Rare diseases have become an increasingly important public health priority due to their collective prevalence. While the approval of orphan drugs requires supportive data from stringent pre-market studies, these data lack the ability to describe the causes of treatment response heterogeneity. Investigation of the pharmacogenomics can potentially lead to the development of new therapeutics, help inform rational use criteria in drug policy, and improve the understanding of underlying disease pathophysiology. In the context of rare diseases where cohort sizes are smaller than ideal, ‘small data’ and ‘big data’ approaches to data collection and analysis should be combined to produce the most robust results. This article presents the importance of studying drug response in parallel to other research initiatives in rare diseases, as well as the need for international collaboration in the area of rare disease pharmacogenomics. Read the full article here.
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