Since the human genome was published in 2001, we have been talking about the potential application of this knowledge to personalized medicine, and in the last couple of years, we seem at last to be approaching this goal.
A better understanding of the molecular basis of diseases is key to development of personalized medicine across pharmaceutical R&D, as was discussed last year by Janet Woodcock, Director of the FDA’s Center for Drug Evaluation and Research (CDER).
FDA CDER has been urging adoption of pharmacogenomics strategies and pursuit of targeted therapies for a variety of reasons. These include the potential for decreasing the variability of response, improving safety, and increasing the size of treatment effect, by stratifying patient populations.
Pharmacogenomics is the study of the role an individual’s genome plays in drug response, which can vary from adverse drug reactions to lack of therapeutic efficacy. With the recent explosion in sequence data from next generation sequencing (NGS) technologies, one of the bottlenecks in application of genomic variation data to understanding disease is access to annotation.
From NGS workflows, scientists can quickly identify long lists of candidate genes that differ between two conditions (case-control, or family hierarchies, for example). Gene annotations are essential to interpret these gene lists and to discover fundamental properties like gene function and disease relevance.