The notion that genetic factors can be responsible for altered drug response in some patients evolved in the late 1950s. The term ‘pharmacogenetics’ was coined in 1959 to describe a new scientific discipline that dealt with inherited differences in the response to drugs. It has been suggested that selection of drug therapy based on the genetic make-up of a
patient may result in not only an improved therapeutic response but also a clinically important reduction in adverse drug reactions.

Increasingly, sponsors of new drugs are integrating pharmacogenetics in their drug development programmes. The outcome of this integration will present challenges to the traditional paradigms for drug development, regulatory evaluation of safety and efficacy and clinical use of drugs. Ethical, legal and pharmacoeconomic issues are also integral to the debate.

Pharmacogenetics is still an evolving discipline and a very active area of research. It promises to revolutionise therapeutics by ‘personalising medicine’. The term ‘personalised medicine’ is potentially misleading and may be interpreted to mean that drugs are developed for individual patients. A term that we prefer to use is ‘individually targeted therapy’. In principle, genotypebased individually targeted prescribing ought to be more effective at improving response rates and decreasing the burdens of adverse drug reactions.

This Report, an outcome of inspiring discussions among a number of senior scientists from drug regulatory authorities, pharmaceutical companies and academia, addresses many of these issues in detail. It reflects their views and visions today and expectations for the future. The reader will find that there is duplication of information in various chapters. This is deliberate. The CIOMS Working Group on Pharmacogenetics considered that each chapter should be self-standing with its own references.