In this section we provide some short notes on some specific applications

For most drugs there is a clear dose-effect relationship and dosing involves a trade-off between beneficial and adverse effects.

Our bodies produce metabolic enzymes that detoxify and process most drugs. These enzymes may be impaired by genetic mutations or interactions with other drugs or foods, and lead to serious clinical effects.

This factsheet describes how genomic insights have lead to improved treatments for many types of cancer.

This factsheet describes the principles, progress, and challenges of gene therapy.

Genomic science is helping to improve prevention and treatment of infectious diseases. This factsheet describes developments which may contribute to rapid identification of microbial resistance and formulation of effective vaccines.

Pharmacogenetic testing can be used to guide decision-making about drug therapy. In many clinical situations, “traditional” testing, such as monitoring of blood levels, may be more appropriate. Like any test, it is important to demonstrate evidence of the utility and cost-effectiveness of a pharmacogenetic test before. This factsheet illustrates some of the issues involved in assessing clinical utility.

Stem cells and genomic information hold much promise for regenerating lost or destroyed cells or tissues, such as in neurological disease or heart disease. This factsheet introduces approaches used to induce pluripotent stem cells from somatic cells.

New genetic technologies can assist diagnosis, for example by identifying the subtype of a cancer; and prognosis, for example in monitoring the progression of Alzheimer’s disease. This factsheet introduces the technology and application of gene signatures to guide practice.

One adverse outcome of our increasing love affair with recreational sun-exposure is an increasing incidence of a particular type of skin cancer (melanoma), particularly among fair-skinned populations and sun-bed users. Unfortunately, when the melanoma spreads this leads to a poor prognosis. The response rate with current licensed therapies is poor, with no more than one in five patients responding and little impact on overall survival.

A series of 12 factsheets illustrating basic concepts and clinical applications of pharmacogenetics and genomic science. Includes information on drug dosage; gene therapy, gene expression signatures and pharmacogenetic testing.

For most drugs there is a clear dose-effect relationship and dosing involves a trade-off between beneficial and adverse effects.

Use this factsheet to understand how the functional and clinical significance of a gene variant within a metabolic pathway is reported.

For most drugs there is a clear dose-effect relationship and dosing involves a trade-off between beneficial and adverse effects.

Use this factsheet to understand the definitions of sensitivity, specificity, positive predictive value and negative predictive value when evaluating screening tests.

For most drugs there is a clear dose-effect relationship and dosing involves a trade-off between beneficial and adverse effects.

Use this factsheet to understand the key factors involved in assessing pharmacogenetic studies.

This report describes the findings of a meeting held with pharmacy stakeholders in collaboration with the Royal Pharmaceutical Society of Great Britain.

A main recommendation was that the Centre should be involved in engaging pharmacy stakeholders to develop a genetics education framework for pharmacists in pre-registration education, continuing professional development and specialist training. The Centre is working with pharmacy groups to provide educators with support and clinically relevant teaching resources to be freely available from the Centre.

Use this report to understand the role that pharmacists feel they could play in offering a pharmacogenetics service to the public and to highlight the educational needs of pharmacists of this topic.

In this article for "The Pharmacist" journal, Alain Li-Wan-Po and Peter Farndon introduce the science of pharmacogenetics and its implications for pharmacy practice, illustrated with examples from oncology and other areas.

"The technology for reliable pharmacogenetic testing is advancing fast, the need for optimising pharmacotherapy is ever present, and the Department of Health is keen to help the development of clinical services by the community pharmacist. Will pharmacists rise to the challenge of providing an appropriate pharmacogenetics advisory service?"

Use this article from 'The Pharmacist' to provide an introduction to the science of pharmacogenetics and its implications for pharmacy practice.