Australian Genomics, Genomics in Society, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Department of Paediatrics, The University of Melbourne Faculty of Medicine Dentistry and Health Sciences, Parkville, Victoria, Australia.
BMJ Open. 2021 Jul 9;11(7):e044408. doi: 10.1136/bmjopen-2020-044408.
Even as genomic medicine is implemented globally, there remains a lack of rigorous, national assessments of physicians' current genomic practice and continuing genomics education needs. The aim of this study was to address this gap.
A cross-sectional survey, informed by qualitative data and behaviour change theory, to assess the current landscape of Australian physicians' genomic medicine practice, perceptions of proximity and individual preparedness, and preferred models of practice and continuing education. The survey was advertised nationally through 10 medical colleges, 24 societies, 62 hospitals, social media, professional networks and snowballing.
409 medical specialists across Australia responded, representing 30 specialties (majority paediatricians, 20%), from mainly public hospitals (70%) in metropolitan areas (75%). Half (53%) had contacted their local genetics services and half (54%) had ordered or referred for a gene panel or exome/genome sequencing test in the last year. Two-thirds (67%) think genomics will soon impact their practice, with a significant preference for models that involved genetics services (p<0.0001). Currently, respondents mainly perform tasks associated with pretest family history taking and counselling, but more respondents expect to perform tasks at all stages of testing in the future, including tasks related to the test itself, and reporting results. While one-third (34%) recently completed education in genomics, only a quarter (25%) felt prepared to practise. Specialists would like (more) education, particularly on genomic technologies and clinical utility, and prefer this to be through varied educational strategies.
This survey provides data from a breadth of physician specialties that can inform models of genetic service delivery and genomics education. The findings support education providers designing and delivering education that best meet learner needs to build a competent, genomic-literate workforce. Further analyses are underway to characterise early adopters of genomic medicine to inform strategies to increase engagement.
尽管全球范围内都在实施基因组医学，但仍缺乏对医生当前基因组实践和持续基因组教育需求的严格、全国性评估。本研究旨在填补这一空白。
一项横断面调查，以定性数据和行为改变理论为依据，评估澳大利亚医生当前基因组医学实践、对接近程度和个体准备情况的看法以及首选实践和继续教育模式。该调查通过 10 所医学院、24 个学会、62 家医院、社交媒体、专业网络和滚雪球方式在全国范围内进行宣传。
来自澳大利亚各地 30 个专业（多数为儿科医生，占 20%）的 409 名医学专家做出了回应，他们主要来自大都市区（75%）的公立医院（70%）。有一半（53%）人联系过当地的遗传服务部门，有一半（54%）人在过去一年中订购或推荐了基因面板或外显子/基因组测序检测。三分之二（67%）的人认为基因组学很快将对他们的实践产生影响，他们非常倾向于涉及遗传服务的模式（p<0.0001）。目前，受访者主要执行与检测前家族史采集和咨询相关的任务，但更多的受访者预计未来将在检测的所有阶段执行任务，包括与检测本身以及报告结果相关的任务。尽管有三分之一（34%）的人最近接受了基因组学教育，但只有四分之一（25%）的人认为自己有能力实践。专家们希望（更多）教育，特别是关于基因组技术和临床效用方面的教育，并希望通过各种教育策略来获得教育。
这项调查提供了来自广泛医生专业的数据分析，可以为遗传服务提供模式和基因组教育提供信息。研究结果支持教育提供者设计和提供最能满足学习者需求的教育，以培养有能力、精通基因组学的劳动力。正在进行进一步的分析以确定基因组医学的早期采用者，为增加参与度提供策略。
