Newborn screening for lysosomal storage disorders: Ethical and technical considerations

Over recent years, significant progress has been made in the development of therapeutic options for lysosomal storage disorders. Currently, there are therapy options, either approved or in clinical trials, for over 75% of patients. The effectiveness of these therapies, particularly for those disorders involving central nervous system and bone pathologies, will rely heavily upon the early diagnosis and commencement of treatment, before the onset of irreversible pathology. In the absence of a family history, the only practical way to identify patients presymptomatically is through a newborn screening program. In this review, the ethical and technical issues associated with such a program are discussed.