Genomic testing already plays a part when undertaking newborn screening for cystic fibrosis (CF) in the UK. Taking advantage of next generation sequencing, capable of recognising a wider genomic screening, can potentially offer some advantages and is technically feasible at reasonable cost but it also raises some questions about the way in which this should be used. In particular, whether the approach adopted should seek to minimise the number of children given an uncertain designation (CFSPID) or minimise the number of children with CF missed by screening?
This was the question discussed in a mini-public dialogue that took place in June 2021, commissioned by the Fetal, Maternal and Child Health (FMCH) reference group of the UK National Screening Committee (UKNSC). Working in partnership with UK Research and Innovation’s Sciencewise programme, the FMCH commissioned Hopkins Van Mil to run the mini-dialogue to explore public views on these two alternative approaches to the way in which genomic sequencing may be used.
This was a follow-on project from the Implications of Whole Genome Sequencing for Newborn Screening public dialogue, which was reported on in July 2021.
You can access the reports of the dialogue on this page, as well as a journal article published in the International Journal of Neonatal Screening.