Mackley Michael P, Agrawal Pankaj B, Ali Sara S, Archibald Alison D, Dawson-McClaren Belinda, Ellard Holly, Freeman Lucinda, Gu Yuanyuan, Jayasinghe Kushani, Jiang Shan, Kirk Edwin P, Lewis Celine, McEwen Alison, Nisselle Amy, Quinlan Catherine, Terrill Bronwyn, Tutty Erin, McNeill Alisdair
Division of Clinical & Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.
Eur J Hum Genet. 2025 Aug 22. doi: 10.1038/s41431-025-01925-7.
Genomic sequencing technologies, which include both exome and genome sequencing, as well as panels or targeted analyses using genome-wide approaches, are being implemented across healthcare. Implementation, however, varies greatly by application and jurisdiction, with a diversity of approaches being employed around the world. This review aims to summarise the current state of implementation of genomic testing in mainstream healthcare for the detection of rare disease throughout the lifespan. Through a discussion of evidence gathered to date, highlighting exemplar studies, the following applications of genomic testing will be covered: (1) routine diagnostic genomic testing in the clinic; (2) rapid diagnostic genomic testing in the intensive care unit; (3) genomic newborn screening; and, (4) reproductive genetic carrier screening. Mainstream implementation necessarily extends beyond the clinical genetics service, where genomic testing has historically been offered. Given that the involvement of non-genetics clinicians in the delivery of these technologies has important implications for models of care and education, related areas of growing evidence are also discussed: (5) genetic counsellors working outside clinical genetics services; and, (6) workforce development considerations for mainstream genomics. The diversity of approaches and examples illustrates that integration of genomic technologies into mainstream healthcare is complex and requires significant health system transformation. Efforts to evaluate services, guided by implementation science, will be essential to ensure lessons are shared across jurisdictions and benefit is delivered to patients and the system at-large.
基因组测序技术，包括外显子组测序和基因组测序，以及使用全基因组方法的基因 panel 或靶向分析，正在医疗保健领域广泛应用。然而，其应用情况因应用场景和管辖区域的不同而有很大差异，世界各地采用的方法多种多样。本综述旨在总结基因组检测在主流医疗保健中用于检测全生命周期罕见疾病的当前应用状况。通过讨论迄今收集的证据，并突出典型研究，将涵盖基因组检测的以下应用：（1）临床常规诊断基因组检测；（2）重症监护病房的快速诊断基因组检测；（3）基因组新生儿筛查；以及（4）生殖遗传携带者筛查。主流应用必然超出了传统上提供基因组检测的临床遗传学服务范畴。鉴于非遗传学临床医生参与这些技术的应用对护理模式和教育具有重要意义，还将讨论相关的、证据不断增加的领域：（5）在临床遗传学服务之外工作的遗传咨询师；以及（6）主流基因组学的劳动力发展考量。方法和实例的多样性表明，将基因组技术整合到主流医疗保健中是复杂的，需要对卫生系统进行重大变革。以实施科学为指导对服务进行评估的努力，对于确保各管辖区域分享经验教训，并使患者和整个系统受益至关重要。
