John’s Story

Greater Manchester NHS Genomic Medicine Centre

John was suffering from severe chest pain, which was diagnosed as an aortic dissection. Both John’s father and grandfather died as a result of  an aortic dissection and John is worried that his two sons may have inherited the condition. His motivation for joining the 100,000 Genomes Project is to identify the faulty gene within his own family and to help others who may be suffering from the same problem.


If diagnosis is possible then it would put my wife and and my mind at rest in that something could possibly be done

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.