杂的病例或检测后遗传咨询。在澳大利亚,儿科医生可以为患者申请资助的基因组检测,但订购率低于预期的四分之一。我们采用理论指导方法,旨在了解普通儿科医生实践中的障碍和促进因素,这是制定支持临床实践的复杂干预措施的关键第一步。采用最大差异抽样邀请普通儿科医生完成半结构化访谈。访谈指南使用了订购资助基因组检测所涉及步骤的流程图,问题涉及能力、机会、动机 - 行为(COM-B)模型和理论领域框架的组成部分。26名具有不同实践经验的普通儿科医生参与了访谈。儿科医生描述了与能力、机会和动机相关的障碍。普通儿科医生建议的克服障碍的直观策略与实施实践变革的理论策略一致。这些策略包括:利用儿科医生已经获取临床信息的途径提高认识;提供体验式学习机会以巩固基础知识;在一个易于访问的位置提供实用资源;提供便于家庭使用的信息材料与患者分享。本研究提供了证据,为有效支持普通儿科医生将基因组学纳入其实践并最终提供更快、更公平的基因组医学的策略路线图提供参考。

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