Neonatal screening programs: Should parents be given a choice of screening options?

Since decades, neonatal screening has been considered an uncontroversial public health programme. Most industrialised countries screen for some diseases like phenylketonuria (PKU) and congenital hypothyroidism. These conditions can be relatively well treated, either in the form of dietary restrictions, or by supplementing the children with the substances (hormones) of which they are deficient. With introduction of tandem mass spectrometry as method in population based newborn screening, it is now possible to detect a large number of disorders in a single process by using the same dried blood spot specimen collected through routine newborn screening. This implies that screening programmes can be expanded at relatively little cost. In some countries, like the Netherlands, the screening program is expanded but only with diseases that are relatively well treatable, like MCAD deficiency and homocystinuria. Some professionals and patient groups argue however that parents must be given the right to receive information about other (non-treatable) diseases as well. Early detection of such diseases (e.g. Duchenne muscular dystrophy) will not improve a child's prognosis, but the information can still be very important for parents, and it can be easily retrieved from the mass spectrometer. This paper explains the moral implications of such a policy, and argues that giving all parents a choice of screening options, including screening for untreatable conditions, may undermine the newborn screening program. Interestingly, giving parents a choice may be a paternalistic policy that can hardly be justified.