The role of paediatric pharmacogenetic studies in Europe

Abstract

Pharmacogenetics is a newly emerging research area confronted with obvious scientific and ethical concerns not only from an academic and social perspective, but also on a regulatory level.An overview of ongoing and planned pharmacogenetic studies is needed to evaluate the current status and focus of research and to appraise the alignment of research themes relative to the unmet medical needs of the paediatric population.The objective of this review was to explore the current status, limitations and perspectives of pharmacogenomic and pharmacogenetic clinical research in the paediatric population from an academic, regulatory and industrial perspective.Results show a rather equal distribution of activities across the different research categories throughout the world. More than 50% of the research activities are related to exploratory studies aimed at establishing the connection between a given genetic trait and the risk associated with a pathology or disease.Based on this situation, we advocate for more translational and conformational studies. Moreover, there is a strong need to give appropriate attention to the methodological requirements for clinical research, which lack the scientific and statistical rigour and make study findings unsuitable for clinical purposes and often impossible to interpret.

Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases

“…Despite the clear need for individualised medicine for paediatric patient populations, we still know very little about developmental pharmacogenomics and there have been few applications of biomarkers in the management of paediatric disease [ 19 ]. Results of a literature search conducted by the Task force in Europe for Drug Development for the Young (TEDDY) European Network of Excellence demonstrated that throughout the world more than 50% of pharmacogenomic/pharmacogenetic research activities in children during the last 10 years were related to predisposition, which means the investigation of the correlation between genetic traits and the probability of or susceptibility for a given pathology or disease [ 20 ]. These types of exploratory studies provide little or no insight into mechanisms of disease or drug action, and their results cannot be used to improve medical practice or to support therapeutic solutions.…”

“…Furthermore, the uptake of biomarkers within the drug development process requires investment and research on the part of the pharmaceutical industry. As of 2007, very few pharmaceutical companies indicated ongoing pharmacogenomic or pharmacogenetic-related research in children [ 20 ]. However, more recently an investigation performed by Tufts suggests a growing interest and investment in this area.…”