Pediatric Perspective on Pharmacogenomics

Adam Stevens; Chiara De Leonibus; Daniel Hanson; Andrew Whatmore; Philip Murray; Rachelle Donn; Stefan Meyer; Pierre Chatelain; Peter Clayton


Pharmacogenomics. 2013;14(15):1889-1905. 

In This Article

Abstract and Introduction


The advances in high-throughput genomic technologies have improved the understanding of disease pathophysiology and have allowed a better characterization of drug response and toxicity based on individual genetic make up. Pharmacogenomics is being recognized as a valid approach used to identify patients who are more likely to respond to medication, or those in whom there is a high probability of developing severe adverse drug reactions. An increasing number of pharmacogenomic studies are being published, most include only adults. A few studies have shown the impact of pharmacogenomics in pediatrics, highlighting a key difference between children and adults, which is the contribution of developmental changes to therapeutic responses across different age groups. This review focuses on pharmacogenomic research in pediatrics, providing examples from common pediatric conditions and emphasizing their developmental context.


The use of genetic information has played a major role in the development of personalized medicine, selecting the best medicine at the right dose with the lowest risk of side effects.[1] Pharmacogenomics is defined as "the study of the variability of the expression of individual genes relevant to the disease susceptibility as well as drug response at cellular, individual or population level".[2] Pharmacogenomic research provides a method for potentially identifying patients who are likely to respond to medication and/or those in whom there is a high probability of developing severe adverse drug reactions (ADRs).[3]

The drug regulatory agencies, US FDA and EMA, recommend the use of pharmacogenomics in drug development and have begun to build up a common approach. Furthermore, both FDA officials and EMA committee members recently expressed the view that pharmacogenomics, unlike other forms of genetic testing, does not present any special ethical or social concerns.[4] The aim of the regulatory agencies is the development of international policies and standards to assist in guiding and promoting the adoption of pharmacogenomics.

An increasing number of studies are being published that describe differences in drug response as a result of individual genetic background, but most of these reports include only adult individuals. Only a few studies have shown the impact of pharmacogenomics in pediatrics and have highlighted important differences between children and adults. A major issue is the relative contribution of ontogeny and genetic variation to therapeutic response across different age groups and developmental stages, which range through newborns, infants, children and adolescents.[5–7] The normal background of child development over which pediatric conditions arise adds a complexity to pharmacogenomic study that is superimposed upon genetic variation.[7] In addition, several diseases are more prevalent in children or have no adult correlate, and some ADRs are unique or occur at a higher frequency in children.[1,8]

The aim of this review is to focus on pediatric pharmacogenomics, highlighting the impact of child development and the importance of this approach in clinical practice.