Introduction to Genomics and Genomic Technologies
This is a Power Point presentation designed by Dr Katie Snape, Joint Lead Consultant for Cancer Genetics at the South West Thames Centre for Genomics and Honorary Senior Lecturer at St Georges University of London.
Here you will find an overview of genomic data, how it is used and analysed, and applications for healthcare. Dr Snape discusses the clinical impact of genomics including on rare and common diseases, gene editing/gene therapy, infectious disease, fetal diagnostics and pharmacogenomics.
The new genomic medicine service and implications for patients
This is an article in the journal Clinical Medicine by Drs Katie Snape, Sarah Wedderbrun and Julian Barwell. In the paper, they describe the implementation of a national Genomic Medicine Service (GMS) in the UK. Building upon the experience and infrastructure from the 100 000 Genomes Project, the GMS includes the creation of 7 Genomic Laboratory Hubs (including South East Genomic Laboratory Hub) and a national Genomic Test Directory that outlines eligiblity for genomic tests. The GMS will allow greater access for patients to genomics tests and also equity of access across the country.