Abstract
Background: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies has been implemented nationally in England through the NHS Genomic Medicine Service that 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: We are conducting a mixed-methods evaluation of the NHS prenatal ES service. Study design draws on a framework developed in previous studies of major system innovation and Normalisation Process Theory. 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 at all GLHs. Data collection at multiple time points will track changes over time. In Workstream-2 qualitative interviews with parents offered prenatal ES or with previous experience of fetal anomalies 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.
Highlights
Fetal anomalies occur in approximately 2–5% of pregnancies and cause around 20% of perinatal deaths[1,2]
Study methods The aim of this study is to evaluate the prenatal exome sequencing service
The Exome Prenatal Sequencing Services (EXPRESS) study will inform the evolution of a prenatal exome sequencing (ES) service that delivers equity of access and high standards of care across England with an associated improvement in prenatal diagnostic services and benefits for parents
Summary
Fetal anomalies occur in approximately 2–5% of pregnancies and cause around 20% of perinatal deaths[1,2]. In this workstream we will establish the outcomes (diagnostic yield, referral rates, sources of referral, final diagnoses) of the prenatal ES service over a nine month period These outcomes will be compared across regions to identify any factors (individual or service-related) associated with variation in outcomes between GLHs. At the point of being consented for prenatal ES, parents will be asked to allow their data to be used for research purposes. Using an approach we have used in similar studies[37,38], the analysis will proceed in the following stages: 1) We will delineate the pathways for prenatal diagnosis of fetal anomalies using prenatal ES, from referral for testing until birth outcome This will be done for each of the seven GLHs and the optimal pathway, and will be based on data collected during Workstream-1. A policy report that will describe the facilitators and barriers to optimal service delivery and deliver recommendations for best practice
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