Incorporating expanded genetic screening into CF Newborn Bloodspot Screening

Changes to newborn screening for cystic fibrosis (CF)in the UK, to include next generation sequencing(NGS), could help avoid (i) repeat testing and (ii)reporting carriers. Depending on how these areimplemented, it could either increase identification ofscreen positive cases, including those with an uncertainoutcome (termed CF screen positive inconclusivediagnosis, CFSPID), or increase specificity, reducingthe identification of CFSPID, but at the cost of misseddiagnoses of true CF. This project explored views ofvarious stakeholders on these proposed changes.Findings indicated a preference for a more sensitiveapproach to NGS that reduced the risk of CF casesbeing missed.

About the speaker

Dr Chudleigh is a registered children’s nurse. Herpost-doctoral work was undertaken with the LondonCystic Fibrosis Collaboration; this developed herinterest in newborn bloodspot screening and cysticfibrosis. Dr Chudleigh is currently leading theevaluation of SCID screening in England.

About the seminar series 

The Cicely Saunders Institute Open Seminar Series events are free to attend.

This seminar is worth CPD (1 credit) pending from the Royal College of Physicians.

The series aim is to optimise opportunities for local, national and international networking within palliative care and rehabilitation. We facilitate seminars to assist in improving practice, education and policy, and the integration of research and clinical endeavours.