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  • EELS (Ethical Economic Legal and Social) Article
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EELS (Ethical, Economic, Legal & Social) Article

Pharmacogenetics: the ethical context

The Pharmacogenomics Journal volume 1, pages 239–242 (2001)Cite this article

The development of and application of pharmacogenetics in health care promises to move genetic testing into a new era. Through the application of pharmacogenetics, it will soon be possible to characterise variation between DNA of patients to predict their responses to specific medicines. It is widely expected that the availability of predictive medicine response profiles will change the practice and economics of healthcare.1 A move away from the strategy of producing a medicine for general use by genotypically diverse patient populations will increase the number of drugs that need to be designed to target a more segregated patient population. Thus medicines for general use will need to be replaced by subsets of compounds that comprise a major drug class. The consequent introduction of pharmacogenetics into the clinical setting will bring genetic testing into much wider usage. Although there is disagreement about the degree to which the pharmacogenetic approach will become the standard for the development of new medicines and over what time scale, there is growing recognition of the need to anticipate the ethical issues that are likely to be raised. This article focuses on three key aspects: the existing ethical framework for genetic testing with a particular emphasis on consent, whether pharmacogenetic testing is distinctive from other kinds of genetic testing and the ethical issues posed by the genotypic stratification of patients in clinical trials.

Experience of genetic testing has developed over the past decade through the identification of an increasing number of single genes for rare diseases. During this period, genetic testing and screening services have become well established in most developed countries. Prenatal screening, screening of neonates and screening of adults for carrier status and late onset disorders are now available for several genetic diseases. The development of these services has taken place against a background of extensive debate about the ethical issues that they raise. Accumulating experience and debate has led to the formulation of ethical guidelines for genetic testing by several advisory bodies, including national bioethics commissions and similar bodies, international organisations such as the Council of Europe, professional bodies and many others. These guidelines are the starting point for the expansion of genetic testing that pharmacogenetics will bring. Guidance for genetic testing has been based largely on the experience derived from the diagnosis of single gene disorders, including Huntington's disease, cystic fibrosis, phenylketonuria and the thalassaemias. More recently, experience has widened to include testing for certain cancers where the prediction of risk may be less certain as in the case of the inherited forms of breast cancer (BRCA1, BRCA2). Many genes which confer susceptibility to a wide range of complex diseases, will be identified over the next 5–10 years. However, to what extent genetic testing for complex diseases will make it possible to individualise risk figures, is unclear.

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  1. Nuffield Council on Bioethics, London, UK

    S M Thomas

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  1. S M Thomas
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Correspondence to S M Thomas.

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Thomas, S. Pharmacogenetics: the ethical context. Pharmacogenomics J 1, 239–242 (2001). https://doi.org/10.1038/sj.tpj.6500052

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