Optimal therapy for rare disorders and genetic diseases: ethical and political challenges

Abstract

Almost 40 years have passed since pediatrician-pharmacologist Harry Shirkey coined the term 'therapeutic orphans'. His intent was to describe the plight of children deprived of appropriate drugs for the treatment of common conditions and of adequate information to support effective prescribing. Awareness has since grown of the extent to which children are denied information to support optimal drug prescribing, and legislation has now been introduced in the US and the European Community to foster expanded therapeutic investigation in pediatrics. It has also been recognized that the therapeutic orphan concept may be applied more widely in a context that goes well beyond pediatrics to include, not just a patient population which has been orphaned, but also diseases and rare disorders for which effective therapeutic interventions may be lacking.