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.
Study Type
OBSERVATIONAL
Enrollment
150
King's College London
London, United Kingdom
Focus groups/interviews/questionnaires exploring stakeholder views of the proposed CF screening protocol incorporating NGS.
Focus groups/interviews/questionnaires exploring stakeholder views, experiences and conceptualized harms/benefits in relation to the proposed CF screening protocol incorporating NGS
Time frame: February 2023
Focus groups/interviews/questionnaires exploring stakeholder views on equivocal, carrier, false positives/negatives results, late onset/uncertain conditions
Focus groups/interviews/questionnaires exploring stakeholder views on equivocal, carrier, false positives/negatives results, late onset/uncertain conditions identified early in life (infertility, potential CF), missed CF diagnoses, as well as the way these outcomes are prioritised and ordered when considering NGS for CF NBS
Time frame: February 2023
Q sorts used to develop data and materials FMCH and UK NSC can use to engage stakeholders
Q sorts used to develop data and materials FMCH and UK NSC can use to engage stakeholders more widely with discussions about a) the proposed protocol, and b) wider use of genomic testing in NBS
Time frame: February 2023
Surveys to explore principles of engagement for stakeholders
Surveys to explore principles of engagement for this population, building on the 'golden rules' but with context specific guidance under each that can be used in future commissioning
Time frame: February 2023
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