Griffiths Rachel, Lewis Celine
School of Medicine, Cardiff University, Cardiff, UK.
Population, Policy and Practice Department, UCL GOS Institute of Child Health, London, UK
BMJ Paediatr Open. 2025 Apr 10;9(1):e003286. doi: 10.1136/bmjpo-2024-003286.
The National Health Service in the UK is the first national healthcare system to offer genomic sequencing for rare disease diagnosis as routine care. Non-genetic medical specialists, including paediatricians, can now request genomic testing for certain clinical indications. The primary purpose of this study was to evaluate the preparedness and confidence of paediatricians providing genomic sequencing in England. In addition, we assessed current practice, perceived utility of testing, barriers and enablers, prior genomics education and training preferences.
A 26-item electronic survey for completion by paediatric specialists. Participants were recruited through national associations and a conference. Quantitative items were analysed using descriptive and inferential statistics. Open-ended question responses were analysed by qualitative content analysis.
157 responses were included in the analysis. Only 49.0% reported feeling prepared for mainstreaming despite 75.0% reporting they had requested testing in the past 12 months, 47.7% indicating they had returned genomic sequencing results and 67.1% feeling genomic testing was useful. Mean confidence scores were lowest for tasks including using human phenotype ontology terminology on test request forms (3.9/10), interpreting genomic test results (4.8/10), discussing complex genomic results with patients and families (4.3/10) and integrating test results into patient care (4.7/10). Significantly higher average ranked genomic confidence was identified among those who had requested testing in the last 12 months compared with those who had not (Z=5.063, p<0.001, r=0.412). The most frequent barriers to mainstreaming were lack of training and knowledge (43.3%), determining patient eligibility (28.0%), lack of time (27.4%) and confidence (25.5%). Webinars (48.4%), followed by continued professional development meetings and/or conferences (38.9%), were the preferred mode of training.
Our data suggest that preparedness and confidence among paediatricians in genomics is currently lacking. Support from clinical genetics services, simplified referral forms and webinar training sessions could improve current practice.
英国国民医疗服务体系是首个将基因组测序用于罕见病诊断作为常规医疗服务的国家医疗体系。包括儿科医生在内的非基因医学专家现在可以根据某些临床指征要求进行基因组检测。本研究的主要目的是评估英格兰提供基因组测序的儿科医生的准备情况和信心。此外，我们评估了当前的实践、检测的感知效用、障碍和促进因素、先前的基因组学教育和培训偏好。
一项由儿科专家完成的包含26个项目的电子调查问卷。通过全国性协会和一次会议招募参与者。使用描述性和推断性统计分析定量项目。通过定性内容分析对开放式问题的回答进行分析。
157份回复纳入分析。尽管75.0%的人报告在过去12个月内曾要求进行检测，47.7%的人表示他们已返回基因组测序结果，67.1%的人认为基因组检测有用，但只有49.0%的人报告感觉为将其纳入主流医疗做好了准备。在包括在检测申请表上使用人类表型本体术语（3.9/10）、解读基因组检测结果（4.8/10）、与患者及其家属讨论复杂的基因组结果（4.3/10）以及将检测结果整合到患者护理中（4.7/10）等任务上，平均信心得分最低。与未在过去12个月内要求进行检测的人相比，在过去12个月内要求进行检测的人在基因组信心方面的平均排名显著更高（Z = 5.063，p < 0.001，r = 0.412）。纳入主流医疗的最常见障碍是缺乏培训和知识（43.3%）、确定患者资格（28.0%）、缺乏时间（27.4%）和信心（25.5%）。网络研讨会（48.4%），其次是继续职业发展会议和/或大会（38.9%），是首选的培训方式。
我们的数据表明，目前儿科医生在基因组学方面缺乏准备和信心。临床遗传学服务的支持、简化的转诊表格和网络研讨会培训课程可能会改善当前的实践。
