ABSTRACT

This chapter describes the scientific research strategies in the emerging field of functional genomics and the way in which investigators are using biological sample collections, geneological data and personal medical information to hunt for gene-disease associations. Public policy with respect to the patenting of human genes appears to be in a state of confusion. The field of human genetics research is marked by a very tight linkage between academia and industry. Many publicly funded research projects end up being commercially exploited, and this is encouraged by public policy. The starting point for most research aimed at identifying diseases which have an inherited component are studies of families or small groups where there is evidence of a higher than average incidence of a particular condition. The research required to link gene sequences to particular biological functions or diseases is complex and involves a series of steps.