Newborn screening – BMJ award finalists

A prevention category featured in this years BMJ awards and the CLAHRC supported Newborn Screening was short-listed.     We didn’t win but there was some worthy opposition and it was a great experience.

The project demonstrated that the number of patients identified with five inherited metabolic disorders was in line with expectations and crucially that the positive predictive value of screening was better than anticipated.   All patients identified were placed on treatment within the agreed metric (day 17 of life) and in all cases this was earlier than would have been the case without screening avoiding severe disability or even death in the thirty, true positive cases detected.

To read about the other finalists, please click here.

Written by Professor Jim Bonham

The team (Anupam Chakrapani, Jim Bonham, Christine Cavanagh)

Family planning decisions for parents of children with a rare genetic condition research project (DECIGEN)

Newborn screening is offered to all parents in the UK.  It involves obtaining a heel prick blood sample from a baby in the first few days of life to detect treatable conditions which are not clinically evident in the newborn period.  The newborn screening blood spot test was introduced in the UK in 1969, to detect the metabolic disorder, Phenylketonuria (PKU).   Since then, the screening programme has been expanded to include other conditions such as the metabolic disorder medium-chain acyl-CoA dehydrogenase deficiency(MCADD) which was added to the programme in 2004.

Most recently, a pilot programme of expanded newborn screening which was undertaken as part of the CLAHRC South Yorkshire resulted in four additional metabolic conditions being included in the national programme from January 2015.

Screening for rare metabolic conditions in the first few days of life offers substantial health benefits as parents can manage the condition in a preventative way and intervene early when they spot the early signs that might suggest a possible health crisis. However, there are challenges associated with this for parents in terms of how they manage the condition within the context of their family situation. A detailed understanding of those challenges equips NHS staff with the knowledge necessary to ensure the support they provide is appropriate to meet the parents' needs. The DECIGEN project has been developed to identify challenges faced by parents of children with rare genetic conditions and how they respond to those challenges. Results from the project will be available in June 2016. 

Written by Hilary Piercy & Katarzyna Machaczek