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成为基因组变化的推动者:当基因组学成为主流时,遗传咨询师对患者护理和实施影响的看法。

Becoming agents for genomic change: genetic counsellors' views of patient care and implementation influences when genomics is mainstreamed.

机构信息

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

Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.

出版信息

Eur J Hum Genet. 2024 Dec;32(12):1606-1614. doi: 10.1038/s41431-024-01686-9. Epub 2024 Aug 29.

Abstract

Genetic counsellors (GCs) across the world are increasingly transitioning beyond clinical genetics services to meet the growing demands for genomic healthcare. This presents a unique opportunity for GCs to be 'genomic change agents' as they work in alternative models of care. Through various innovative models of mainstream care funded through a change program, we explored the views of GCs regarding their position as 'genomic change agents' and what may hinder or drive the success of their evolving roles. Guided by the Diffusion of Innovation Theory, we conducted qualitative interviews with all twelve GCs employed by the change program in different models of providing genomics across five specialties in Australia. Audio-recordings of all interviews were transcribed verbatim and analysed using inductive content analysis. Findings show that early in these new roles, participants held varied descriptions of 'genomics mainstreaming': some envisioned it as an end state exclusive to medical specialists practicing genomics while others saw the involvement of GCs as crucial. Participants believed they were uniquely positioned to expedite patient access to genomic testing and counselling and enhance medical specialists' capability to use genomics. Challenges included hesitancy of some medical specialists regarding the value of genomics in healthcare and potential tension arising from distinct perspectives and practice between genetic and non-genetic professionals. Participants anticipated a decline in the standard of care when non-genetic colleagues managed consent discussion and result disclosure. Our study underscores leadership support and peer connection with those in similar roles as essential elements for GCs' success in mainstream settings.

摘要

世界各地的遗传咨询师(GCs)越来越多地从临床遗传学服务转向,以满足对基因组医疗保健日益增长的需求。这为 GCs 提供了一个独特的机会,使他们能够在替代护理模式中成为“基因组变革推动者”。通过通过变革计划资助的各种主流护理创新模式,我们探讨了 GCs 对其作为“基因组变革推动者”的角色的看法,以及可能阻碍或推动其不断发展的角色成功的因素。本研究以创新扩散理论为指导,对澳大利亚五个专业领域通过不同模式提供基因组学服务的变革计划中所有 12 名 GCs 进行了定性访谈。所有访谈的录音均逐字转录,并采用归纳内容分析法进行分析。研究结果表明,在这些新角色的早期,参与者对“基因组学主流化”有不同的描述:一些人将其视为医学专家从事基因组学的专属终态,而另一些人则认为 GCs 的参与至关重要。参与者认为,他们在加速患者获得基因组检测和咨询服务方面具有独特的地位,并增强了医学专家使用基因组学的能力。挑战包括一些医学专家对医疗保健中基因组学价值的犹豫,以及遗传和非遗传专业人员之间不同观点和实践可能产生的潜在紧张关系。参与者预计,当非遗传同事管理同意讨论和结果披露时,护理标准会下降。我们的研究强调了领导支持和与类似角色的同行联系对于 GCs 在主流环境中取得成功的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3818/11606944/34867130825f/41431_2024_1686_Fig1_HTML.jpg

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