Abstract
The completion of the human genome project 10 years ago was met with great optimism for improving drug therapy through personalized medicine approaches, with the anticipation that an era of genotype-guided patient prescribing was imminent. To some extent this has come to pass and a number of key pharmacogenomics markers of inter-individual drug response, for both safety and efficacy, have been identified and subsequently been adopted in clinical practice as pre-treatment genetic tests. However, the universal application of genetics in treatment guidance is still a long way off. This review will highlight important pharmacogenomic discoveries which have been facilitated by the human genome project and other milestone projects such as the International HapMap and 1000 genomes, and by the continued development of genotyping and sequencing technologies, including rapid point of care pre-treatment genetic testing. However, there are still many challenges to implementation for the many other reported biomarkers which continue to languish within the discovery phase. As technology advances over the next 10 years, and the costs fall, the field will see larger genetic data sets, including affordable whole genome sequences, which will, it is hoped, improve patient outcomes through better diagnostic, prognostic and predictive biomarkers.
Highlights
The field of pharmacogenomics can trace its roots back to significantly earlier than the first draft publication human genome sequence in 2001 [1] and the subsequent completion in 2003
Though significant progress has been made in the field since 2003, it could be argued that pharmacogenomics has failed to live up to expectations
The completion of the first phase of the International Hapmap project [4], a catalogue of common genetic variations within individuals of diverse ethnicities, in 2003, provided a rich data resource which enabled researchers to investigate the association of variants across the human genome with a wide range of clinical phenotypes
Summary
The field of pharmacogenomics can trace its roots back to significantly earlier than the first draft publication human genome sequence in 2001 [1] and the subsequent completion in 2003. The term “Pharmacogenetics” was first coined by Friedrich Vogel in 1959 [2], just 6 years after Watson and Crick’s discovery of the structure of DNA [3]. Though significant progress has been made in the field since 2003, it could be argued that pharmacogenomics has failed to live up to expectations. A vast number of discoveries relating to genomic variability and drug response have been made in the last 10 years. The challenge remains to translate these findings into clinical practice for the benefit of the patient
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