Pharmacogenomics in Children : Advantages and Challenges of Next Generation Sequencing Applications

Abstract EN

Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice.

However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice.

Several reasons can be found why the application of pharmacogenetics is less than initially anticipated, which include the contradictory results obtained for certain variants and the lack of guidelines for clinical implementation.

However, more reproducible results are being generated, and efforts have been made to establish working groups focussing on evidence-based clinical guidelines.

For another pharmacogenetic hurdle, the speed by which a pharmacogenetic profile for a certain drug can be obtained in an individual patient, there has been a revolution in molecular genetics through the introduction of next generation sequencing (NGS), making it possible to sequence a large number of genes up to the complete genome in a single reaction.

Besides the enthusiasm due to the tremendous increase of our sequencing capacities, several considerations need to be made regarding quality and interpretation of the sequence data as well as ethical aspects of this technology.

This paper will focus on the different NGS applications that may be useful for pharmacogenomics in children and the challenges that they bring on.