Ethical implications of expanded newborn screening

December 16, 2008

Screening newborns for certain inherited conditions is undertaken in most countries to provide a means of early identification and treatment of conditions such as phenylketonuria (PKU) and sickle cell anaemia. With the emergence of new high-throughput technologies such as tandem mass spectrometry (MS/MS), the number of conditions that can potentially be screened for has increased and is likely to expand further as genomic technologies develop. MS/MS allows for the detection and quantitation of over 20 different metabolites simultaneously, following simple sample preparation, thereby allowing screening for a number of inherited metabolic disorders to be carried out. In the US, the American College of Medical Genetics (ACMG) has recommended screening to be undertaken for a “core” panel of 29 conditions (see previous news) and 25 secondary conditions. In the UK, newborn screening has not expanded to such and extent and MS/MS is only offered for the detection of phenylketonuria (PKU) and Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD). A health and technology assessment carried out in 2004 concluded that although it could be used for screening a number of other inherited metabolic disorders, lack of evidence about the incidence of these conditions as well as the impact of screening on management of the conditions precluded their inclusion in the newborn screening programme. (PHG Foundation)