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)
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