Cases from the 100,000 Genomes Project

100,000 Genome Project Cancer Programme Teaching Cases

This is a Power Point Presentation created by Dr Katie Snape, Joint Lead Consultant for Cancer Genetics at the South West Thames Centre for Genomics and Honorary Senior Lecturer at St George’s University of London and Dr Nirupa Murugaesu, Consultant Oncologist at St George’s University Hospitals NHS Foundation Trust and Joint Cancer Lead for the South East Genomic Laboratory Hub. In this presentation, three cases from the 100,000 Genomes Project are presented. The tumour and germline genomic sequencing results are reviewed, explaining how mutational signatures and driver mutations in tumours can be used to guide treatment or consider the appropriateness of clinical trials.

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.