Since the inception of the Human Genome Project, human genetics has frequently been conducted through big science projects, combining academic, state and industrial methods, interests and resources. The legitimacy of such projects has been linked to national prestige and images of the nation, the purity of scientific endeavour, the entrepreneurial spirit, medical progress and the public health. A key complication in these discourses is that large-scale genetic research has yet to show major results when considered in terms of the objectives used to legitimate investment and social support for these projects. The main area showing promise at present is the developing field of pharmacogenetics, which is now attracting major industry and government investment. Sociological, ethical and philosophical study of human genetic sample-based research and pharmacogenetics has developed in parallel with inquiry in the biological and biomedical sciences. This paper introduces a symposium on the ethical and social aspects of this field of biomedical research.

This review provides an overview of the European legal framework relating to the protection of sensitive data obtained from pharmacogenetic tests. The primary objective of pharmacogenetic testing is neither diagnosis nor prediction of disease, but determining likely responses to medicines based on specific genetic factors. Nevertheless, pharmacogenetic testing can lead to the disclosure of sensitive information and, as a consequence, it is argued that consent is a prerequisite. It is further argued that appropriate protection for privacy and confidentiality is crucial, but that disclosure may be justified in certain exceptional circumstances. This article describes the various European legislative instruments that provide useful guidance on the types of circumstances when disclosure may be justified.