Newborn screening for inborn errors of metabolism

Newborn screening is a process that is designed to detect and alter the natural history of conditions that would otherwise cause significant morbidity or mortality within a population. As technology has advanced and enabled an ever greater number of conditions to be screened for, decisions as to which conditions should be included in newborn screening programmes has become increasing difficult with widely varying practises across the globe. In the UK newborn screening hopes to identify five conditions, two of which are inborn errors of metabolism. Commencing in 2015, a further four inborn errors of metabolism will be included in the national screening programme after completion of a 2 year pilot study. The UK screening programme is regulated by the Department of Health through the National Screening Committee (UK NSC) and clear recommendations exist regarding management and follow-up of positive screen results. The future of newborn screening is becoming increasingly interesting and controversial, in particular with the introduction of pilot schemes in the US that are evaluating the use of whole exome/genome sequencing from newborn blood spots.