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两步式机会性基因组筛查模型的评估。

Evaluation of a two-step model of opportunistic genomic screening.

机构信息

Melbourne Genomics Health Alliance, Parkville, VIC, 3052, Australia.

Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.

出版信息

Eur J Hum Genet. 2024 Jun;32(6):656-664. doi: 10.1038/s41431-024-01592-0. Epub 2024 Mar 25.

Abstract

Increasing use of diagnostic genomic sequencing is pushing health services to confront the issue of opportunistic genomic screening (OGS). To date, OGS has been offered concomitant with diagnostic testing. In contrast, we piloted a service offering OGS after return of diagnostic testing results. Evaluation was designed to provide insights for future models of service and included patient surveys at three time points, semi-structured interviews with genetic counsellors (GCs) and a focus group with medical scientists. Uptake was relatively low: 83 of 200 patients approached (42%) attended the OGS service, with 81 accepting OGS. Whilst many who declined to attend the service cited practical barriers, others gave reasons that indicated this was a considered decision. Despite specific genetic counselling, one third of patients did not understand the scope of re-analysis. Yet after post-test counselling, all respondents with novel pathogenic additional findings (AF) understood the implications and reported relevant follow-up. Recall was high: five months after last contact, 75% recalled being offered OGS without prompting. GC interviews and patient survey responses provide insights into complexities that influence patient support needs, including diagnostic status and AF result type. There was no consensus among patients or professionals about when to offer OGS. There was a clear preference for multiple, flexible methods of information provision; achieving this whilst balancing patient support needs and resource requirements is a challenge requiring further investigation. Decisions about whether, when and how to offer OGS are complex; our study shows the two-step approach warrants further exploration.

摘要

诊断基因组测序的使用日益增多,促使医疗服务部门不得不面对机会性基因组筛查(OGS)的问题。迄今为止,OGS 是与诊断性检测同时提供的。相比之下,我们试点了一种在诊断性检测结果返回后提供 OGS 的服务。该评估旨在为未来的服务模式提供参考,并包括在三个时间点对患者进行调查、对遗传咨询师(GC)进行半结构化访谈以及对医学科学家进行焦点小组讨论。参与度相对较低:200 名被邀请的患者中有 83 名(42%)参加了 OGS 服务,其中 81 名接受了 OGS。虽然许多拒绝参加该服务的人提到了实际障碍,但其他人的理由表明这是一个深思熟虑的决定。尽管进行了专门的遗传咨询,仍有三分之一的患者不了解重新分析的范围。然而,在检测后咨询后,所有有新的致病性附加发现(AF)的受访者都理解了其含义并报告了相关的随访情况。召回率很高:在最后一次联系后的五个月,75%的受访者在没有提示的情况下回忆起曾被提供 OGS。GC 访谈和患者调查结果提供了对影响患者支持需求的复杂性的见解,包括诊断状况和 AF 结果类型。患者和专业人员之间对于何时提供 OGS 没有共识。对于提供信息的多种灵活方法,患者和专业人员都有明确的偏好;在平衡患者支持需求和资源需求的同时实现这一目标是一个需要进一步研究的挑战。是否、何时以及如何提供 OGS 的决定是复杂的;我们的研究表明,两步法值得进一步探索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f1a2/11153562/daf3b4ea7b20/41431_2024_1592_Fig1_HTML.jpg

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