Newborn mass screening versus selective investigation: Benefits and costs

Cost-benefit analysis of newborn screening has an unimpressive record and y et it is still regarded as an important decision tool. This workshop survey ed ongoing research into the costs and benefits of systematic whole-populat ion screening, as opposed to selective investigation of symptomatic patient s, for inherited metabolic disease. Much current interest is focused on new born screening by tandem mass spectrometry, which can replace current metho ds for detecting phenylketonuria and cover a much wider range of diseases. Two observational studies are comparing cost-effectiveness of tandem mass s pectrometry screening versus symptomatic diagnosis in either concurrent or historical control populations. A number of other studies are assessing scr eening performance against predetermined criteria but without any formal co ntrol group. Medium-chain acyl-CoA dehydrogenase deficiency is the most com mon of the additional diseases being detected and it seems that octanoylcar nitine in blood is a particularly sensitive indicator: some of the cases de tected by screening have genotypes suggesting a relatively low risk of seri ous metabolic decompensation. Ongoing studies should provide further quanti tative and qualitative data but will not in themselves define the optimum b alance between screening sensitivity and specificity.