NCT06299566

Perceptions of the CF Screening Protocol Incorporating NGS

Exploring Perceptions on the Proposed Cystic Fibrosis Screening Protocol Incorporating Next Generation Sequencing

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 150 (actual)
• Sponsor: King's College London · Academic / Other
• Sex: All
• Age: 10 Years – 99 Years
• Healthy volunteers: Accepted

Summary

Newborn bloodspot screening (from now on referred to as screening) for cystic fibrosis (CF) became part of the national screening programme in 2007. Screening for CF is also well established internationally. The current process works well but has some disadvantages: carrier reporting - which is not the intention of CF screening in the UK (\~200 pa); need for repeat samples which can be costly and contribute to parental worry (\~300 pa.); mutation panels not fully reflecting the ethnic diversity of the birth population; identification of children designated as CF screen positive, inconclusive diagnosis (CFSPID) which can cause uncertainty (\~20-30 pa). A trial of NGS in one centre in the UK, for one year found that it was technically feasible at reasonable cost and with an acceptable turn around time. In addition, the trial determined that using NGS could mitigate against some of the disadvantages described above. The purpose of this piece of work was to: 1. Gather, compare and analyse the views of a range of stakeholders on the proposed CF screening protocol incorporating NGS. 2. Use the outcomes to inform discussions and decisions by the fetal, maternal and child health (FMCH) group and UK National Screening Committee (NSC) about the proposed protocol 3. Consider what generalisable information on the views of stakeholders on newborn screening could be generated from this exercise to inform other FMCH and UK NSC discussions 4. Evaluate and learn from the exercise to inform future stakeholder engagement activities by the UK NSC and screening programmes.

Conditions

• Cystic Fibrosis

Timeline

• Start date: 2022-01-19
• Primary completion: 2023-02-28
• Completion: 2023-02-28
• First posted: 2024-03-08
• Last updated: 2024-03-08

Locations

1 site across 1 country: United Kingdom