Personalized medicine: renewing the social science research agenda.

Abstract

Since the launch of the Human Genome Project, there has been a significant investment in research to examine the ethical, legal and social issues (ELSI) of what some have called the molecularization of the life sciences and clinical practice [1]. Myriad issues have been addressed in these ELSI research programs across the world, involving sociologists, economists, anthropologists, political scientists and others. Studies have focused on: gene patents, genetic discrimination, geneticization, the governance of biobanks, the familial implications of genetic testing and the regulation of genetic testing, to name just some of the themes. There is not the space here for a thorough review of the literature on even a single one of these topics, and that is not our intent. Instead, the purpose of this commentary is to highlight some of the key areas where we feel there are still gaps in our knowledge, where new questions should be asked or where novel approaches might bring a fresh perspective. To draw an analogy with genomic science: just as researchers have followed the initial findings from the genome-wide association studies of recent years by pursuing the missing heritability of common disease so the ELSI research program has left social scientists with their own mysterious dark matter to explore. There is widespread expectation that the genomic revolution in biomedical science will usher in an age of personalized (or stratified) medicine. A new molecular taxonomy of disease will emerge in tandem with new diagnostic tools for risk stratification, early detection of disease, prognosis and personalized therapies. The rapid decline in the cost of sequencing, coupled with the postgenomic shift towards proteomics and metabolomics, has increased the pace and volume of biomarker discovery. However, the