ABSTRACT
The key issues discussed in this chapter are fundamental at all stages and in every type of screening, and are closely interrelated. Genetic screening is an area that has developed rapidly in recent years with the mapping of the human genome. Information that is balanced, understandable and properly communicated to those invited to undergo screening in any context is an essential part of obtaining truly informed consent. And the economics of screening must be examined in a health service where demand, whether justified or unjustified, is always going to exceed available resources. Since these tests and the treatment or follow-up that may be needed usually require a great deal of resources – human, technical and financial. The central issue in genetic screening – by which one mean the identification of inherited disorders that have significant consequences for the individual and/or family members – is whether there is anything distinctive in this process compared with other forms of non-genetic screening.
