Global pharmacogenomics: Where is the research taking us?

Abstract

Pharmacogenomics knowledge and technologies, which couple genomics information with pharmaceutical drug response, have been promised to revolutionise both drug development and prescription. One notable promise of pharmacogenomics is the potential to contribute to some of the Millennium Development Goals (MDGs), namely to increase justice in global health by incentivising public research laboratories and pharmaceutical companies to develop drugs for populations (e.g., in low- and middle-income countries) that have been neglected by the traditional drug development model. To evaluate the credibility of this promise, we examined – both quantitatively and qualitatively – those scientific papers indexed in PubMed and published between 1997 and 2010, with a view to describing the major orientations and tendencies characterising the development of pharmacogenomics research. Our results demonstrate that pharmacogenomics research has focused on three major non-communicable categories of disease: cancer, depression and other psychological disorders and cardiovascular and coronary heart disease. Few publications – and thus, by extension, little scientific interest – concerned orphan diseases, infectious diseases or maternal health, indicating that pharmacogenomics research over the last decade has replicated the well-known 90/10 ratio in drug development. As such, we argue that research in the field of pharmacogenomics has failed in its promise to contribute to the MDGs by reducing global health inequalities.

Keywords:

• pharmacogenomics
• public health
• ethics
• global health
• research

Acknowledgements

We would like to thank the Editors and Anonymous reviewers for their constructive comments and suggestions.

Notes

1. While often used interchangeably, ‘pharmacogenomics’ can be distinguished from ‘pharmacogenetics’ because the former is focused on the development and use of genomic information, that is, the description of characteristics of population groups with regards to drug response, whereas the latter is focused on individual genetic information, that is, individual characteristics or differences in drug response (McLeod & Evans, 2001). In practice, pharmacogenomics research has largely replaced research in pharmacogenetics, because the latter has turned out to be a far less fruitful avenue of research (e.g., few direct genotype-phenotype associations; discovery of numerous low frequency markers for drug response that nonetheless map onto identifiably population sub-groups) (Ma & Lu, 2011).