Course: Using Personalized Medicine and Pharmacogenetics

This 16 minute tutorial about genetic variation will introduce you to some useful curated databases of information about Mendelian disease; it will also consider common, complex disease phenotypes and the …

A striking problem for clinicians and scientists in the near-future may be engaging in discussions about incidental findings. Analysing the sequence of whole human genomes, either in clinical practice or …

The area of genetic medicine that is certain to expand rapidly over the next decade is pharmacogenetics which is the use of genetic information to improve the efficacy, and/or reduce …

Please read the scenario and then watch the video. This clinical case introduces genetic disease and non-invasive preimplantation test (NIPT). The clinical scenario Sonia Jamieson is 34 years old and …

Common genetic variants are considered to be potential screening tools that could be used in disease prevention and tailored treatment regimes, and spin-off initiatives from the Human Genome Mapping Project …

Regional Genomic Centres in the UK National Health Service have started an ambitious project to sequence 100,000 human genomes. The 100K Genomes project has an educational division that produces information, …

We filmed the discussion between Dr Barbara Jennings and Dr James Hadfield (who leads the Genomics Core Sequencing Facilities and the Cancer Research UK Cambridge Institute) about the impact of …

In this 12 minute tutorial, Barbara Jennings describes the human genome, the human genome project and how our understanding of genetic variation can be applied to pharmacogenetics. You can download …

The rapid progress in the field of human genomics described in this course has been driven by the emergence of key technologies exploiting the chemistry of DNA synthesis. For example, …

Lead educator Barbara Jennings welcomes you to the course. The Human Genome has been the focus of intensive research initiatives since genome mapping began in earnest in 1990. In this …

In the US and in Europe, research centres have been established to facilitate the routine use of pharmacogenetics tests in clinical care. See the research programmes, and publications via these …

During the construction of this course we had a wide-ranging discussion about the use of genetics in medicine by today’s clinicians. We also debated the potential utility of genomic medicine …

Dihydydropyrimidine dehydrogenase (DPD) is a key metabolic enzyme that affects the pharmacokinetics of and toxicity of fluoropyrimidines including 5-fluorouracil (5-FU) and its oral prodrugs (e.g. capecitabine). Over 80% of 5-FU …

Even with the use of a genotypic tests that consider multiple DPYD variants simultaneously, some argue that measures of clinical validity for these biomarkers are too low to justify routine …

We will consider the evidence behind clinical practice guidelines described on the PharmGKB pharmacogenomics knowledge resource website Cancer chemotherapy has the potential for prolonging lives, and regimes that include the …