How is the pharmaceutical industry using genome-wide association studies (GWAS)?
Roses: Genome wide screening for pharma will be most important in confirming candidate gene variants that differentiate patients with efficacy, using the particular end-points of the clinical trial. This is most important at the critical proof-of-concept (POC) step. Let’s say a molecule has made it through preclinical safety and first time in humans. The first efficacy indication would come from a small Phase IIA trial, then a larger Phase IIB proof of efficacy trial. During these smaller trials, an extensive list of polymorphisms from candidate genes, immunological genes and HLA antigens would be tested for possible associations. At this early stage, genome wide screening—and correction for the number of tests performed—would not be productive. The candidate list is small and more focused. The efficacy PGX experiment is designed to compare patients who met the proposed clinical endpoints against patients who did not. In this way early hypotheses could be incorporated into Phase III re
