优化外显子组产前测序服务（EXPRESS）：一项在英国国家医疗服务体系基因组医学服务中评估快速产前外显子组测序的研究方案。

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.

作者信息

Hill Melissa, Ellard Sian, Fisher Jane, Fulop Naomi, Knight Marian, Kroese Mark, Ledger Jean, Leeson-Beevers Kerry, McEwan Alec, McMullan Dominic, Mellis Rhiannon, Morris Stephen, Parker Michael, Tapon Dagmar, Baple Emma, Blackburn Laura, Choudry Asya, Lafarge Caroline, McInnes-Dean Hannah, Peter Michelle, Ramakrishnan Rema, Roberts Lauren, Searle Beverly, Smith Emma, Walton Holly, Wynn Sarah L, Han Wu Wing, Chitty Lyn S

机构信息

NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UK.

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.

出版信息

NIHR Open Res. 2022 Jul 18;2:10. doi: 10.3310/nihropenres.13247.2. eCollection 2022.

DOI:10.3310/nihropenres.13247.2

PMID:35935673

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7613246/

Abstract

BACKGROUND

Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). is the GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Prenatal ES has the potential to significantly improve NHS prenatal diagnostic services by increasing genetic diagnoses and informing prenatal decision-making. Prenatal ES has not previously been offered routinely in a national healthcare system and there are gaps in knowledge and guidance.

METHODS

Our mixed-methods evaluation commenced in October 2020, aligning with the start date of the NHS prenatal ES service . Study design draws on a framework developed in previous studies of major system innovation. There are five interrelated workstreams. Workstream-1 will use interviews and surveys with professionals, non-participant observations and documentary analysis to produce in-depth case studies across all GLHs. Data collection at multiple time points will track changes over time. In Workstream-2 qualitative interviews with parents offered prenatal ES will explore experiences and establish information and support needs. Workstream-3 will analyse data from all prenatal ES tests for nine-months to establish service outcomes (e.g. diagnostic yield, referral rates, referral sources). Comparisons between GLHs will identify factors (individual or service-related) associated with any variation in outcomes. Workstream-4 will identify and analyse practical ethical problems. Requirements for an effective ethics framework for an optimal and equitable service will be determined. Workstream-5 will assess costs and cost-effectiveness of prenatal ES versus standard tests and evaluate costs of implementing an optimal prenatal ES care pathway. Integration of findings will determine key features of an optimal care pathway from a service delivery, parent and professional perspective.

DISCUSSION

The proposed formative and summative evaluation will inform the evolving prenatal ES service to ensure equity of access, high standards of care and benefits for parents across England.

摘要

背景

2020年10月，英国国民健康服务体系（NHS）基因组医学服务中心（GMS）在全国范围内开展了产前外显子组测序（ES）以诊断胎儿异常情况。GMS以七个区域基因组实验室中心（GLHs）为基础。产前ES有潜力通过增加基因诊断和为产前决策提供信息，显著改善NHS的产前诊断服务。此前，产前ES在国家医疗体系中尚未常规提供，在知识和指导方面存在空白。

方法

我们的混合方法评估于2020年10月开始，与NHS产前ES服务的启动日期一致。研究设计借鉴了以往重大系统创新研究中开发的框架。有五个相互关联的工作流程。工作流程1将通过与专业人员进行访谈和调查、非参与观察以及文献分析，在所有GLHs开展深入的案例研究。多个时间点的数据收集将跟踪随时间的变化。在工作流程2中，对接受产前ES的父母进行定性访谈，以探索他们的经历并确定信息和支持需求。工作流程3将分析九个月内所有产前ES检测的数据，以确定服务结果（例如诊断率、转诊率、转诊来源）。GLHs之间的比较将识别与结果差异相关的因素（个体或服务相关）。工作流程4将识别和分析实际的伦理问题。将确定建立最佳且公平服务的有效伦理框架的要求。工作流程5将评估产前ES与标准检测相比的成本和成本效益，并评估实施最佳产前ES护理路径的成本。研究结果的整合将从服务提供、父母和专业人员的角度确定最佳护理路径的关键特征。