Information policy for pharmacogenetics

Pharmacogenetics (PGx) is the study of genetically determined variability in drug response. Pharmacogenetic applications or products will involve genetic tests of patients to:

  • help choose the most appropriate drug for each individual
  • select an optimal dose
  • identify those at risk from atypical adverse drug reactions

Recent advances in molecular genetics and the falling costs of genetic testing have invigorated this field. Two recent cancer drugs have been linked to genetic tests of malignant cells (Herceptin and Glivec), to improve targeting of treatment. In the optimistic days of the race to map the human genome, a number of experts argued that pharmacogenetics would revolutionise drug marketing and prescribing. In the light of claims about the future role of pharmacogenetics, this research study explored:

  • the nature of the evidence and knowledge that will be needed to allow the regulatory authorities, clinicians, and patients to decide on the appropriate use of new PGx tests and pharmaceutical agents
  • the policy options for ensuring that such balanced, timely and relevant information is produced and made available, especially to clinicians and patients

Research methods

The research involved a literature review and consultations with European and American experts via semi-structured interviews and focus groups. It included many of the leading experts from key fields, including drug and device regulators, government policy makers, reimbursement and public health agencies, representatives from pharmaceutical and biotechnology companies, clinical researchers, prescribers – in pharmacy, primary and hospital care settings, patient representatives, economists, geneticists, ethicists and bio-informatics specialists.


The report can be downloaded from the PHG Foundation website:

Project funding and team

The Wellcome Trust - Biomedical Ethics Programme provided support for the research study.

Dr David Melzer was the principal investigator. Ann Raven MSc and Denise Jillions MA undertook most of the research fieldwork.

The project group supervising the work included:

  • Dr Ron Zimmern of the Cambridge Genetics Knowledge Park
  • Professor Don Detmer of the Judge Institute of Management, Cambridge
  • Professor Tom Ling of Anglia Polytechnic University