Affiliations: Leiden/Amsterdam Center for Drug Research, Leiden, The
Netherlands | Consorzio per Valutazioni Biologiche e Farmacologiche,
Pavia, Italy | Department of Biochemistry and Medical
Biotechnologies, University Federico II of Naples, CEINGE- Advanced
Biotechnologies, Naples, Italy | Azienda Ospedaliera di Padova, Padova, Italy
Note: [] Corresponding author: Adriana Ceci, Consorzio per Valutazioni
Biologiche e Farmacologiche, Via Palestro, 26 – 27100 Pavia, Italy. Tel.:
+39 0382 25075; Fax +39 0382 536544; E-mail: [email protected]
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.
