PREVUES pilot study
Research type
Research Study
Full title
Prenatal Research to Evaluate stakeholder Views and improve Understanding of Early Screening for monogenic conditions: The PREVUES pilot study
IRAS ID
350225
Contact name
Lyn Chitty
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS Foundation Trust
Duration of Study in the UK
1 years, 1 months, 31 days
Research summary
The technology underpinning routine prenatal sequencing in the NHS Genomic Medicine Service is changing from exome to genome sequencing. Analysis will initially follow a panel-based approach that only looks for gene variants known to be associated with fetal anomalies identified by ultrasound. Using genome sequencing will allow scientists to look at the genome in more detail, including the non-coding areas, and is expected to increase diagnostic yield. The change to genome sequencing also allows the opportunity to consider alternative approaches to analysis involving open or ‘agnostic’ analysis of the whole genome. This has the potential to allow parents to have the choice of whether and when to receive other findings such as looked for additional findings or a curated list of monogenic conditions that could incorporate both “prenatal actionable findings” where fetal therapies are available and “neonatal actionable findings” which would include disorders with severe, treatable, early-onset phenotypes. In this study we will gather parent and professional views on offering additional findings using interviews and focus groups. We will use the findings to inform a pilot study where additional findings will be offered to parents eligible for prenatal sequencing in the NHS Genomic Medicine Service. Finally, we will interview parents and professionals who took part in the pilot study to gain an in-depth understanding of their experiences.
REC name
East of England - Essex Research Ethics Committee
REC reference
25/EE/0102
Date of REC Opinion
21 May 2025
REC opinion
Further Information Favourable Opinion