Molecular Genetics – Introducing Pharmacogenetics into Clinical Practice

Project Lead – Dr Anne Goodeve 

Pharmacogenetics (PGx) is the study of the genetic variations that affect response to medicines both in terms of efficacy and side effects. The use of PGx in clinical practice has the potential to increase the efficacy of treatments, minimize side effects and improve cost-efficiency. A general problem appears to be that knowing of an apparently medically significant genetic polymorphism for which testing is possible does not necessarily mean that clinicians start to use that knowledge to the benefit of their patients. The aim of this study is therefore to identify the best strategy for introducing PGx into clinical practice and make the most of its use.

The implementation of PGx in routine clinical practice presents significant challenges. A main obstacle appears to be the lack of knowledge of the influence of genetic background on treatment response and of the availability of PGx testing by clinicians and the public. Education and training of both of these groups of individuals and support of the pharmaceutical industry could result in a more rapid implementation, as in the case HER2 testing and breast cancer treatment.

Implementation of PGx testing would have beneficial effects for both patients and the NHS. The main benefits for patients will be a greater chance of receiving the most effective treatment and a reduction in potential adverse reactions. The NHS would see a more rationale use of its limited resources and make large savings by reducing prescription of treatments lacking therapeutic efficacy and the number of hospitalizations and deaths resulting from serious adverse reactions.

The primary objective of this service evaluation is to identify the best strategy for the introduction of PGx testing into clinical practice. Participating clinicians in South Yorkshire will be asked to complete a questionnaire to assess their previous knowledge and use of PGx in their area of care. 

This will be followed by an education and awareness raising campaign (approximately one year disseminating literature, information and seminars etc). At the end of this programme clinicians will be asked to complete an end of the study questionnaire to assess changes in awareness, rate of uptake and levels of satisfaction of the service provided by SDGS and propose changes in practice. 

Data collected in the form of questionnaires at the beginning of the study (baseline point) and the end of the study (follow-up point) will then be evaluated.

For more information, please click the following link: 
Sheffield Genetic Diagnostic Services