Introduction to Genomics

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 London South 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.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.