Pharmacogenetics, Controversies and New Forms of Service Delivery in Autoimmune Diseases, Acute Lymphoblastic Leukaemia and Non-Small-Cell Lung Cancer.

  • Graciela Sainz De La Fuente

Student thesis: Phd


Pharmacogenetics (PGx) and personalised medicine are new disciplines that, gathering the existing knowledge about the genetic and phenotypic factors that underpin drug response, aim to deliver more targeted therapies that avoid the existing problems of adverse drug reactions or lack of drug efficacy. PGx and personalised medicine imply a shift in the way drugs are prescribed, as they require introducing diagnostic tools and implementing pre-screening mechanisms that assess patients' susceptibility to new or existing drugs. The direct benefit is an improvement in drug safety and/or efficacy. However, neither pharmacogenetics nor personalised medicine, are widely used in clinical practice. Both technologies face a number of controversies that hamper their widespread use in clinical practice. This thesis investigates the scientific; technological; social; economic; regulatory and ethical implications of PGx and personalised medicine, to understand the enablers and barriers that drive the process of technology diffusion in three conditions: autoimmune diseases, acute lymphoblastic leukaemia and non-small cell lung cancer.The thesis uses concepts of the sociology of science and a qualitative approach, to explore the arguments for and against the use of the technology by different actors (pharmaceutical and biotechnology companies, researchers, clinicians, regulators and patient organisations). The core of this analysis lies in the understanding of how, diagnostic testing (TPMT testing in the case of autoimmune diseases, acute lymphoblastic leukaemia, and EGFR testing in the case of non-small-cell lung cancer) may affect the existing drug development and service delivery mechanisms, with a particular focus on the user-producer interactions and feedback mechanisms that underpin diffusion of medical innovations and technological change in medicine.The thesis concludes by identifying gaps in knowledge and common issues among TPMT and EGFR testing, which might be used, in the future, to inform policy on how to improve PGx service delivery through a public Health System such as the NHS.
Date of Award31 Dec 2010
Original languageEnglish
Awarding Institution
  • The University of Manchester
SupervisorMichael Keenan (Supervisor) & Denis Loveridge (Supervisor)


  • Drug-test co-developmnent
  • Health Policy and Practice
  • Medical Innovation, Diffusion and Adoption
  • Lung Cancer
  • Pharmacogenetics
  • Diagnostic Testing (TPMT and EGFR testing)
  • Personalised Medicine
  • Autoimmune Diseases

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