Perceptions of the CF Screening Protocol Incorporating NGS

Focus groups/interviews/questionnaires exploring stakeholder views of the proposed CF screening protocol incorporating NGS.

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.