Pharmacogenetics and disease genetics of complex diseases

Advances in technologies and the availability of a single nucleotide polymorphism (SNP) map are beginning to show the true potential for the human genome project to affect patient healthcare. A whole genome scan, the use of 100,000–300,000 SNPs across the genome, is now possible. Use of traditional approaches and the whole genome scan will result in identification of disease susceptibility genes and development of many new treatments in the longer term. In the shorter term, the goal will be to predict those patients at risk to experience an adverse reaction or those with a high probability for improved efficacy (i.e. pharmacogenetics). As progress is made in the area of disease genetics and pharmacogenetics, our understanding of disease susceptibility and its interrelationship with drug response will improve, making targeted therapy (i.e. the right drug to the right patient) a reality.Received 19 December 2002; received after revision 14 February 2003; accepted 20 February 2003