Ethical and Social Issues in Pharmacogenomics Testing

S.   J.H.   Vijverberg; T.      Pieters; M.   C.   Cornel

Abstract

In genomics research, pathways that lead to disease and the role of drugs in these pathways are being unravelled at a high rate. In this paper ethical and social challenges related to pharmacogenomics research are discussed as well as clinical applications. In research, ethical thinking evolves due to the fast pace of research. Genome-wide association studies trying to identify genes that contribute a small risk to common diseases can only be performed on an international scale. Meanwhile, it is becoming more and more clear that genomic information is hard to hide. Thus the traditional promise in research that privacy will be protected appears to be less realistic. Nowadays, adequate information (veracity) and protection against potential risks of discrimination based on predictive medical information is required. A new balance needs to be found. In the clinic, different ethical and social challenges become apparent. The promise to improve diagnosis, treatment and prevention is genuine, but many potentially useful applications do not reach the bedside. There is a need for both translation and for assessment of evidence if “do good and do not harm” is to be taken seriously. In addition, sustainable use of pharmacogenetic knowledge holds promises for developed and developing countries but these promises will only materialize if evidence is built, translated into guidelines, incorporated into education, implemented in pharmacy databases, and evaluated. While translational research in health care progresses slowly, direct-to-consumer testing is being implemented rapidly. International validated quality criteria should apply both to health care and to this commercial field.

Keywords: Pharmacogenomics, ethics, privacy, veracity, informed consent, anti-discrimination legislation, translation research, implementation