OBJECTIVES: The Human Genome Project has the potential to revolutionize every aspect of pharmaceutical science and the pharmaceutical industry. Pharmacogenomics is a new discipline with the goal of understanding the genetic basis for how individuals differ in their response to drugs. However, there has not been a systematic review of what is known about the societal implications of these developments. Our objective is to: (1) develop a framework for reviewing the clinical, economic, and policy implications of pharmacogenomics, and (2) systematically review the literature to assess what is currently known about these issues. METHODS: Our analysis builds on our previous systematic review of the impact of pharmacogenomics on adverse drug reactions. We used systematic literature review and data gathering to develop the framework and to assess the literature. RESULTS: We developed a framework that examines the implications of using pharmacogenomics from three views: (1) Perspective (basic science, clinical, or policy science), (2) Approach (drug development, drug substitution, or genotyping), and (3) Stakeholders (patients, providers, industry, payers, government, or society). We found that there are many existing gaps in the literature examining these issues. Much of the literature has focused on the use of genetic information to predict disease risk, such as genetic predisposition for breast cancer, but these studies often do not address the relevant issues for pharmacogenomics. CONCLUSIONS: Only a few studies have begun to address the economic impact of introducing genotyping as a guide for individual therapy and the implications for health care provision and financing. It will thus be critical to conduct cost-effectiveness analyses and other evaluations of the clinical, economic, and policy impact of pharmacogenomics.