personalized medicine and pharmacogenomics: ethical and social challenges

Abstract

Recent developments in human genetic variation research have fueled predictions of an imminent era of personalized medicine. Defined as a shift toward greater integrated and heuristic innovation in healthcare, personalized medicine seeks to create differentiated strategies for the prevention of disease defined at the molecular level [1] . Recent developments in gene sequencing technologies have focused efforts toward improving efficacy and efficiency in the drug development process. Emerging from the discipline of pharmacogenetics, pharmacogenomics – the study of gene-to-gene interactions through the use of high-throughput technologies – has gained attention as the field most able to deliver on the promises of genomic medicine [2] . The distinction between pharmacogenetics and pharmacogenomics is not clear; while some have argued that differences of scale and focus distinguish the fields, this article uses the term, ‘pharmacogenomics’, to mean the broad scope of research on inherited variation in drug response. Through differential diagnosis, drug response is being linked to molecular subgroups that may allow for the development of ‘tailored’ medications [3] . However, several challenges confront these potential benefits. Critical to the success of pharmacogenomics and personalized drug therapies are the creation of large databases containing human genotypic and phenotypic information, the adoption of pharmacogenomic testing as a standard of medical care, and greater regulatory guidance on balancing commercial and public health priorities. In anticipation of these healthcare trajectories, serious engagement with the ethical and social implications of pharmacogenomics is needed. This article reviews several of these issues and highlights concerns that must be addressed in anticipation of personalized drug development.